Publikationen des Instituts für Humangenetik

isTab: true
Zurück
  • 2017
  • 2016
  • 2015
  • 2014
  • 2013
  • 2012
  • 2011
  • 2010
  • 2009
  • 2008
  • 2007
  • 2006
Vor

The Natural History of Canavan Disease: Description of 23 New Cases and Comparison with Literature
Bohnenpoll J, Eichler F, Schoen G, Hischke S, Denecke J, Hempel M, Kohlschütter A, Bley A
NEUROPEDIATRICS. 2017;48(S 01):26.

Lessons learned from additional research analyses of unsolved clinical exome cases
Eldomery M, Coban-Akdemir Z, Harel T, Rosenfeld J, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani S, Schaaf C, Wangler M, Bacino C, Lewis R, Potocki L, Graham B, Belmont J, Scaglia F, Orange J, Jhangiani S, Chiang T, Doddapaneni H, Hu J, Muzny D, Xia F, Beaudet A, Boerwinkle E, Eng C, Plon S, Sutton V, Gibbs R, Posey J, Yang Y, Lupski J
Genome medicine. 2017;9(1):26.

Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS Mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics
Gripp K, Kolbe V, Brandenstein L, Rosenberger G
CLIN GENET. 2017.

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism
Harms F, Girisha K, Hardigan A, Kortüm F, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird L, Ceulemans S, Bebin M, Bowling K, Hiatt S, Lose E, Primiano M, Chung W, Juusola J, Akdemir Z, Bainbridge M, Charng W, Drummond-Borg M, Eldomery M, El-Hattab A, Saleh M, Bézieau S, Cogné B, Isidor B, Küry S, Lupski J, Myers R, Cooper G, Kutsche K
AM J HUM GENET. 2017;100(1):117-127.

Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies
Hempel M, Casar Tena T, Diehl T, Burczyk M, Strom T, Kubisch C, Philipp M, Lessel D
HUM GENET. 2017;136(3):339-346.

Phenotypes and genotypes in individuals with SMC1A variants
Huisman S, Mulder P, Redeker E, Bader I, Bisgaard A, Brooks A, Cereda A, Cinca C, Clark D, Cormier-Daire V, Deardorff M, Diderich K, Elting M, van Essen A, Patrick D, Gervasini C, Gillessen-Kaesbach G, Girisha K, Hilhorst-Hofstee Y, Hopman S, Horn D, Isrie M, Jansen S, Jespersgaard C, Kaiser F, Kaur M, Kleefstra T, Krantz I, Lakeman P, Landlust A, Lessel D, Michot C, Moss J, Noon S, Oliver C, Parenti I, Pie J, Ramos F, Rieubland C, Russo S, Selicorni A, Tümer Z, Vorstenbosch R, Wenger T, van Balkom I, Piening S, Wierzba J, Hennekam R
AM J MED GENET A. 2017 [Epub ahead of print].

Genetic diagnostics of inherited aortic diseases
Kodolitsch Y, Kutsche K
HERZ. 2017 [Epub ahead of print].

Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype
Kortüm F, Marquardt I, Alawi M, Korenke G, Spranger S, Meinecke P, Kutsche K
PEDIATRICS. 2017;139(1):pii: e20160550.

AUNA2
Lang-Roth R, Fischer-Krall E, Kornblum C, Nürnberg G, Meschede D, Goebel I, Nürnberg P, Beutner D, Kubisch C, Walger M, Volk A
Audiology & neuro-otology. 2017 [Epub ahead of print];22(1):30-40.

Poly-GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD
Lehmer C, Oeckl P, Weishaupt J, Volk A, Diehl-Schmid J, Schroeter M, Lauer M, Kornhuber J, Levin J, Fassbender K, Landwehrmeyer B, Schludi M, Arzberger T, Kremmer E, Flatley A, Feederle R, Steinacker P, Weydt P, Ludolph A, Edbauer D, Otto M
EMBO MOL MED. 2017 [Epub ahead of print].

SHANK proteins limit integrin activation by directly interacting with Rap1 and R-Ras
Lilja J, Zacharchenko T, Georgiadou M, Jacquemet G, Franceschi N, Peuhu E, Hamidi H, Pouwels J, Martens V, Nia F, Beifuss M, Boeckers T, Kreienkamp H, Barsukov I, Ivaska J
NAT CELL BIOL. 2017;19(4):292-305.

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
Oud M, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen M, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale C, Wanders R, Pals S, Ocaka L, James C, Müller I, Lehmberg K, Strom T, Engels H, Williams H, Beales P, Roepman R, Dias P, Brunner H, Cobben J, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies E, de Sousa S, Lessel D, Arts H, Kuijpers T
AM J HUM GENET. 2017;100(2):281-296.

Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern
Podolska A, Kobelt A, Fuchs S, Hackmann K, Rump A, Schröck E, Kutsche K, Di Donato N
AM J MED GENET A. 2017;173(5):1334-1341.

Neurofilament as a blood marker for diagnosis and monitoring of primary progressive aphasias
Steinacker P, Semler E, Anderl-Straub S, Diehl-Schmid J, Schroeter M, Uttner I, Foerstl H, Landwehrmeyer B, von Arnim C, Kassubek J, Oeckl P, Huppertz H, Fassbender K, Fliessbach K, Prudlo J, Roßmeier C, Kornhuber J, Schneider A, Volk A, Lauer M, Danek A, Ludolph A, Otto M
NEUROLOGY. 2017;88(10):961-969.

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.
Yokote K, Chanprasert S, Lee L, Eirich K, Takemoto M, Watanabe A, Koizumi N, Lessel D, Mori T, Hisama F, Ladd P, Angle B, Baris H, Cefle K, Palanduz S, Ozturk S, Chateau A, Deguchi K, Easwar T, Federico A, Fox A, Grebe T, Hay B, Nampoothiri S, Seiter K, Streeten E, Piña-Aguilar R, Poke G, Poot M, Posmyk R, Martin G, Kubisch C, Schindler D, Oshima J
HUM MUTAT. 2017;38(1):7-15.

Shank3 Is Part of a Zinc-Sensitive Signaling System That Regulates Excitatory Synaptic Strength
Arons M, Lee K, Thynne C, Kim S, Schob C, Kindler S, Montgomery J, Garner C
J NEUROSCI. 2016;36(35):9124-34.

Severe learning deficits of IRSp53 mutant mice are caused by altered NMDA receptor dependent signal transduction
Bobsin K, Kreienkamp H
J NEUROCHEM. 2016;136(4):752-763.

NEK1 mutations in familial amyotrophic lateral sclerosis
Brenner D, Müller K, Wieland T, Weydt P, Böhm S, Lulé D, Hübers A, Neuwirth C, Weber M, Borck G, Wahlqvist M, Danzer K, Volk A, Meitinger T, Strom T, Otto M, Kassubek J, Ludolph A, Andersen P, Weishaupt J
BRAIN. 2016;139(Pt 5):e28.

Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia
Daud S, Kakar N, Goebel I, Hashmi A, Yaqub T, Nürnberg G, Nürnberg P, Morris-Rosendahl D, Wasim M, Volk A, Kubisch C, Ahmad J, Borck G
AMYOTROPH LAT SCL FR. 2016;17(3-4):260-265.

The transcriptomes of novel marmoset monkey embryonic stem cell lines reflect distinct genomic features
Debowski K, Drummer C, Lentes J, Cors M, Dressel R, Lingner T, Salinas-Riester G, Fuchs S, Sasaki E, Behr R
SCI REP-UK. 2016;6:29122.

Oligosymptomatic adrenomyeloneuropathy due to a novel mutation in the ABCD1 start codon
Dunkl V, Rau I, Wunderlich G, Fink G, Lehmann H
J NEUROL SCI. 2016;367:81-2.

Involvement of astrocyte and oligodendrocyte gene sets in migraine
Eising E, de Leeuw C, Min J, Anttila V, Verheijen M, Terwindt G, Dichgans M, Freilinger T, Kubisch C, Ferrari M, Smit A, de Vries B, Palotie A, van den Maagdenberg A, Posthuma D
CEPHALALGIA. 2016;36(7):640-7.

Early-onset familial hemiplegic migraine due to a novel SCN1A mutation
Fan C, Wolking S, Lehmann-Horn F, Hedrich U, Freilinger T, Lerche H, Borck G, Kubisch C, Jurkat-Rott K
CEPHALALGIA. 2016 [Epub ahead of print];36(13):1238-1247.

Progranulin as a candidate biomarker for therapeutic trial in patients with ALS and FTLD
Feneberg E, Steinacker P, Volk A, Weishaupt J, Wollmer M, Boxer A, Tumani H, Ludolph A, Otto M
J NEURAL TRANSM. 2016;123(3):289-96.

Sternumaplasie (Sternal Cleft).
Gerling J, Boettcher M, Mietzsch S, Pawlik M, Klaassen I, Hempel M, Reinshagen K, Singer D
Z GEBURTSH NEONATOL . 2016;220:269-270.

A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene
Girisha K, Kortüm F, Shah H, Alawi M, Dalal A, Bhavani G, Kutsche K
EUR J HUM GENET. 2016;24(8):1206-10.

Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients
Girisha K, Bidchol A, Graul-Neumann L, Gupta A, Hehr U, Lessel D, Nader S, Shah H, Wickert J, Kutsche K
BMC MED GENET. 2016;17:27.

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine
Gormley P, Anttila V, Winsvold B, Palta P, Esko T, Pers T, Farh K, Cuenca-Leon E, Muona M, Furlotte N, Kurth T, Ingason A, McMahon G, Ligthart L, Terwindt G, Kallela M, Freilinger T, Ran C, Gordon S, Stam A, Steinberg S, Borck G, Koiranen M, Quaye L, Adams H, Lehtimäki T, Sarin A, Wedenoja J, Hinds D, Buring J, Schürks M, Ridker P, Hrafnsdottir M, Stefansson H, Ring S, Hottenga J, Penninx B, Färkkilä M, Artto V, Kaunisto M, Vepsäläinen S, Malik R, Heath A, Madden P, Martin N, Montgomery G, Kurki M, Kals M, Mägi R, Pärn K, Hämäläinen E, Huang H, Byrnes A, Franke L, Huang J, Stergiakouli E, Lee P, Sandor C, Webber C, Cader Z, Muller-Myhsok B, Schreiber S, Meitinger T, Eriksson J, Salomaa V, Heikkilä K, Loehrer E, Uitterlinden A, Hofman A, van Duijn C, Cherkas L, Pedersen L, Stubhaug A, Nielsen C, Männikkö M, Mihailov E, Milani L, Göbel H, Esserlind A, Christensen A, Hansen T, Werge T, Kaprio J, Aromaa A, Raitakari O, Ikram M, Spector T, Järvelin M, Metspalu A, Kubisch C, Strachan D, Ferrari M, Belin A, Dichgans M, Wessman M, van den Maagdenberg A, Zwart J, Boomsma D, Smith G, Stefansson K, Eriksson N, Daly M, Neale B, Olesen J, Chasman D, Nyholt D, Palotie A
NAT GENET. 2016;48(8):856-66.

Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases
Groth K, Kodolitsch Y, Kutsche K, Gaustadnes M, Thorsen K, Andersen N, Gravholt C
GENET MED. 2016 [Epub ahead of print].

Heterodimerization with the β1 subunit directs the α2 subunit of nitric oxide-sensitive guanylyl cyclase to calcium-insensitive cell-cell contacts in HEK293 cells: Interaction with Lin7a
Hochheiser J, Haase T, Busker M, Sömmer A, Kreienkamp H, Behrends S
BIOCHEM PHARMACOL. 2016;122:23-32.

Exome Sequencing is a Valuable Approach in Critically Ill Patients with Suspected Monogenic Disease: Diagnosis of X-linked Centronuclear Myopathy in Preterm Twins
Johannsen J, Hempel M, Diehl T, Haack T, Denecke J
PEDIATR NEONATOL. 2016 [Epub ahead of print].

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
Kim J, Shinde D, Reijnders M, Hauser N, Belmonte R, Wilson G, Bosch D, Bubulya P, Shashi V, Petrovski S, Stone J, Park E, Veltman J, Sinnema M, Stumpel C, Draaisma J, Nicolai J, Yntema H, Lindstrom K, de Vries B, Jewett T, Santoro S, Vogt J, Bachman K, Seeley A, Krokosky A, Turner C, Rohena L, Hempel M, Kortüm F, Lessel D, Neu A, Strom T, Wieczorek D, Bramswig N, Laccone F, Behunova J, Rehder H, Gordon C, Rio M, Romana S, Tang S, El-Khechen D, Cho M, McWalter K, Douglas G, Baskin B, Begtrup A, Funari T, Schoch K, Stegmann A, Stevens S, Zhang D, Traver D, Yao X, MacArthur D, Brunner H, Mancini G, Myers R, Owen L, Lim S, Stachura D, Vissers L, Ahn E, , , Kubisch C
AM J HUM GENET. 2016;99(3):711-9.

Inositol-1,4,5-trisphosphate-3-kinase-A controls morphology of hippocampal dendritic spines
Köster J, Leggewie B, Blechner C, Brandt N, Fester L, Rune G, Schweizer M, Kindler S, Windhorst S
CELL SIGNAL. 2016;28(1):83-90.

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
Kouz K, Lissewski C, Spranger S, Mitter D, Riess A, Lopez-Gonzalez V, Lüttgen S, Aydin H, von Deimling F, Evers C, Hahn A, Hempel M, Issa U, Kahlert A, Lieb A, Villavicencio-Lorini P, Ballesta-Martinez M, Nampoothiri S, Ovens-Raeder A, Puchmajerová A, Satanovskij R, Seidel H, Unkelbach S, Zabel B, Kutsche K, Zenker M
GENET MED. 2016;18(12):1226-1234.

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy
Kremer L, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Küpper C, Mühlhausen C, Kovacs-Nagy R, Satanovskij R, Graf E, Berutti R, Eckstein G, Durbin R, Sauer S, Hoffmann G, Strom T, Santer R, Meitinger T, Klopstock T, Prokisch H, Haack T
AM J HUM GENET. 2016;98:358-362.

Vererbung und Genetische Tests
Kutsche K
2016. Das Marfan-Syndrom. M (Hrsg.). 1. Aufl. Springer Verlag, 47-56.

The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5
Lessel D, Muhammad T, Casar Tena T, Moepps B, Burkhalter M, Hitz M, Toka O, Rentzsch A, Schubert S, Schalinski A, Bauer U, Kubisch C, Ware S, Philipp M
SCI REP-UK. 2016;6:33231.

Mitral valve prolapse syndrome and MASS phenotype: Stability of aortic dilatation but progression of mitral valve prolapse
Rippe M, De Backer J, Kutsche K, Mosquera L, Schüler H, Rybczynski M, Bernhardt A, Keyser B, Hillebrand M, Mir T, Berger J, Blankenberg S, Koschyk D, von Kodolitsch Y
Int J Cardiol Heart Vasc. 2016;10:39–46.

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients
Sadovnick A, Traboulsee A, Bernales C, Ross J, Forwell A, Yee I, Guillot-Noel L, Fontaine B, Cournu-Rebeix I, Alcina A, Fedetz M, Izquierdo G, Matesanz F, Hilven K, Dubois B, Goris A, Astobiza I, Alloza I, Antigüedad A, Vandenbroeck K, Akkad D, Aktas O, Blaschke P, Buttmann M, Chan A, Epplen J, Gerdes L, Kroner A, Kubisch C, Kümpfel T, Lohse P, Rieckmann P, Zettl U, Zipp F, Bertram L, Lill C, Fernandez O, Urbaneja P, Leyva L, Alvarez-Cermeño J, Arroyo R, Garagorri A, García-Martínez A, Villar L, Urcelay E, Malhotra S, Montalban X, Comabella M, Berger T, Fazekas F, Reindl M, Schmied M, Zimprich A, Vilariño-Güell C
G3-GENES GENOM GENET. 2016;6(7):2073-9.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
Shashi V, Pena L, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin H, Cho M, Stong N, Hickey S, Shuss C, , Freemark M, Bellet J, Keels M, Bonner M, El-Dairi M, Butler M, Kranz P, Stumpel C, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki M, Hoischen A, Need A, Goldstein D, Kortüm F
AM J HUM GENET. 2016;99(4):991-999.

Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome
Shukla A, Hebbar M, Harms F, Kadavigere R, Girisha K, Kutsche K
AM J MED GENET A. 2016;170(11):2998-3003.

Increased copper toxicity in Saccharomyces cerevisiae lacking VPS35, a component of the retromer and monogenic Parkinson disease gene in humans
Sowada N, Stiller B, Kubisch C
BIOCHEM BIOPH RES CO. 2016;476(4):528-33.

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice
Spielmann M, Kakar N, Tayebi N, Leettola C, Nürnberg G, Sowada N, Lupiáñez D, Harabula I, Flöttmann R, Horn D, Chan W, Wittler L, Yilmaz R, Altmüller J, Thiele H, van Bokhoven H, Schwartz C, Nürnberg P, Bowie J, Ahmad J, Kubisch C, Mundlos S, Borck G
GENOME RES. 2016;26(2):183-91.

Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients
Steinacker P, Feneberg E, Weishaupt J, Brettschneider J, Tumani H, Andersen P, von Arnim C, Böhm S, Kassubek J, Kubisch C, Lulé D, Müller H, Muche R, Pinkhardt E, Oeckl P, Rosenbohm A, Anderl-Straub S, Volk A, Weydt P, Ludolph A, Otto M
J NEUROL NEUROSUR PS. 2016;87(1):12-20.

Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis
Vogel M, Velleuer E, Schmidt-Jiménez L, Mayatepek E, Borkhardt A, Alawi M, Kutsche K, Kortüm F
AM J MED GENET A. 2016;170(7):1813-9.

The role of the multidisciplinary health care team in the management of patients with Marfan syndrome
von Kodolitsch Y, Rybczynski M, Vogler M, Mir T, Schüler H, Kutsche K, Rosenberger G, Detter C, Bernhardt A, Larena-Avellaneda A, Kölbel T, Debus E, Schroeder M, Linke S, Fuisting B, Napp B, Kammal A, Püschel K, Bannas P, Hoffmann B, Gessler N, Vahle-Hinz E, Kahl-Nieke B, Thomalla G, Weiler-Normann C, Ohm G, Neumann S, Benninghoven D, Blankenberg S, Pyeritz R
J Multidiscip Healthc. 2016;9:587-614.

Neurofilaments levels as biomarkers in asymptomatic and symptomatic familial ALS
Weydt P, Oeckl P, Huss A, Müller K, Volk A, Kuhle J, Knehr A, Andersen P, Prudlo J, Steinacker P, Weishaupt J, Ludolph A, Otto M
ANN NEUROL. 2016;79(1):152-8.

Response to Calgani et al
Zenker M, Kutsche K
GENET MED. 2016;18(12):1321.

Gene-based pleiotropy across migraine with aura and migraine without aura patient groups
Zhao H, Eising E, de Vries B, Vijfhuizen L, Anttila V, Winsvold B, Kurth T, Stefansson H, Kallela M, Malik R, Stam A, Ikram M, Ligthart L, Freilinger T, Alexander M, Müller-Myhsok B, Schreiber S, Meitinger T, Aromas A, Eriksson J, Boomsma D, van Duijn C, Zwart J, Quaye L, Kubisch C, Dichgans M, Wessman M, Stefansson K, Chasman D, Palotie A, Martin N, Montgomery G, Ferrari M, Terwindt G, van den Maagdenberg A, Nyholt D
CEPHALALGIA. 2016;36(7):648-57.

An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome
Abdollahpour H, Alawi M, Kortüm F, Beckstette M, Seemanova E, Komárek V, Rosenberger G, Kutsche K
EUR J HUM GENET. 2015;23(2):256-259.

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency
Ahting U, Mayr J, Vanlander A, Hardy S, Santra S, Makowski C, Alston C, Zimmermann F, Abela L, Plecko B, Rohrbach M, Spranger S, Seneca S, Rolinski B, Hagendorff A, Hempel M, Sperl W, Meitinger T, Smet J, Taylor R, Van Coster R, Freisinger P, Prokisch H, Haack T
Front Genet. 2015;6:123.

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies
Borck G, Hög F, Dentici M, Tan P, Sowada N, Medeira A, Gueneau L, Thiele H, Kousi M, Lepri F, Wenzeck L, Blumenthal I, Radicioni A, Schwarzenberg T, Mandriani B, Fischetto R, Morris-Rosendahl D, Altmüller J, Reymond A, Nürnberg P, Merla G, Dallapiccola B, Katsanis N, Cramer P, Kubisch C
GENOME RES. 2015;25(2):155-66.

Serotonin reuptake inhibitors and serotonin transporter genotype modulate performance monitoring functions but not their electrophysiological correlates
Fischer A, Endrass T, Reuter M, Kubisch C, Ullsperger M
J NEUROSCI. 2015;35(21):8181-90.

Interactive effects of citalopram and serotonin transporter genotype on neural correlates of response inhibition and attentional orienting
Fischer A, Endrass T, Goebel , Reuter M, Montag C, Kubisch C, Ullsperger M
NEUROIMAGE. 2015;116:59-67.

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
Freischmidt A, Wieland T, Richter B, Ruf W, Schaeffer V, Müller K, Marroquin N, Nordin F, Hübers A, Weydt P, Pinto S, Press R, Millecamps S, Molko N, Bernard E, Desnuelle C, Soriani M, Dorst J, Graf E, Nordström U, Feiler M, Putz S, Boeckers T, Meyer T, Winkler A, Winkelman J, de Carvalho M, Thal D, Otto M, Brännström T, Volk A, Kursula P, Danzer K, Lichtner P, Dikic I, Meitinger T, Ludolph A, Strom T, Andersen P, Weishaupt J
NAT NEUROSCI. 2015;18(5):631-636.

An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences
Gripp K, Sol-Church K, Smpokou P, Graham G, Stevenson D, Hanson H, Viskochil D, Baker L, Russo B, Gardner N, Stabley D, Kolbe V, Rosenberger G
AM J MED GENET A. 2015;167A(9):2085-97.

Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis
Hedergott A, Volk A, Herkenrath P, Thiele H, Fricke J, Altmüller J, Nürnberg P, Kubisch C, Neugebauer A
GRAEF ARCH CLIN EXP. 2015;253(12):2239-2246.

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment
Hempel M, Cremer K, Ockeloen C, Lichtenbelt K, Herkert J, Denecke J, Haack T, Zink A, Becker J, Wohlleber E, Johannsen J, Alhaddad B, Pfundt R, Fuchs S, Wieczorek D, Strom T, van Gassen K, Kleefstra T, Kubisch C, Engels H, Lessel D
AM J HUM GENET. 2015;97(3):493-500.

De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients
Hübers A, Just W, Rosenbohm A, Müller K, Marroquin N, Goebel , Högel J, Thiele H, Altmüller J, Nürnberg P, Weishaupt J, Kubisch C, Ludolph A, Volk A
NEUROBIOL AGING. 2015;36(11):Art. 3117.e1.

Sharpin Controls Osteogenic Differentiation of Mesenchymal Bone Marrow Cells
Jeschke A, Catala-Lehnen P, Sieber S, Bickert T, Schweizer M, Koehne T, Wintges K, Marshall R, Mautner A, Duchstein L, Otto B, Horst A, Amling M, Kreienkamp H, Schinke T
J IMMUNOL. 2015;195(8):3675-84.

STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly
Kakar N, Ahmad J, Morris-Rosendahl D, Altmüller J, Friedrich K, Barbi G, Nürnberg P, Kubisch C, Dobyns W, Borck G
HUM GENET. 2015;134(1):45-51.

The golgi-associated PDZ domain protein PIST/GOPC stabilizes the β1-adrenergic receptor in intracellular compartments after internalization
Koliwer J, Park M, Bauch C, von Zastrow M, Kreienkamp H
J BIOL CHEM. 2015;290(10):6120-9.

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
Kortüm F, Caputo V, Bauer C, Stella L, Ciolfi A, Alawi M, Bocchinfuso G, Flex E, Paolacci S, Dentici M, Grammatico P, Korenke G, Leuzzi V, Mowat D, Nair L, Nguyen T, Thierry P, White S, Dallapiccola B, Pizzuti A, Campeau P, Tartaglia M, Kutsche K
NAT GENET. 2015;47(6):661-7.

αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor
Kortüm F, Harms F, Hennighausen N, Rosenberger G
PLOS ONE. 2015;10(7):e0132737.

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes
Kratz C, Franke L, Peters H, Kohlschmidt N, Kazmierczak B, Finckh U, Bier A, Eichhorn B, Blank C, Kraus C, Kohlhase J, Pauli S, Wildhardt G, Kutsche K, Auber B, Christmann A, Bachmann N, Mitter D, Cremer F, Mayer K, Daumer-Haas C, Nevinny-Stickel-Hinzpeter C, Oeffner F, Schlüter G, Gencik M, Überlacker B, Lissewski C, Schanze I, Greene M, Spix C, Zenker M
BRIT J CANCER. 2015;112(8):1392-7.

Radiosensitization of NSCLC cells by EGFR inhibition is the result of an enhanced p53-dependent G1 arrest
Kriegs M, Gurtner K, Can Y, Brammer I, Rieckmann T, Oertel R, Wysocki M, Dorniok F, Gal A, Grob T, Laban S, Kasten-Pisula U, Petersen C, Baumann M, Krause M, Dikomey E
RADIOTHER ONCOL. 2015;115(1):120-7.

Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome
Kuechler A, Altmüller J, Nürnberg P, Kotthoff S, Kubisch C, Borck G
MOL CELL PROBES. 2015;29(5):330-334.

Suppressor of cytokine signaling 1 gene mutation status as a prognostic biomarker in classical Hodgkin lymphoma
Lennerz J, Hoffmann K, Bubolz A, Lessel D, Welke C, Rüther N, Viardot A, Möller P
ONCOTARGET. 2015;6(30):29097-110.

POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome
Lessel D, Hisama F, Szakszon K, Saha B, Sanjuanelo A, Salbert B, Steele P, Baldwin J, Brown W, Piussan C, Plauchu H, Szilvássy J, Horkay E, Högel J, Martin G, Herr A, Oshima J, Kubisch C
HUM MUTAT. 2015;36(11):1070-9.

Genome-wide significant association with seven novel multiple sclerosis risk loci
Lill C, Luessi F, Alcina A, Sokolova E, Ugidos N, de la Hera B, Guillot-Noël L, Malhotra S, Reinthaler E, Schjeide B, Mescheriakova J, Mashychev A, Wohlers I, Akkad D, Aktas O, Alloza I, Antigüedad A, Arroyo R, Astobiza I, Blaschke P, Boyko A, Buttmann M, Chan A, Dörner T, Epplen J, Favorova O, Fedetz M, Fernández O, García-Martínez A, Gerdes L, Graetz C, Hartung H, Hoffjan S, Izquierdo G, Korobko D, Kroner A, Kubisch C, Kümpfel T, Leyva L, Lohse P, Malkova N, Montalban X, Popova E, Rieckmann P, Rozhdestvenskii A, Schmied C, Smagina I, Tsareva E, Winkelmann A, Zettl U, Binder H, Cournu-Rebeix I, Hintzen R, Zimprich A, Comabella M, Fontaine B, Urcelay E, Vandenbroeck K, Filipenko M, Matesanz F, Zipp F, Bertram L
J MED GENET. 2015;52(12):848-855.

Shared genetic basis for migraine and ischemic stroke: A genome-wide analysis of common variants
Malik R, Freilinger T, Winsvold B, Anttila V, Vander Heiden J, Traylor M, de Vries B, Holliday E, Terwindt G, Sturm J, Bis J, Hopewell J, Ferrari M, Rannikmae K, Wessman M, Kallela M, Kubisch C, Fornage M, Meschia J, Lehtimäki T, Sudlow C, Clarke R, Chasman D, Mitchell B, Maguire J, Kaprio J, Farrall M, Raitakari O, Kurth T, Ikram M, Reiner A, Longstreth W, Rothwell P, Strachan D, Sharma P, Seshadri S, Quaye L, Cherkas L, Schürks M, Rosand J, Ligthart L, Boncoraglio G, Davey Smith G, van Duijn C, Stefansson K, Worrall B, Nyholt D, Markus H, van den Maagdenberg A, Cotsapas C, Zwart J, Palotie A, Dichgans M
NEUROLOGY. 2015;84(21):2132-45.

Phenotypic and molecular insights into CASK-related disorders in males
Moog U, Bierhals T, Brand K, Bautsch J, Biskup S, Brune T, Denecke J, de Die-Smulders C, Evers C, Hempel M, Henneke M, Yntema H, Menten B, Pietz J, Pfundt R, Schmidtke J, Steinemann D, Stumpel C, Van Maldergem L, Kutsche K
ORPHANET J RARE DIS. 2015;10(1):44.

Concordance of genetic risk across migraine subgroups: Impact on current and future genetic association studies
Nyholt D, Anttila V, Winsvold B, Kurth T, Stefansson H, Kallela M, Malik R, Vries B, Terwindt G, Ikram M, Stam A, Ligthart L, Freilinger T, Alexander M, Muller-Myhsok B, Schreiber S, Meitinger T, Aromaa A, Eriksson J, Kaprio J, Boomsma D, Duijn C, Raitakari O, Järvelin M, Zwart J, Quaye L, Strachan D, Kubisch C, Ferrari M, van den Maagdenberg A, Dichgans M, Wessman M, Smith G, Stefansson K, Chasman D, Palotie A
CEPHALALGIA. 2015;35(6):489-99.

Ocular signs correlate well with disease severity and genotype in Fabry disease
Pitz S, Kalkum G, Arash L, Karabul N, Sodi A, Larroque S, Beck M, Gal A
PLOS ONE. 2015;10(3):Art. e0120814.

A post GWAS association study of SNPs associated with cleft lip with or without cleft palate in submucous cleft palate
Reiter R, Brosch S, Goebel , Ludwig K, Pickhard A, Högel J, Schlömer G, Mangold E, Kubisch C, Borck G
AM J MED GENET A. 2015;167(3):670-3.

EGFRvIII does not affect radiosensitivity with or without gefitinib treatment in glioblastoma cells
Struve N, Riedel M, Schulte A, Rieckmann T, Grob T, Gal A, Rothkamm K, Lamszus K, Petersen C, Dikomey E, Kriegs M
ONCOTARGET. 2015;6(32):33867-77.

OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)
Thoenes M, Zimmermann U, Ebermann I, Ptok M, Lewis M, Thiele H, Morlot S, Hess M, Gal A, Eisenberger T, Bergmann C, Nürnberg G, Nürnberg P, Steel K, Knipper M, Bolz H
ORPHANET J RARE DIS. 2015;10:15.

Next-generation sequencing in X-linked intellectual disability
Tzschach A, Grasshoff U, Beck-Woedl S, Dufke C, Bauer C, Kehrer M, Evers C, Moog U, Oehl-Jaschkowitz B, Di Donato N, Maiwald R, Jung C, Kuechler A, Schulz S, Meinecke P, Spranger S, Kohlhase J, Seidel J, Reif S, Rieger M, Riess A, Sturm M, Bickmann J, Schroeder C, Dufke A, Riess O, Bauer P
EUR J HUM GENET. 2015;23(11):1513-8.

Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome
van Rahden V, Fernandez-Vizarra E, Alawi M, Brand K, Fellmann F, Horn D, Zeviani M, Kutsche K
AM J HUM GENET. 2015;96(4):640-50.

Structure-function-behavior relationship in estrogen-induced synaptic plasticity
Vierk R, Bayer J, Freitag S, Muhia M, Kutsche K, Wolbers T, Kneussel M, Sommer-Blöchl T, Rune G
HORM BEHAV. 2015;74:139-48.

Interpretation of sequence variants of the FBN1 gene analog or digital? A commentary on decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants
von Kodolitsch Y, Kutsche K
J HUM GENET . 2015;60(9):465-6.

A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing
Yilmaz R, Beleza-Meireles A, Price S, Oliveira R, Kubisch C, Clayton-Smith J, Szakszon K, Borck G
AM J MED GENET A. 2015;167(12):3006-3010.

A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother
Aulitzky A, Friedrich K, Gläser D, Gastl R, Kubisch C, Ludolph A, Volk A
J NEUROL SCI. 2014;347(1-2):352-5.

Subcellular sorting of the G-protein coupled mouse somatostatin receptor 5 by a network of PDZ-domain containing proteins
Bauch C, Koliwer J, Buck F, Hönck H, Kreienkamp H
PLOS ONE. 2014;9(2):e88529.

RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFR
Brand K, Kentsch H, Glashoff C, Rosenberger G
HUM MUTAT. 2014;35(11):1372-81.

Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis
Cobos P, Steglich C, Santer R, Lukacs Z, Gal A
JIMD reports. 2014.

Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome
Danda S, van Rahden V, John D, Paul P, Raju R, Koshy S, Kutsche K
Mol Syndromol. 2014;5(5):251-6.

Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome
de Almeida H, Rossi G, de Abreu L, Bergamaschi C, da Silva A, Kutsche K
AN BRAS DERMATOL. 2014;89(1):180-1.

A non-canonical initiation site is required for efficient translation of the dendritically localized Shank1 mRNA
Falley K, Ölschläger-Schütt J, Buck F, Richter D, Sala C, Bockmann J, Kindler S, Kreienkamp H
PLOS ONE. 2014;9(2):e88518.

A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis
Girisha K, Abdollahpour H, Shah H, Bhavani G, Graham J, Boggula V, Phadke S, Kutsche K
AM J MED GENET A. 2014;164A(4):1035-40.

Total serum transforming growth factor-β1 is elevated in the entire spectrum of genetic aortic syndromes
Hillebrand M, Millot N, Sheikhzadeh S, Rybczynski M, Gerth S, Kölbel T, Keyser B, Kutsche K, Robinson P, Berger J, Mir T, Zeller T, Blankenberg S, Kodolitsch Y, Goldmann B
CLIN CARDIOL. 2014;37(11):672-9.

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3
Kornak U, Mademan I, Schinke M, Voigt M, Krawitz P, Hecht J, Barvencik F, Schinke T, Gießelmann S, Beil F, Pou-Serradell A, Vílchez J, Beetz C, Deconinck T, Timmerman V, Kaether C, De Jonghe P, Hübner C, Gal A, Amling M, Mundlos S, Baets J, Kurth I
BRAIN. 2014;137(3):683-92.

Exom-Sequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome: Erfahrungen aus Hamburg
Kortüm F, Abdollahpour H, Alawi M, Korenke G, Seemanova E, Tinschert S, Zenker M, Rosenberger G, Kutsche K
Med Genet. 2014;26:246-254.

Right ventricular stroke volume variation: a tool to assess right ventricular volume responsiveness
Kubitz J, Richter H, Petersen C, Goetz A, Reuter D
MINERVA ANESTESIOL. 2014;80(9):992-995.

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features
Lessel D, Vaz B, Halder S, Lockhart P, Marinovic-Terzic I, Lopez-Mosqueda J, Philipp M, Sim J, Smith K, Oehler J, Cabrera E, Freire R, Pope K, Nahid A, Norris F, Leventer R, Delatycki M, Barbi G, von Ameln S, Högel J, Degoricija M, Fertig R, Burkhalter M, Hofmann K, Thiele H, Altmüller J, Nürnberg G, Nürnberg P, Bahlo M, Martin G, Aalfs C, Oshima J, Terzic J, Amor D, Dikic I, Ramadan K, Kubisch C
NAT GENET. 2014;46(11):1239-44.

Assessment of microRNA-related SNP effects in the 3' untranslated region of the IL22RA2 risk locus in multiple sclerosis
Lill C, Schilling M, Ansaloni S, Schröder J, Jaedicke M, Luessi F, Schjeide B, Mashychev A, Graetz C, Akkad D, Gerdes L, Kroner A, Blaschke P, Hoffjan S, Winkelmann A, Dörner T, Rieckmann P, Steinhagen-Thiessen E, Lindenberger U, Chan A, Hartung H, Aktas O, Lohse P, Buttmann M, Kümpfel T, Kubisch C, Zettl U, Epplen J, Zipp F, Bertram L
NEUROGENETICS. 2014;15(2):129-34.

Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa
Linder B, Hirmer A, Gal A, Rüther K, Bolz H, Winkler C, Laggerbauer B, Fischer U
PLOS ONE. 2014;9(11):e111754.

Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases
Méneret A, Depienne C, Riant F, Trouillard O, Bouteiller D, Cincotta M, Bitoun P, Wickert J, Lagroua I, Westenberger A, Borgheresi A, Doummar D, Romano M, Rossi S, Defebvre L, De Meirleir L, Espay A, Fiori S, Klebe S, Quélin C, Rudnik-Schöneborn S, Plessis G, Dale R, Sklower Brooks S, Dziezyc K, Pollak P, Golmard J, Vidailhet M, Brice A, Roze E
NEUROLOGY. 2014;82(22):1999-2002.

Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease
Müller K, Andersen P, Hübers A, Marroquin N, Volk A, Danzer K, Meitinger T, Ludolph A, Strom T, Weishaupt J
BRAIN. 2014;137(Pt 12):e309.

KIT mutations in primary mediastinal B-cell lymphoma
Nagel P, Stenzinger A, Feld F, Herrmann M, Brüderlein S, Barth T, Marienfeld R, Endris V, Weichert W, Debatin K, Westhoff M, Lessel D, Möller P, Lennerz J
BLOOD CANCER J. 2014;4(8):e241.

Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome
Schanze D, Neubauer D, Cormier-Daire V, Delrue M, Dieux-Coeslier A, Hasegawa T, Holmberg E, Koenig R, Krueger G, Schanze I, Seemanova E, Shaw A, Vogt J, Volleth M, Reis A, Meinecke P, Hennekam R, Zenker M
HUM MUTAT. 2014;35(9):1092-100.

Branchio-otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8
Schmidt T, Bierhals T, Kortüm F, Bartels I, Liehr T, Burfeind P, Shoukier M, Frank V, Bergmann C, Kutsche K
CYTOGENET GENOME RES. 2014;142(1):1-6.

Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome
Seifert W, Meinecke P, Krüger G, Rossier E, Heinritz W, Wüsthof A, Horn D
BMC MED GENET. 2014;15:127.

Dural ectasia in Loeys-Dietz Syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation
Sheikhzadeh S, Brockstädt L, Habermann C, Sondermann C, Bannas P, Mir T, Staebler A, Seidel H, Keyser B, Arslan-Kirchner M, Kutsche K, Berger J, Blankenberg S, Kodolitsch Y
CLIN GENET. 2014;86(6):545-551.

Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation
Sheikhzadeh S, Sondermann C, Rybczynski M, Habermann C, Brockstädt L, Keyser B, Kaemmerer H, Mir T, Staebler A, Robinson P, Kutsche K, Berger J, Blankenberg S, Kodolitsch Y
CLIN GENET. 2014;86(3):238-245.

Carpal tunnel syndrome is associated with high fibrinogen and fibrinogen deposits
Utrobičić I, Novak I, Marinović-Terzić I, Matić K, Lessel D, Salamunić I, Babić M, Kunac N, Mešin A, Kubisch C, Maček B, Terzić J
NEUROSURGERY. 2014;75(3):276-85.

Clinical spectrum of females with HCCS Mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome
van Rahden V, Rau I, Fuchs S, Kosyna F, de Almeida H, Fryssira H, Isidor B, Jauch A, Joubert M, Lachmeijer A, Zweier C, Moog U, Kutsche K
ORPHANET J RARE DIS. 2014;9(1):53.

Genome-wide meta-analysis identifies new susceptibility loci for migraine
Anttila V, Winsvold B, Gormley P, Kurth T, Bettella F, McMahon G, Kallela M, Malik R, de Vries B, Terwindt G, Medland S, Todt U, McArdle W, Quaye L, Koiranen M, Ikram M, Lehtimäki T, Stam A, Ligthart L, Wedenoja J, Dunham I, Neale B, Palta P, Hamalainen E, Schürks M, Rose L, Buring J, Ridker P, Steinberg S, Stefansson H, Jakobsson F, Lawlor D, Evans D, Ring S, Färkkilä M, Artto V, Kaunisto M, Freilinger T, Schoenen J, Frants R, Pelzer N, Weller C, Zielman R, Heath A, Madden P, Montgomery G, Martin N, Borck G, Göbel H, Heinze A, Heinze-Kuhn K, Williams F, Hartikainen A, Pouta A, van den Ende J, Uitterlinden A, Hofman A, Amin N, Hottenga J, Vink J, Heikkilä K, Alexander M, Muller-Myhsok B, Schreiber S, Meitinger T, Wichmann H, Aromaa A, Eriksson J, Traynor B, Trabzuni D, Rossin E, Lage K, Jacobs S, Gibbs J, Birney E, Kaprio J, Penninx B, Boomsma D, van Duijn C, Raitakari O, Jarvelin M, Zwart J, Cherkas L, Strachan D, Kubisch C, Ferrari M, van den Maagdenberg A, Dichgans M, Wessman M, Smith G, Stefansson K, Daly M, Nyholt D, Chasman D, Palotie A
NAT GENET. 2013;45(8):912-7.

Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum
Basel-Vanagaite L, Hershkovitz T, Heyman E, Raspall-Chaure M, Kakar N, Smirin-Yosef P, Vila-Pueyo M, Kornreich L, Thiele H, Bode H, Lagovsky I, Dahary D, Haviv A, Hubshman M, Pasmanik-Chor M, Nürnberg P, Gothelf D, Kubisch C, Shohat M, Macaya A, Borck G
AM J HUM GENET. 2013;93(3):524-9.

Estrogen and the male hippocampus: genetic variation in the aromatase gene predicting serum estrogen is associated with hippocampal gray matter volume in men
Bayer J, Rune G, Kutsche K, Schwarze U, Kalisch R, Büchel C, Sommer-Blöchl T
HIPPOCAMPUS. 2013;23(2):117-21.

Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations
Bierhals T, Korenke G, Uyanik G, Kutsche K
EUR J MED GENET. 2013;56(6):325-30.

Expanding the phenotype associated with 17q12 duplication: case report and review of the literature
Bierhals T, Maddukuri S, Kutsche K, Girisha K
AM J MED GENET A. 2013;161A(2):352-9.

Ausgewählte Ionenkanalerkrankungen des peripheren Nervensystems
Borck G, Kubisch C
Med Genet. 2013;25(4):448-453.

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition
Brownstein C, Towne M, Luquette L, Harris D, Marinakis N, Meinecke P, Kutsche K, Campeau P, Yu T, Margulies D, Agrawal P, Beggs A
EUR J MED GENET. 2013;56(12):678-82.

Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci
Chilian B, Abdollahpour H, Bierhals T, Haltrich I, Fekete G, Nagel I, Rosenberger G, Kutsche K
CLIN GENET. 2013;84(6):560-5.

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A
Cushion T, Dobyns W, Mullins J, Stoodley N, Chung S, Fry A, Hehr U, Gunny R, Aylsworth A, Prabhakar P, Uyanik G, Rankin J, Rees M, Pilz D
BRAIN. 2013;136(Pt 2):536-48.

Zerebrale Auffälligkeiten im fetalen MRT – Pränatale Diagnose einer tuberösen Sklerose
de Sousa M, Remus C, Lüttgen S, Diehl W, Hecher K, Diemert A
Z GEBURTSH NEONATOL . 2013;217(5):189-90.

Parthenogenetic stem cells for tissue-engineered heart repair
Didié M, Christalla P, Rubart M, Muppala V, Döker S, Unsöld B, El-Armouche A, Rau T, Eschenhagen T, Schwoerer A, Ehmke H, Schumacher U, Fuchs S, Lange C, Becker A, Tao W, Scherschel J, Soonpaa M, Yang T, Lin Q, Zenke M, Han D, Schöler H, Rudolph C, Steinemann D, Schlegelberger B, Kattman S, Witty A, Keller G, Field L, Zimmermann W
J CLIN INVEST. 2013;123(3):1285-98.

C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients
Dobson-Stone C, Hallupp M, Loy C, Thompson E, Haan E, Sue C, Panegyres P, Razquin C, Seijo-Martínez M, Rene R, Gascon J, Campdelacreu J, Schmoll B, Volk A, Brooks W, Schofield P, Pastor P, Kwok J
PLOS ONE. 2013;8(2):e56899.

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies
Eisenberger T, Neuhaus C, Khan A, Decker C, Preising M, Friedburg C, Bieg A, Gliem M, Charbel Issa P, Holz F, Baig S, Hellenbroich Y, Galvez A, Platzer K, Wollnik B, Laddach N, Ghaffari S, Rafati M, Botzenhart E, Tinschert S, Börger D, Bohring A, Schreml J, Körtge-Jung S, Schell-Apacik C, Bakur K, Al-Aama J, Neuhann T, Herkenrath P, Nürnberg G, Nürnberg P, Davis J, Gal A, Bergmann C, Lorenz B, Bolz H
PLOS ONE. 2013;8(11):e78496.

The Legionella effector RidL inhibits retrograde trafficking to promote intracellular replication
Finsel I, Ragaz C, Hoffmann C, Harrison C, Weber S, van Rahden V, Johannes L, Hilbi H
CELL HOST MICROBE. 2013;14(1):38-50.

Recurrent multiple spinal paragangliomas as a manifestation of a metastatic composite paraganglioma-ganglioneuroblastoma
Gempt J, Baldawa S, Weirich G, Delbridge C, Hempel M, Lohse P, Meyer B, Ringel F
ACTA NEUROCHIR. 2013;155(7):1241-2.

Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome
Hüning I, Kutsche K, Rajaei S, Erlandsson A, Lovmar L, Rundberg J, Stefanova M
EUR J MED GENET. 2013;56(4):188-91.

A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts
Ingre C, Landers J, Rizik N, Volk A, Akimoto C, Birve A, Hübers A, Keagle P, Piotrowska K, Press R, Andersen P, Ludolph A, Weishaupt J
NEUROBIOL AGING. 2013;34(6):1708.e1-6.

Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry
Jae L, Raaben M, Riemersma M, van Beusekom E, Blomen V, Velds A, Kerkhoven R, Carette J, Topaloglu H, Meinecke P, Wessels M, Lefeber D, Whelan S, van Bokhoven H, Brummelkamp T
SCIENCE. 2013;340(6131):479-83.

Exon skipping and severe childhood-onset obesity caused by a leptin receptor mutation
Kakar N, Ahmad J, Kubisch C, Borck G
AM J MED GENET A. 2013;161(10):2672-4.

Sorafenib sensitizes head and neck squamous cell carcinoma cells to ionizing radiation
Laban S, Steinmeister L, Gleißner L, Grob T, Grénman R, Petersen C, Gal A, Knecht R, Dikomey E, Kriegs M
RADIOTHER ONCOL. 2013;109(2):286-92.

A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm
Leutermann R, Sheikhzadeh S, Brockstädt L, Rybczynski M, van Rahden V, Kutsche K, Kodolitsch Y, Rosenberger G
EUR J HUM GENET. 2013;22:944-948.

Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk
Lill C, Schjeide B, Graetz C, Liu T, Damotte V, Akkad D, Blaschke P, Gerdes L, Kroner A, Luessi F, Cournu-Rebeix I, Hoffjan S, Winkelmann A, Touze E, Pico F, Corcia P, Otaegui D, Antigüedad A, Alcina A, Comabella M, Montalban X, Olascoaga J, Matesanz F, Dörner T, Li S, Steinhagen-Thiessen E, Lindenberger U, Chan A, Rieckmann P, Hartung H, Aktas O, Lohse P, Buttmann M, Kümpfel T, Kubisch C, Zettl U, Epplen J, Fontaine B, Zipp F, Vandenbroeck K, Bertram L
J MED GENET. 2013;50(3):140-3.

MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis
Lill C, Schjeide B, Graetz C, Ban M, Alcina A, Ortiz M, Pérez J, Damotte V, Booth D, Lopez de Lapuente A, Broer L, Schilling M, Akkad D, Aktas O, Alloza I, Antigüedad A, Arroyo R, Blaschke P, Buttmann M, Chan A, Compston A, Cournu-Rebeix I, Dörner T, Epplen J, Fernández Ó, Gerdes L, Guillot-Noël L, Hartung H, Hoffjan S, Izquierdo G, Kemppinen A, Kroner A, Kubisch C, Kümpfel T, Li S, Lindenberger U, Lohse P, Lubetzki C, Luessi F, Malhotra S, Mescheriakova J, Montalban X, Papeix C, Paredes L, Rieckmann P, Steinhagen-Thiessen E, Winkelmann A, Zettl U, Hintzen R, Vandenbroeck K, Stewart G, Fontaine B, Comabella M, Urcelay E, Matesanz F, Sawcer S, Bertram L, Zipp F
BRAIN. 2013;136(Pt 6):1778-82.

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome
Lorenz S, Lissewski C, Simsek-Kiper P, Alanay Y, Boduroglu K, Zenker M, Rosenberger G
HUM MOL GENET. 2013;22(8):1643-53.

SHANK3 gene mutations associated with autism facilitate ligand binding to the Shank3 ankyrin repeat region
Mameza M, Dvoretskova E, Bamann M, Hönck H, Güler T, Boeckers T, Schoen M, Verpelli C, Sala C, Barsukov I, Dityatev A, Kreienkamp H
J BIOL CHEM. 2013;288(37):26697-708.

Reelin and the Cdc42/Rac1 guanine nucleotide exchange factor αPIX/Arhgef6 promote dendritic Golgi translocation in hippocampal neurons
Meseke M, Rosenberger G, Förster E
EUR J NEUROSCI. 2013;37(9):1404-12.

CASK-Related Disorders
Moog U, Uyanik G, Kutsche K
GeneReviews®. 2013.

Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.
Piña-Aguilar R, Zaragoza-Arévalo G, Rau I, Gal A, Alcántara-Ortigoza M, López-Martínez M, Santillán-Hernández Y
EUR J MED GENET. 2013;56(3):159-162.

Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry
Saha B, Lessel D, Nampoothiri S, Rao A, Hisama F, Peter D, Bennett C, Nürnberg G, Nürnberg P, Martin G, Kubisch C, Oshima J
Mol Genet Genomic Med. 2013;1(1):7-14.

Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2
Salem N, Hempel M, Heiliger K, Hosie S, Meitinger T, Oexle K
AM J MED GENET A. 2013;161A(6):1421-4.

A rare missense variant abrogates the signaling activity of tetherin/BST-2 without affecting its effect on virus release
Sauter D, Hotter D, Engelhart S, Giehler F, Kieser A, Kubisch C, Kirchhoff F
RETROVIROLOGY. 2013;10:85.

Mitochondrial membrane protein associated neurodegenration
Schulte E, Claussen M, Jochim A, Haack T, Hartig M, Hempel M, Prokisch H, Haun-Jünger U, Winkelmann J, Hemmer B, Förschler A, Ilg R
MOVEMENT DISORD. 2013;28(2):224-7.

Microduplication of 3p26.3 in nonsyndromic intellectual disability indicates an important role of CHL1 for normal cognitive function
Shoukier M, Fuchs S, Schwaibold E, Lingen M, Gärtner J, Brockmann K, Zirn B
NEUROPEDIATRICS. 2013;44(5):268-71.

Truncating mutations in FUS/TLS give rise to a more aggressive ALS-phenotype than missense mutations
Waibel S, Neumann M, Rosenbohm A, Birve A, Volk A, Weishaupt J, Meyer T, Müller U, Andersen P, Ludolph A
European journal of neurology : the official journal of the European Federation of Neurological Societies. 2013;20(3):540-6.

A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany
Weishaupt J, Waibel S, Birve A, Volk A, Mayer B, Meyer T, Ludolph A, Andersen P
NEUROBIOL AGING. 2013;34(5):1516.e9-15.

Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics
Wildhardt G, Zirn B, Graul-Neumann L, Wechtenbruch J, Suckfüll M, Buske A, Bohring A, Kubisch C, Vogt S, Strobl-Wildemann G, Greally M, Bartsch O, Steinberger D
BMJ OPEN. 2013;3(3):.

The RNA-binding protein MARTA2 regulates dendritic targeting of MAP2 mRNAs in rat neurons
Zivraj K, Rehbein M, Ölschläger-Schütt J, Schob C, Falley K, Buck F, Schweizer M, Schepis A, Kremmer E, Richter D, Kreienkamp H, Kindler S
J NEUROCHEM. 2013;124(5):670-84.

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.
Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, Arends M, Miró X, White J, Désir J, Abramowicz M, Dentici M, Lepri F, Hofmann K, Har-Zahav A, Ryder E, Karp N, Estabel J, Gerdin A, Podrini C, Ingham N, Altmüller J, Nürnberg G, Frommolt P, Abdelhak S, Pasmanik-Chor M, Konen O, Kelley R, Shohat M, Nürnberg P, Flint J, Steel K, Hoppe T, Kubisch C, Adams D, Borck G
AM J HUM GENET. 2012;91(6):998-1010.

Clinical utility gene card for: mucopolysaccharidosis type II.
Beck M, Wijburg F, Gal A
EUR J HUM GENET. 2012;20(1):.

Recurrent hypoglycemia due to growth hormone deficiency in an infant with Turner syndrome
Bonfig W, Salem N, Heiliger K, Hempel M, Lederer G, Bornkamm M, Wieland K, Lohse P, Burdach S, Oexle K
J PEDIATR ENDOCRINOL METAB. 2012;25(9-10):991-5.

Avoiding harmful procedures in patients with elevated α-fetoprotein concentrations
Bonfig W, Hempel M, Teichert-von Lüttichau I, Liptay S, Burdach S
Journal of pediatric hematology/oncology. 2012;34(7):e301-3.

An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group.
Borck G, Kakar N, Hoch J, Friedrich K, Freudenberg J, Nürnberg G, Yilmaz R, Daud S, Baloch D, Nürnberg P, Oldenburg J, Ahmad J, Kubisch C
HUM GENET. 2012;131(2):209-216.

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.
Borck G, Shin B, Stiller B, Mimouni-Bloch A, Thiele H, Kim J, Thakur M, Skinner C, Aschenbach L, Smirin-Yosef P, Har-Zahav A, Nürnberg G, Altmüller J, Frommolt P, Hofmann K, Konen O, Nürnberg P, Munnich A, Schwartz C, Gothelf D, Colleaux L, Dever T, Kubisch C, Basel-Vanagaite L
MOL CELL. 2012;48(4):641-646.

Regional and subcellular distribution of the receptor-targeting protein PIST in the rat central nervous system.
Chen A, Gössling E, Witkowski L, Bhindi A, Bauch C, Roussy G, Sarret P, Kreienkamp H, Stroh T
J COMP NEUROL. 2012;520(5):889-913.

Synthesis of two SAPAP3 isoforms from a single mRNA is mediated via alternative translational initiation.
Chua J, Schob C, Rehbein M, Gkogkas C, Richter D, Kindler S
SCI REP-UK. 2012;2:484.

Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.
Dalal A, Bhavani G, Lakshmi S, Bierhals T, Bierhals T, Nandineni M, Danda S, Danda D, Shah H, Vijayan S, Gowrishankar K, Phadke S, Bidchol A, Rao A, Kutsche K, Kutsche K, Girisha K
AM J MED GENET A. 2012;158A(11):2820-2828.

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
Dufke C, Schlipf N, Schüle R, Bonin M, Auer-Grumbach M, Stevanin G, Depienne C, Kassubek J, Klebe S, Klimpe S, Klopstock T, Otto S, Poths S, Seibel A, Stolze H, Gal A, Schöls L, Bauer P
NEUROGENETICS. 2012;13(3):215-227.

Hereditäre kardiale Amyloidosen mit Mutationen des Transthyretin. Ursache des plötzlichen Todes
Edler C, Saeger W, Orth U, Braun C, Wulff B, Sperhake J
HERZ. 2012;37(4):456-60.

[Hereditary cardiac amyloidosis with transthyretin mutations. A cause of sudden death ].
Edler C, Saeger W, Orth U, Braun C, Wulff B, Sperhake J
HERZ. 2012;37(4):456-460.

Are Dopa-responsive dystonia and Parkinson's disease related disorders?
Eggers C, Volk A, Kahraman D, Fink G, Leube B, Schmidt M, Timmermann L
PARKINSONISM RELAT D. 2012;18(5):666-8.

A phenotype map for 14q32.3 terminal deletions.
Engels H, Schüler H, Zink A, Wohlleber E, Brockschmidt A, Hoischen A, Drechsler M, Lee J, Ludwig K, Kubisch C, Schwanitz G, Weber R, Leube B, Hennekam R, Rudnik-Schöneborn S, Kreiss-Nachtsheim M, Reutter H
AM J MED GENET A. 2012;158A(4):695-706.

Genome-wide association analysis identifies susceptibility loci for migraine without aura.
Freilinger T, Anttila V, de Vries B, Malik R, Kallela M, Terwindt G, Pozo-Rosich P, Winsvold B, Nyholt D, Oosterhout v, Willebrordus P, Artto V, Todt U, Hämäläinen E, Fernández-Morales J, Louter M, Kaunisto M, Schoenen J, Raitakari O, Lehtimäki T, Vila-Pueyo M, Göbel H, Wichmann E, Sintas C, Uitterlinden A, Hofman A, Rivadeneira F, Heinze A, Tronvik E, Duijn v, Cornelia M, Kaprio J, Cormand B, Wessman M, Frants R, Meitinger T, Müller-Myhsok B, Zwart J, Färkkilä M, Kubisch C, Ferrari M, Palotie A, Dichgans M, Maagdenberg v, Arn M, Consortium I
NAT GENET. 2012;44(7):777-782.

Clinical utility gene card for: Fabry disease.
Gal A, Beck M, Winchester B
EUR J HUM GENET. 2012;20(2):.

Teaching neuroimages: oculodentodigital dysplasia: hypomyelination and syndactyly.
Ganos C, Münchau A, Holst B, Schlüter G, Gerloff C, Uyanik G
NEUROLOGY. 2012;79(16):140.

A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.
Gripp K, Bifeld E, Stabley D, Hopkins E, Meien S, Vinette K, Sol-Church K, Rosenberger G
AM J MED GENET A. 2012;158A(9):2106-2118.

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome
Haack T, Makowski C, Yao Y, Graf E, Hempel M, Wieland T, Tauer U, Ahting U, Mayr J, Freisinger P, Yoshimatsu H, Inui K, Strom T, Meitinger T, Yonezawa A, Prokisch H
J INHERIT METAB DIS. 2012;35(6):943-8.

Clinical utility gene card for: Werner syndrome.
Hisama F, Kubisch C, Martin G, Oshima J
EUR J HUM GENET. 2012;20(5):.

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.
Indrieri A, van Rahden V, Alexandra V, Tiranti V, Morleo M, Iaconis D, Tammaro R, D'Amato I, Conte I, Maystadt I, Demuth S, Kutsche K, Kutsche K, Zeviani M, Franco B
AM J HUM GENET. 2012;91(5):942-949.

Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy
Jaklin C, Heiliger K, Hempel M, Sollacher D, Cohen M, Makowski C, Meitinger T, Jauch A, Oexle K
EUR J MED GENET. 2012;55(10):568-72.

A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.
Kakar N, Goebel I, Daud S, Nürnberg G, Agha N, Ahmad A, Nürnberg P, Kubisch C, Ahmad J, Borck G
EUR J MED GENET. 2012;55(12):727-731.

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.
Kim H, Kim H, Leach N, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong I, Shen Y, Talkowski M, Ruderfer D, Lee J, Glotzbach C, Ha K, Kjaergaard S, Levin A, Romeike B, Kleefstra T, Bartsch O, Elsea S, Jabs E, MacDonald M, Harris D, Quade B, Ropers H, Shaffer L, Kutsche K, Layman L, Tommerup N, Kalscheuer V, Shi Y, Morton C, Kim C, Gusella J
AM J HUM GENET. 2012;91(1):56-72.

Dendritic mRNA targeting and translation.
Kindler S, Kreienkamp H
ADV EXP MED BIOL. 2012;970:285-305.

The role of the postsynaptic density in the pathology of the fragile X syndrome.
Kindler S, Kreienkamp H
Results Probl Cell Differ. 2012;54:61-80.

Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.
Klopocki E, Kähler C, Foulds N, Shah H, Joseph B, Vogel H, Lüttgen S, Bald R, Besoke R, Held K, Mundlos S, Kurth I
EUR J HUM GENET. 2012;20(6):705-708.

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
Klopocki E, Lohan S, Doelken S, Stricker S, Ockeloen C, Soares Thiele de Aguiar R, Lezirovitz K, Mingroni Netto R, Jamsheer A, Shah H, Kurth I, Habenicht R, Warman M, Devriendt K, Kordass U, Hempel M, Rajab A, Mäkitie O, Naveed M, Radhakrishna U, Antonarakis S, Horn D, Mundlos S
J MED GENET. 2012;49(2):119-25.

Rare hereditary diseases with defects in DNA-repair.
Knoch J, Kamenisch Y, Kubisch C, Berneburg M
EUR J DERMATOL. 2012;22(4):443-455.

Clinical utility gene card for: adrenoleukodystrophy.
Krasemann E, Kemp S, Gal A
EUR J HUM GENET. 2012;20(3):.

Replication of genetic susceptibility loci for testicular germ cell cancer in the Croatian population.
Lessel D, Gamulin M, Kulis T, Toliat M, Grgic M, Friedrich K, Zunec R, Balija M, Nürnberg P, Kastelan Z, Högel J, Kubisch C
CARCINOGENESIS. 2012;33(8):1548-1552.

Werner Syndrom - eine prototypische Form der segmentalen Progerie
Lessel D, Oshima J, Kubisch C
Med Genet. 2012;24(4):262-267.

Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects.
Lill C, Liu T, Schjeide B, Roehr J, Akkad D, Damotte V, Alcina A, Ortiz M, Arroyo R, Aitzkoa L, Blaschke P, Winkelmann A, Gerdes L, Luessi F, Fernadez O, Izquierdo G, Antigüedad A, Hoffjan S, Cournu-Rebeix I, Gromöller S, Faber H, Liebsch M, Meissner E, Chanvillard C, Touze E, Pico F, Corcia P, Dörner T, Steinhagen-Thiessen E, Baeckman L, Heekeren H, Li S, Lindenberger U, Chan A, Hartung H, Aktas O, Lohse P, Kümpfel T, Kubisch C, Zettl U, Fontaine B, Vandenbroeck K, Matesanz F, Urcelay E, Bertram L, Zipp F
J MED GENET. 2012;49(9):558-562.

Independent replication of STAT3 association with multiple sclerosis risk in a large German case-control sample.
Lill C, Schjeide B, Akkad D, Blaschke P, Winkelmann A, Gerdes L, Hoffjan S, Luessi F, Dörner T, Li S, Steinhagen-Thiessen E, Lindenberger U, Chan A, Hartung H, Aktas O, Lohse P, Kümpfel T, Kubisch C, Epplen J, Zettl U, Bertram L, Zipp F
NEUROGENETICS. 2012;13(1):83-86.

Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.
Lorenz S, Petersen C, Kordaß U, Seidel H, Zenker M, Kutsche K
EUR J MED GENET. 2012;55(11):615-619.

Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features.
Lozić B, Ljubković J, Pandurić D, Saltvig I, Kutsche K, Krželj V, Zemunik T
BRAZ J MED BIOL RES. 2012;45(12):1315-1319.

Oculo-facio-cardio-dental syndrome in three succeeding generations
Lozić B, Ljubković J, Pandurić D, Saltvig I, Kutsche K, Krželj V, Zemunik T
Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas / Sociedade Brasileira de Biofísica ... [et al.]. 2012;45(12):1315-9.

Makorin ring zinc finger protein 1 (MKRN1), a novel poly(A)-binding protein-interacting protein, stimulates translation in nerve cells.
Miroci H, Schob C, Kindler S, Ölschläger-Schütt J, Fehr S, Jungenitz T, Schwarzacher S, Bagni C, Mohr E
J BIOL CHEM. 2012;287(2):1322-1334.

Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits.
Ramakers G, Wolfer D, Rosenberger G, Kuchenbecker K, Kreienkamp H, Prange-Kiel J, Rune G, Richter K, Langnaese K, Masneuf S, Bösl M, Fischer K, Krugers H, Lipp H, van Galen E, Kutsche K
HUM MOL GENET. 2012;21(2):268-286.

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Röpke A, Moog U, Riess A, Thiel C, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici A, Zink A, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom T
LANCET. 2012;380(9854):1674-82.

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Rivière J, Mirzaa G, O'Roak B, Beddaoui M, Alcantara D, Conway R, St-Onge J, Schwartzentruber J, Gripp K, Nikkel S, Worthylake T, Sullivan C, Ward T, Butler H, Kramer N, Albrecht B, Armour C, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet B, Innes A, Lauzon J, Lin A, Mancini G, Meschino W, Reggin J, Saggar A, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu C, Consortium F, Majewski J, Bulman D, O'Driscoll M, Shendure J, Graham J, Boycott K, Dobyns W
NAT GENET. 2012;44(8):934-940.

Duchenne muscular dystrophy in a 4-year-old girl due to heterozygous frame shift deletion of the dystrophin gene and skewed X-inactivation.
Schänzer A, Rau I, Kress W, Köhler A, Neubauer B, Hahn A
KLIN PADIATR. 2012;224(4):256-258.

Sharpin contributes to TNFα dependent NFκB activation and anti-apoptotic signalling in hepatocytes.
Sieber S, Lange N, Kollmorgen G, Erhardt A, Quaas A, Gontarewicz A, Sass G, Tiegs G, Kreienkamp H
PLOS ONE. 2012;7(1):29993.

Association of shank 1A scaffolding protein with cone photoreceptor terminals in the mammalian retina.
Stella S, Vila A, Hung A, Rome M, Huynh U, Sheng M, Kreienkamp H, Brecha N
PLOS ONE. 2012;7(9):43463.

The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module.
van Rahden V, Brand K, Najm J, Heeren J, Heeren J, Braulke T, Kutsche K, Kutsche K
HUM MOL GENET. 2012;21(23):5019-5038.

Inositol-1,4,5-trisphosphate 3-kinase A regulates dendritic morphology and shapes synaptic Ca2+ transients.
Windhorst S, Minge D, Bähring R, Hüser S, Schob C, Blechner C, Lin H, Mayr G, Kindler S
CELL SIGNAL. 2012;24(3):750-757.

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.
Ahmad A, Daud S, Kakar N, Nürnberg G, Nürnberg P, Babar M, Thoenes M, Kubisch C, Ahmad J, Bolz H
MOL VIS. 2011;17:1940-1945.

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
Borck G, Atteeq U, Lee K, Pogoda H, Kakar N, von Ameln S, Grillet N, Hildebrand M, Ahmed Z, Nürnberg G, Ansar M, Basit S, Javed Q, Morell R, Nasreen N, Shearer A, Ahmad A, Kahrizi K, Shaikh R, Ali R, Khan S, Goebel I, Meyer N, Kimberling W, Webster J, Stephan D, Schiller M, Bahlo M, Najmabadi H, Gillespie P, Nürnberg P, Wollnik B, Riazuddin S, Smith R, Ahmad W, Müller U, Hammerschmidt M, Friedman T, Riazuddin S, Leal S, Ahmad J, Kubisch C
AM J HUM GENET. 2011;88(2):127-137.

Genome-wide association study reveals three susceptibility loci for common migraine in the general population.
Chasman D, Schürks M, Anttila V, de Vries B, Schminke U, Launer L, Terwindt G, Maagdenberg v, Arn M, Fendrich K, Völzke H, Ernst F, Griffiths L, Buring J, Kallela M, Kubisch C, Ridker P, Palotie A, Ferrari M, Hoffmann W, Zee R, Kurth T
NAT GENET. 2011;43(7):695-698.

Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.
Gal A, Rau I, Leila E, Kreienkamp H, Fehr S, Baklouti K, Chouchane I, Li Y, Rehbein M, Fuchs J, Fledelius H, Vilhelmsen K, Schorderet D, Munier F, Ostergaard E, Thompson D, Rosenberg T
AM J HUM GENET. 2011;88(3):382-390.

Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group.
Gal A, Hughes D, Winchester B
J INHERIT METAB DIS. 2011;34(2):509-514.

Ccdc66 null mutation causes retinal degeneration and dysfunction.
Gerding W, Schreiber S, Schulte-Middelmann T, de Castro Marques A, Atorf J, Akkad D, Dekomien G, Kremers J, Dermietzel R, Gal A, Rülicke T, Ibrahim S, Epplen J, Petrasch-Parwez E
HUM MOL GENET. 2011;20(18):3620-3631.

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation
Hartig M, Iuso A, Haack T, Kmiec T, Jurkiewicz E, Heim K, Roeber S, Tarabin V, Dusi S, Krajewska-Walasek M, Jozwiak S, Hempel M, Winkelmann J, Elstner M, Oexle K, Klopstock T, Mueller-Felber W, Gasser T, Trenkwalder C, Tiranti V, Kretzschmar H, Schmitz G, Strom T, Meitinger T, Prokisch H
AM J HUM GENET. 2011;89(4):543-50.

Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.
Hisama F, Lessel D, Leistritz D, Friedrich K, McBride K, Pastore M, Gottesman G, Saha B, Martin G, Kubisch C, Oshima J
AM J MED GENET A. 2011;155A(12):3002-3006.

N-α-acetyltransferase 10 protein suppresses cancer cell metastasis by binding PIX proteins and inhibiting Cdc42/Rac1 activity.
Hua K, Tan C, Johansson G, Lee J, Yang P, Lu H, Chen C, Su J, Chen P, Wu Y, Chi C, Kao H, Shih H, Chen M, Chien M, Chen P, Lee W, Cheng T, Rosenberger G, Chai C, Yang C, Huang M, Lai T, Chou T, Hsiao M, Kuo M
CANCER CELL. 2011;19(2):218-231.

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.
Huebner A, Gandia M, Frommolt P, Maak A, Wicklein E, Thiele H, Altmüller J, Wagner F, Viñuela A, Aguirre L, Moreno F, Maier H, Rau I, Giesselmann S, Nürnberg G, Gal A, Nürnberg P, Hübner C, Ignacio D, Kurth I
AM J HUM GENET. 2011;88(5):621-627.

Selective bilateral hippocampal lesions after theophylline-induced status epilepticus causes a permanent amnesic syndrome.
Kohl Z, Uyanik G, Lürding R, Schuierer G, Bogdahn U, Schröder M, Weidner N
J CLIN NEUROSCI. 2011;18(7):964-966.

Somatostatin receptor 5 is palmitoylated by the interacting ZDHHC5 palmitoyltransferase.
Kokkola T, Kruse C, Roy-Pogodzik E, Pekkinen J, Bauch C, Hönck H, Hennemann H, Kreienkamp H
FEBS LETT. 2011;585(17):2665-2670.

Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.
Kortüm F, Chyrek M, Fuchs S, Albrecht B, Gillessen-Kaesbach G, Mütze U, Seemanova E, Tinschert S, Wieczorek D, Rosenberger G, Kutsche K
Mol Syndromol. 2011;2(1):27-34.

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
Kortüm F, Das S, Flindt M, Morris-Rosendahl D, Stefanova I, Goldstein A, Horn D, Klopocki E, Kluger G, Martin P, Rauch A, Roumer A, Saitta S, Walsh L, Wieczorek D, Uyanik G, Kutsche K, Dobyns W
J MED GENET. 2011;48(6):396-406.

Talipes equinovarus as leading symptom of congenital myotonic dystrophy type 2.
Kruse B, Gal A
MUSCLE NERVE. 2011;43(5):768.

Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.
Laue K, Pogoda H, Daniel P, van Haeringen A, Alanay Y, von Ameln S, Rachwalski M, Morgan T, Gray M, Breuning M, Sawyer G, Sutherland-Smith A, Nikkels P, Kubisch C, Bloch W, Wollnik B, Hammerschmidt M, Robertson S
AM J HUM GENET. 2011;89(5):595-606.

Phenotypic spectrum associated with CASK loss-of-function mutations.
Moog U, Kutsche K, Kortüm F, Chilian B, Bierhals T, Apeshiotis N, Balg S, Chassaing N, Coubes C, Das S, Engels H, Hilde V, Grasshoff U, Heise M, Isidor B, Jarvis J, Koehler U, Martin T, Oehl-Jaschkowitz B, Ortibus E, Pilz D, Prabhakar P, Rappold G, Rau I, Rettenberger G, Schlüter G, Scott R, Shoukier M, Wohlleber E, Zirn B, Dobyns W, Uyanik G
J MED GENET. 2011;48(11):741-751.

Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.
Muschol N, Pohl S, Meyer A, Gal A, Ullrich K, Braulke T
AM J MED GENET A. 2011;155A(7):1634-1639.

3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome
Oexle K, Hempel M, Jauch A, Meitinger T, Rivera-Brugués N, Stengel-Rutkowski S, Strom T
EUR J MED GENET. 2011;54(3):225-30.

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.
Park J, Mehta P, Cooper A, Veivers D, Heimbach A, Stiller B, Kubisch C, Fung V, Krainc D, Mackay-Sim A, Sue C
HUM MUTAT. 2011;32(8):956-964.

Cohen syndrome diagnosis using whole genome arrays
Rivera-Brugués N, Albrecht B, Wieczorek D, Schmidt H, Keller T, Göhring I, Ekici A, Tzschach A, Garshasbi M, Franke K, Klopp N, Wichmann H, Meitinger T, Strom T, Hempel M
J MED GENET. 2011;48(2):136-40.

Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death.
Ugolino J, Fang S, Kubisch C, Monteiro M
HUM MOL GENET. 2011;20(18):3565-3577.

Somatostatin inhibits cell migration and reduces cell counts of human keratinocytes and delays epidermal wound healing in an ex vivo wound model.
Vockel M, Pollok S, Breitenbach U, Ridderbusch I, Kreienkamp H, Brandner J
PLOS ONE. 2011;6(5):19740.

Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.
Volk A, Carter O, Fricke J, Herkenrath P, Poggenborg J, Borck G, Demant A, Ivo R, Eysel P, Kubisch C, Neugebauer A
MOL VIS. 2011;17:1978-1986.

Horizontal gaze palsy with progressive scoliosis
Volk A, Carter O, Fricke J, Herkenrath P, Poggenborg J, Borck G, Demant A, Ivo R, Eysel P, Kubisch C, Neugebauer A
MOL VIS. 2011;17:1978-86.

Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.
Yis U, Uyanik G, Heck P, Smitka M, Nobel H, Ebinger F, Dirik E, Feng L, Kurul S, Brocke K, Unalp A, Özer E, Cakmakci H, Sewry C, Cirak S, Muntoni F, Hehr U, Morris-Rosendahl D
NEUROMUSCULAR DISORD. 2011;21(1):20-30.

Large intragenic deletions of the NF2 gene: breakpoints and associated phenotypes.
Abo-Dalo B, Kutsche K, Mautner V, Kluwe L
GENE CHROMOSOME CANC. 2010;49(2):171-175.

The face of Noonan syndrome: Does phenotype predict genotype.
Allanson J, Bohring A, Dörr H, Dufke A, Gillessen-Kaesbach G, Horn D, König R, Kratz C, Kutsche K, Pauli S, Raskin S, Rauch A, Turner A, Wieczorek D, Zenker M
AM J MED GENET A. 2010;152(8):1960-1966.

Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations.
Behrens M, Brüggemann N, Chana P, Venegas P, Kägi M, Parrao T, Orellana P, Garrido C, Rojas C, Hauke J, Hahnen E, González R, Seleme N, Fernández V, Schmidt A, Binkofski F, Kömpf D, Kubisch C, Hagenah J, Klein C, Ramirez A
MOVEMENT DISORD. 2010;25(12):1929-1937.

Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation.
Borck G, Beighton P, Wilhelm C, Kohlhase J, Kubisch C
AM J MED GENET A. 2010;152A(8):2090-2093.

The architecture of an excitatory synapse.
Chua J, Kindler S, Boyken J, Jahn R
J CELL SCI. 2010;123(6):819-823.

A restricted spectrum of NRAS mutations causes Noonan syndrome.
Cirstea I, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts A, Lepri F, Merbitz-Zahradnik T, König R, Kratz C, Pantaleoni F, Dentici M, Joshi V, Kucherlapati R, Mazzanti L, Mundlos S, Patton M, Silengo M, Rossi C, Zampino G, Digilio C, Stuppia L, Seemanova E, Pennacchio L, Gelb B, Dallapiccola B, Wittinghofer A, Ahmadian M, Tartaglia M, Zenker M
NAT GENET. 2010;42(1):27-29.

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortüm F, Fritsch A, Pientka F, Hellenbroich Y, Kalscheuer V, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers H, von Spiczak S, Tönnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Lionel V, Kutsche K
NAT GENET. 2010;42(11):1021-1026.

Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.
Fabretto A, Kutsche K, Harmsen M, Demarini S, Gasparini P, Fertz M, Zenker M
EUR J MED GENET. 2010;53(5):322-324.

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.
Friedrich K, Lee L, Leistritz D, Nürnberg G, Saha B, Hisama F, Eyman D, Lessel D, Nürnberg P, Li C, Garcia-F-Villalta M, Kets C, Schmidtke J, Cruz V, Akker V, Peter C, Boak J, Peter D, Compoginis G, Cefle K, Ozturk S, López N, Wessel T, Poot M, Ippel P, Groff-Kellermann B, Hoehn H, Kubisch C, Oshima J
HUM GENET. 2010;128(1):103-111.

Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation
Girisha K, Lewis L, Phadke S, Kutsche K
AM J MED GENET A. 2010;152A(11):2861-4.

Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy.
Guettsches A, Kuechler A, Gal A, Schmitz W, Tegenthoff M, Vorgerd M
J NEUROL. 2010;257(8):1394-1395.

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits
Horn D, Kapeller J, Rivera-Brugués N, Moog U, Lorenz-Depiereux B, Eck S, Hempel M, Wagenstaller J, Gawthrope A, Monaco A, Bonin M, Riess O, Wohlleber E, Illig T, Bezzina C, Franke A, Spranger S, Villavicencio-Lorini P, Seifert W, Rosenfeld J, Klopocki E, Rappold G, Strom T
HUM MUTAT. 2010;31(11):E1851-60.

Incontinetia pigmenti-related myopathy or unsolved "double trouble"?
Huttner H, Richter G, Jünemann A, Kress W, Weis J, Schröder J, Gal A, Doerfler A, Udd B, Schröder R
NEUROMUSCULAR DISORD. 2010;20(2):139-141.

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Kim H, Ahn J, Kurth I, Ullmann R, Kim H, Kulharya A, Ha K, Itokawa Y, Meliciani I, Wenzel W, Lee D, Rosenberger G, Ozata M, Bick D, Sherins R, Nagase T, Tekin M, Kim S, Kim C, Ropers H, Gusella J, Kalscheuer V, Choi C, Layman L
AM J HUM GENET. 2010;87(4):465-479.

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.
Kumar R, Pilz D, Babatz T, Cushion T, Harvey K, Topf M, Yates L, Robb S, Uyanik G, Mancini G, Rees M, Harvey R, Dobyns W
HUM MOL GENET. 2010;19(14):2817-2827.

Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.
Langmann T, Gioia D, Rau I, Rau I, Maksimovic N, Maksimovic N, Corbo J, Renner A, Zrenner E, Kumaramanickavel G, Karlstetter M, Arsenijevic Y, Gal A, Gal A, Rivolta C
AM J HUM GENET. 2010;87(3):376-381.

Clinical, radiological and genetic aspects of leukodystrophies.
László A, Elpeleg O, Horváth K, Jakobs C, Kóbor J, Gal A, Barsi P, Kelemen A, Saracz J, Svékus A, Tegzes A, Vörös E
IDEGGYOGY SZEMLE. 2010;63(7-8):266-273.

The Na+-dependent chloride-bicarbonate exchanger SLC4A8 mediates an electroneutral Na+ reabsorption process in the renal cortical collecting ducts of mice.
Leviel F, Hübner C, Houillier P, Morla L, Soumaya E, Brideau G, Hatim H, Parker M, Kurth I, Kougioumtzes A, Sinning A, Pech V, Riemondy K, Miller R, Hummler E, Shull G, Aronson P, Doucet A, Wall S, Chambrey R, Eladari D
J CLIN INVEST. 2010;120(5):1627-1635.

First independent replication study confirms the strong genetic association of ANXA11 with sarcoidosis.
Li Y, Pabst S, Kubisch C, Grohé C, Wollnik B
THORAX. 2010;65(10):939-940.

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.
Li Y, Pohl E, Boulouiz R, Schraders M, Nürnberg G, Charif M, Admiraal R, von Ameln S, Baessmann I, Kandil M, Veltman J, Nürnberg P, Kubisch C, Barakat A, Kremer H, Wollnik B
AM J HUM GENET. 2010;86(3):479-484.

Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.
Lommel M, Cirak S, Willer T, Hermann R, Uyanik G, van Bokhoven H, Körner C, Voit T, Bari I, Hehr U, Strahl S
NEUROLOGY. 2010;74(2):157-164.

Neuro-kardio-fazio-kutane Syndrome: Überlappende Phänotypen mit gemeinsamem molekularem Signalweg interdisziplinäres Betreuungskonzept
Mautner V, Nguyen R, Bernhardt A, Von Kodolitsch Y, Zenker M, Kutsche K
Med Genet. 2010;1:10-19.

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.
Morris-Rosendahl D, Segel R, Born A, Conrad C, Loeys B, Brooks S, Müller L, Zeschnigk C, Botti C, Rabinowitz R, Uyanik G, Crocq M, Kraus U, Degen I, Faes F
EUR J HUM GENET. 2010;18(10):1100-1106.

A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn.
Steichen-Gersdorf E, Griesmaier E, Pientka F, Kotzot D, Kutsche K
CLIN DYSMORPHOL. 2010;19(2):82-84.

Somatostatin regulates tight junction function and composition in human keratinocytes.
Vockel M, Breitenbach U, Kreienkamp H, Brandner J
EXP DERMATOL. 2010;19(10):888-894.

Risk gene variants for nicotine dependence in the CHRNA5-CHRNA3-CHRNB4 cluster are associated with cognitive performance.
Winterer G, Mittelstrass K, Giegling I, Lamina C, Fehr C, Brenner H, Breitling L, Nitz B, Raum E, Müller H, Gallinat J, Gal A, Heim K, Prokisch H, Meitinger T, Hartmann A, Möller H, Gieger C, Wichmann H, Illig T, Dahmen N, Rujescu D
AM J MED GENET B NEUROPSYCHIATR GENET. 2010;153(8):1448-1458.

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.
Azam M, Khan M, Gal A, Hussain A, Shah S, Khan M, Sadeque A, Bokhari H, Collin R, Orth U, Genderen v, Maria M, den Hollander A, Cremers F, Qamar R
MOL VIS. 2009;15:2526-2534.

Case report of a child with otoacoustic emissions and profound hearing loss in whom otoacoustic emissions were preserved after cochlear implantation
Beutner D, Lang-Roth R, Foerst A, Volk A, Walger M
Cochlear implants international. 2009;10(3):174-7.

RDH12 Activity and Effects on Retinoid Processing in the Murine Retina.
Chrispell J, Feathers K, Kane M, Kim C, Brooks M, Khanna R, Kurth I, Huebner C, Gal A, Mears A, Swaroop A, Napoli J, Sparrow J, Thompson D
J BIOL CHEM. 2009.

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
Cordeddu V, Elia D, Pennacchio L, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio M, Martinelli S, Flex E, Lepri F, Deborah B, Kutsche K, Ferrero G, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapiccola B, Iyengar R, Bazzicalupo P, Gelb B, Tartaglia M
NAT GENET. 2009;41(9):1022-1026.

Kidney transplantation in patients with Fabry disease
Cybulla M, Walter K, Schwarting A, Divito R, Feriozzi S, Binder C, Kotanko P, Kroepfl T, Plecko B, Bodamer O, Hauser A, Kleinert J, Kristoferitsch W, Schreiber W, Georges B, Nassogne M, Pirson Y, Dehout F, Henry F, Roland D, Vauthier L, Goyens P, Mazoin N, Van Maldergem L, Eyskens F, Bultas J, Karetová D, Linhart A, Dostalova G, Choukroun G, Berthelot J, Hardy P, Carey Reomonnay S, Lacombe D, Bataille P, Benziane S, Mittelberger J, Thevenot C, Dobbelaere D, Hachulla E, Dussol B, Reade R, Khau van Kien A, Kaminsky P, Guyot C, Lino M, Ghafari T, Germain D, Knebelmann B, Lidove O, Ouali N, Touati G, Monlun E, Jaussaud R, Richalet B, Klotz V, Andres E, Caraman D, Bazex J, Perrichot R, Hennermann J, von Arnim Baas A, Stolz S, Hoffmann B, Chrobot E, Grabbe S, Jansen T, Neumann H, Schluh G, Gal A, Muschol N, Shäfer E, Ullrich K, Das A, Illsinger S, Lücke T, Bähner F, Baron K, Beck M, Bruns K, Delgado-Sanchez S, Hartung R, Kalkum G, Kampmann C, Keilmann A, Lackner K, Pitz S, Whybra C, Wiethoff C, Koletzko B, Pontz B, Böttcher T, Miethe S, Rolfs A, Davydenko I, Wanner C, Maródi L, Gabrielli O, Gobbi S, Concolino D, Strisciuglio P, Zampetti A, Borsini W, Buchner S, Menni F, Parini R, Ravaglia R, Santus F, Burlina A, Burlina A, Manara R, Antuzzi D, Castorina M, Ricci R, Kaarbøe [, Skarbøvik A, Houge G, Svarstad E, Tøndel C, Barba M, Botella R, Franco A, Torras J, Gómez Huertas E, Torregrosa V, Fernández V, Paniagua J, Rodriguez F, Herrera J, Febrer I, Perez Garcia A, Martin I, Barbado F, Garcia de Lorenzo A, López M, González J, Ballarin J, Torra R, Hernández S, Ara J, Bonal J, Pintos G, Andreu J, Rivera A, Oqvist B, Huyen-Do U, Barbey F, Hayoz D, Theytaz J, Schärer M, Schulthess G, Steinmann B, Widmer U, Hollak C, Ormel E, van Duinen A, Vetter A, Corcoran M, Cox T, Deegan P, Ramaswami U, Wright N, Baker R, Blincoe M, Bruce R, Burns A, Close L, Davey C, Elliott J, Elliott P, Evans S, Ginsberg L, Hajioff D, Hughes D, Ioannidis A, Keshav S, Mehta A, Milligan A, Orteu C, Richfield L, Sunder-Plassmann G
TRANSPL INT. 2009;22(4):475-481.

Missense exchanges in the TTBK2 gene mutated in SCA11.
Edener U, Kurth I, Meiner A, Hoffmann F, Hübner C, Bernard V, Gillessen-Kaesbach G, Zühlke C
J NEUROL. 2009.

Shank1 mRNA: dendritic transport by kinesin and translational control by the 5'untranslated region.
Falley K, Schütt J, Iglauer P, Menke K, Maas C, Kneussel M, Kindler S, Wouters F, Richter D, Kreienkamp H
TRAFFIC. 2009;10(7):844-857.

Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa.
Frio T, Panek S, Iseli C, Gioia D, Alessandro S, Gal A, Gal A, Rivolta C
MOL VIS. 2009;15:2627-2633.

Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.
Gremer L, Alessandro D, Merbitz-Zahradnik T, Dallapiccola B, Morlot S, Tartaglia M, Kutsche K, Ahmadian M, Rosenberger G
HUM MOL GENET. 2009.

Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.
Harmsen M, Azzarello-Burri S, González G, Mar M, Gillessen-Kaesbach G, Meinecke P, Müller D, Rauch A, Rossier E, Seemanova E, Spaich C, Steiner B, Wieczorek D, Kutsche K, Kutsche K
EUR J HUM GENET. 2009;17(10):1207-1215.

Microdeletion syndrome 16p11.2-p12.2
Hempel M, Rivera Brugués N, Wagenstaller J, Lederer G, Weitensteiner A, Seidel H, Meitinger T, Strom T
AM J MED GENET A. 2009;149A(10):2106-12.

The murine AE4 promoter predominantly drives type B intercalated cell specific transcription.
Hentschke M, Hentschke S, Borgmeyer U, Hübner C, Kurth I
HISTOCHEM CELL BIOL. 2009.

Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.
Kaufmann A, Vogt S, Uhlhaas S, Stienen D, Kurth I, Hameister H, Mangold E, Kötting J, Kaminsky E, Propping P, Friedl W, Aretz S
J MOL DIAGN. 2009;11(2):131-139.

Dendritic mRNA targeting of Jacob and N-methyl-d-aspartate-induced nuclear translocation after calpain-mediated proteolysis.
Kindler S, Dieterich D, Schütt J, Sahin J, Karpova A, Mikhaylova M, Schob C, Gundelfinger E, Kreienkamp H, Kreutz M
J BIOL CHEM. 2009;284(37):25431-25440.

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.
Kurth I, Pamminger T, Hennings J, Soehendra D, Huebner A, Rotthier A, Baets J, Senderek J, Topaloglu H, Farrell S, Nürnberg G, Nürnberg P, Peter D, Gal A, Kaether C, Timmerman V, Hübner C
NAT GENET. 2009;41(11):1179-1181.

Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.
Kurth I, Klopocki E, Stricker S, van Oosterwijk J, Vanek S, Altmann J, Santos H, Harssel v, Jeske J, de Ravel T, Gal A, Gal A, Mundlos S
NAT GENET. 2009;41(8):862-863.

Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data
Mehta A, Beck M, Elliott P, Giugliani R, Linhart A, Sunder-Plassmann G, Schiffmann R, Barbey F, Ries M, Rozenfeld P, Nicholls K, Plecko B, Kotanko P, Binder C, Brunner-Krainz M, Kleinert J, Kristoferitsch W, Schreiber W, Eyskens F, Nassogne M, Pirson Y, Goyens P, Libert M, Verellen-Dumoulin C, Dehout F, Roland D, Van Maldergem L, Mazoin N, Casey R, Chan A, West M, Bichet D, Drouin R, Dostalova G, Choukroun G, Drobacheff M, Goizet C, Bataille P, Aaron L, Boudet R, Benzaine S, Vuillemet F, Lorcerie B, Thevenot C, Hachulla E, Fouilhoux A, Dussol B, Reade R, Kaminsky P, Kuster A, Lino M, Ghafari T, Lidove O, Germain D, Ouali N, Gaborieau V, Jaussaud R, Hardy P, Richalet B, Klotz V, Andres E, Labarthe F, Perrichot R, von Armin Baas A, Hennermann J, Stolz S, Hoffmann B, Neumann H, Gal A, Muschol N, Das A, Illsinger S, Haase C, Schueuermann R, Koletzko B, Rolfs A, Rimmele F, Weis S, Wössner R, Wanner C, Maródi L, Altarescu G, Gabrielli O, Concolino D, Zoli G, Parini R, Di Vito R, Burlina A, Perticoni G, Feliciani C, Feriozzi S, Komatsuda A, Yabe I, Furusyo F, Katafuchi R, Maruyama S, Sato T, Kai Y, Furujyo M, Okada S, Mori T, Sugi Y, Ootake A, Satou K, Komamura K, Eto Y, Ueno Y, Hollak C, Wijburg F, Houge G, Vujkovac B, Zerjav-Tansek M, Barba M, Franco A, Climent V, Arenas M, Del Pino M, Herrera J, Huertas E, Pintos G, Ibernon M, Torra R, Torregrosa V, González J, Mora A, Valverde V, Martin J, Del Bosque E, Pineda M, Prados M, Torras J, Martin I, Hernández S, Barbado F, Rodriguez M, Bosch T, Ruiz M, de Toro J, Paniagua J, Tamargo L, Fernández V, García A, Febrer M, Rivera A, Cabadés F, Ferrari P, Bonny O, Theytaz J, Huynh-Do Y, Teta D, Ruggieri F, Magage S, Lubanda J, Hendriksz C, Deegan P, Ramaswami U, Hughes D, Pastores G, Clarke J
LANCET. 2009;374:1986-1996.

Eps8 regulates axonal filopodia in hippocampal neurons in response to brain-derived neurotrophic factor (BDNF).
Menna E, Disanza A, Cagnoli C, Schenk U, Gelsomino G, Frittoli E, Hertzog M, Offenhauser N, Sawallisch C, Kreienkamp H, Gertler F, Fiore D, Paolo P, Scita G, Matteoli M
PLOS BIOL. 2009;7(6):1000138.

Association of a variant in the muscarinic acetylcholine receptor 2 gene (CHRM2) with nicotine addiction.
Mobascher A, Rujescu D, Mittelstraß K, Giegling I, Lamina C, Nitz B, Brenner H, Fehr C, Breitling L, Gallinat J, Rothenbacher D, Raum E, Müller H, Ruppert A, Hartmann A, Möller H, Gal A, Gieger C, Wichmann H, Illig T, Dahmen N, Winterer G
AM J MED GENET B NEUROPSYCHIATR GENET. 2009.

NKCC1-dependent GABAergic excitation drives synaptic network maturation during early hippocampal development.
Pfeffer C, Stein V, Keating D, Maier H, Rinke I, Rudhard Y, Hentschke M, Rune G, Jentsch T, Hübner C
J NEUROSCI. 2009;29(11):3419-3430.

Dendritic assembly of heteromeric gamma-aminobutyric acid type B receptor subunits in hippocampal neurons.
Ramírez O, Vidal R, Tello J, Vargas K, Kindler S, Härtel S, Couve A
J BIOL CHEM. 2009;284(19):13077-13085.

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.
Renner A, Fiebig B, Weber B, Wissinger B, Andreasson S, Gal A, Cropp E, Kohl S, Kellner U
AM J OPHTHALMOL. 2009;147(3):511-518.

Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome.
Rosenberger G, Meien S, Kutsche K
HUM MUTAT. 2009;30(3):352-362.

The insulin receptor substrate of 53 kDa (IRSp53) limits hippocampal synaptic plasticity.
Sawallisch C, Berhörster K, Disanza A, Mantoani S, Kintscher M, Stoenica L, Dityatev A, Sieber S, Kindler S, Morellini F, Schweizer M, Boeckers T, Korte M, Scita G, Kreienkamp H
J BIOL CHEM. 2009;284(14):9225-9236.

Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?
Schob C, Orth U, Gal A, Kindler S, Chakarova C, Bhattacharya S, Rüther K
OPHTHALMIC GENET. 2009;30(2):96-98.

Fragile X mental retardation protein regulates the levels of scaffold proteins and glutamate receptors in postsynaptic densities.
Schütt J, Falley K, Richter D, Kreienkamp H, Kindler S
J BIOL CHEM. 2009;284(38):25479-25487.

Interaction of the human somatostatin receptor 3 with the multiple PDZ domain protein MUPP1 enables somatostatin to control permeability of epithelial tight junctions.
Vockel M, Liew C, Glassmeier G, Brandner J, Fernandez-Ballester G, Schwarz J, Schulz S, Buck F, Serrano L, Richter D, Kreienkamp H
FEBS LETT. 2009;583(1):49-54.

A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease.
Whybra C, Miebach E, Mengel E, Gal A, Baron K, Beck M, Kampmann C
GENET MED. 2009;11(6):441-449.

No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome.
Abo-Dalo B, Roes M, Canún S, Delatycki M, Gillessen-Kaesbach G, Hrytsiuk I, Jung C, Kerr B, Mowat D, Seemanova E, Steiner C, Stewart H, Thierry P, van Buggenhout G, White S, Zenker M, Kutsche K
CLIN DYSMORPHOL. 2008;17(3):181-185.

Inhibition of aldehyde dehydrogenase type 2 attenuates vasodilatory action of nitroglycerin in human veins.
Huellner M, Schrepfer S, Weyand M, Weiner H, Rau I, Eschenhagen T, Rau T
FASEB J. 2008;22(7):2561-2568.

On BC1 RNA and the fragile X mental retardation protein.
Iacoangeli A, Rozhdestvensky T, Dolzhanskaya N, Tournier B, Schütt J, Brosius J, Denman R, Khandjian E, Kindler S, Tiedge H
P NATL ACAD SCI USA. 2008;105(2):734-739.

Reply to Bagni: On BC1 RNA and the fragile X mental retardation protein.
Iacoangeli A, Rozhdestvensky T, Dolzhanskaya N, Tournier B, Schütt J, Brosius J, Denman R, Khandjian E, Kindler S, Tiedge H
P NATL ACAD SCI USA. 2008;105(22):29.

Mice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitability.
Jacobs S, Ruusuvuori E, Sipilä S, Haapanen A, Damkier H, Kurth I, Hentschke M, Schweizer M, Rudhard Y, Laatikainen L, Tyynelä J, Praetorius J, Voipio J, Hübner C
P NATL ACAD SCI USA. 2008;105(1):311-316.

Onset and progression of the Anderson-Fabry disease related cardiomyopathy.
Kampmann C, Linhart A, Baehner F, Palecek T, Wiethoff C, Miebach E, Whybra C, Gal A, Bultas J, Beck M
INT J CANCER. 2008;130(3):367-373.

Disruption of neurexin 1 associated with autism spectrum disorder.
Kim H, Kishikawa S, Higgins A, Seong I, Donovan Diana J, Shen Y, Lally E, Weiss L, Najm J, Kutsche K, Descartes M, Holt L, Braddock S, Troxell R, Kaplan L, Volkmar F, Klin A, Tsatsanis K, Harris D, Noens I, Pauls D, Daly M, MacDonald M, Morton C, Quade Bradley J, Gusella J
AM J HUM GENET. 2008;82(1):199-207.

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Kim H, Kurth I, Lan F, Meliciani I, Wenzel W, Eom S, Kang G, Rosenberger G, Tekin M, Ozata M, Bick D, Sherins R, Walker S, Shi Y, Gusella J, Layman L
AM J HUM GENET. 2008;83(4):511-519.

Scaffolding proteins at the postsynaptic density: shank as the architectural framework.
Kreienkamp H
Handb Exp Pharmacol. 2008;186:365-380.

Does proximal myotonic myopathy show anticipation?
Kruse B, Wöhrle D, Steinbach P, Gal A
HUM MUTAT. 2008;29(8):100-102.

The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
Meyer A, Kossow K, Gal A, Steglich C, Mühlhausen C, Ullrich K, Braulke T, Muschol N
HUM MUTAT. 2008;29(5):770.

AlphaPIX Rho GTPase guanine nucleotide exchange factor regulates lymphocyte functions and antigen receptor signaling.
Missy K, Hu B, Schilling K, Harenberg A, Sakk V, Kuchenbecker K, Kutsche K, Fischer K
MOL CELL BIOL. 2008;28(11):3776-3789.

Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.
Morris-Rosendahl D, Najm J, Lachmeijer A, Sztriha L, Martins M, Kuechler A, Haug V, Zeschnigk C, Martin P, Santos M, Vasconcelos C, Omran H, Kraus U, Van der Knaap M, Schuierer G, Kutsche K, Uyanik G
CLIN GENET. 2008;74(5):425-433.

[Mutations of the frizzled-4 gene. Their impact on medical care of patients with autosomal dominant exudative vitreoretinopathy]
Müller M, Kusserow C, Orth U, Klär-Dissars U, Laqua H, Gal A
OPHTHALMOLOGE. 2008;105(3):262-268.

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
Najm J, Horn D, Rau I, Golden J, Chizhikov V, Jyotsna S, Christian S, Ullmann R, Kuechler A, Haas C, Flubacher A, Charnas L, Uyanik G, Frank U, Klopocki E, Dobyns W, Kutsche K
NAT GENET. 2008.

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.
Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers F, Bergen A, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nürnberg G, Nürnberg P, Bolz H, Gal A, Berger W
MOL VIS. 2008;14:1081-1093.

Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry disease.
Rohard I, Schaefer E, Kampmann C, Beck M, Gal A
J INHERIT METAB DIS. 2008.

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
Schulz A, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hübner C, Korenke G, König R, Kress W, Krüger G, Meinecke P, Mücke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M
CLIN GENET. 2008;73(1):62-70.

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, Rosa A, Lerer I, Hamri A, Alegria P, Loureiro J, Tada M, Hannequin D, Anheim M, Goizet C, Gonzalez-Martinez V, Isabelle L, Forlani S, Iwabuchi K, Meiner V, Uyanik G, Erichsen A, Feki I, Pasquier F, Belarbi S, Cruz V, Depienne C, Truchetto J, Garrigues G, Tallaksen C, Tranchant C, Nishizawa M, Vale J, Coutinho P, Santorelli F, Mhiri C, Brice A, Durr A
BRAIN. 2008;131(3):772-784.

Polyneuropathy, scoliosis, tall stature, and oligodontia represent novel features of the interstitial 6p deletion phenotype
Zirn B, Hempel M, Hahn A, Neubauer B, Wagenstaller J, Rivera-Bruguès N, Strom T, Köhler A
AM J MED GENET A. 2008;146A(22):2960-5.

Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome.
Abo-Dalo B, Kim H, Roes M, Stefanova M, Higgins A, Shen Y, Mundlos S, Quade B, Gusella J, Kutsche K
AM J MED GENET A. 2007;143(22):2668-2674.

Leukoencephalopathy upon disruption of the chloride channel ClC-2.
Blanz J, Schweizer M, Auberson M, Maier H, Münscher A, Hübner C, Jentsch T
J NEUROSCI. 2007;27(24):6581-6589.

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.
Chakarova C, Papaioannou M, Khanna H, Lopez I, Waseem N, Shah A, Theis T, Friedman J, Maubaret C, Bujakowska K, Veraitch B, El-Aziz A, Mai M, Prescott D, Parapuram S, Bickmore W, Gal A, Gal A, Hamel C, Marigo V, Ponting C, Wissinger B, Zrenner E, Matter K, Swaroop A, Koenekoop R, Bhattacharya S
AM J HUM GENET. 2007;81(5):1098-1103.

Interaction of brain somatostatin receptors with the PDZ domains of PSD-95.
Christenn M, Kindler S, Schulz S, Buck F, Richter D, Kreienkamp H
FEBS LETT. 2007;581(27):5173-5177.

Mechanisms of hypotonic inhibition of the sodium, proton exchanger type 1 (NHE1) in a biliary epithelial cell line (Mz-Cha-1).
Elsing C, Gosch I, Hennings J, Hübner C, Herrmann T
ACTA PHYSIOL. 2007;190(3):199-208.

Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD)
Guenther U, Varon R, Schlicke M, Dutrannoy V, Volk A, Hübner C, von Au K, Schuelke M
HUM MUTAT. 2007;28(8):808-15.

Absence of oncogenic transformation despite acquisition of cytogenetic aberrations in long-term cultured telomerase-immortalized human fetal hepatocytes.
Haker B, Fuchs S, Dierlamm J, Brümmendorf T, Wege H
CANCER LETT. 2007;256(1):120-127.

Candidate loci for Zimmermann-Laband syndrome at 3p14.3.
Hyung-Goo K, Higgins Anne W, Herrick Steven R, Kishikawa S, Nicholson L, Kutsche K, Ligon Azra H, Harris David J, Macdonald Marcy E, Bruns Gail A, Morton Cynthia C, Quade Bradley J, Gusella James F
AM J MED GENET A. 2007;143(2):107-111.

Phenotypes of female adrenoleukodystrophy.
Jung H, Rau I, Jung S, Landau K, Gal A, Heppner F
NEUROLOGY. 2007;68(12):960-961.

[Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene]
Keilhauer C, Gal A, Sold J, Zimmermann J, Netzer K, Schramm L
KLIN MONATSBL AUGENH. 2007;224(3):207-209.

Inverse agonist exposure enhances ligand binding and G protein activation of the human MT1 melatonin receptor, but leads to receptor down-regulation.
Kokkola T, Vaittinen M, Laitinen J
J PINEAL RES. 2007;43(3):255-262.

Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function.
Kurth I, Thompson D, Rüther K, Feathers K, Chrispell J, Schroth J, McHenry C, Schweizer M, Skosyrski S, Gal A, Hübner C
MOL CELL BIOL. 2007;27(4):1370-1379.

L1CAM mutation in a boy with hydrocephalus and duplex kidneys.
Liebau M, Gal A, Superti-Furga A, Omran H, Pohl M
PEDIATR NEPHROL. 2007;22(7):1058-1061.

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
Martínez-Garay I, Tomás M, Oltra S, Ramser J, Moltó M, Prieto F, Meindl A, Kutsche K, Martínez F
EUR J HUM GENET. 2007;15(1):29-34.

Expression of anion exchanger 3 influences respiratory rate in awake and isoflurane anesthetized mice.
Meier S, Hübner C, Groeben H, Peters J, Bingmann D, Wiemann M
J PHYSIOL PHARMACOL. 2007;58 Suppl 5(Pt 1):371-378.

Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A).
Meyer A, Kossow K, Gal A, Mühlhausen C, Ullrich K, Braulke T, Muschol N
PEDIATRICS. 2007;120(5):1255-1261.

HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?
Rau I, Shaw G, Kutsche K
MOL VIS. 2007;13:1475-1482.

Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome.
Rau I, Rauch A, Orth U, Schwarzer U, Trautmann U, Kutsche K
EUR J MED GENET. 2007;50(6):421-431.

Activation of polymorphonuclear neutrophils in patients with impaired left ventricular function.
Rudolph V, Rudolph T, Hennings J, Blankenberg S, Schnabel R, Steven D, Haddad M, Knittel K, Wende S, Wenzel J, Münzel T, Heitzer T, Meinertz T, Hübner C, Baldus S
FREE RADICAL BIO MED. 2007;43(8):1189-1196.

Plexin B3 is genetically associated with verbal performance and white matter volume in human brain.
Rujescu D, Meisenzahl E, Krejcova S, Giegling I, Zetzsche T, Reiser M, Born C, Möller H, Veske A, Gal A, Finckh U
MOL PSYCHIATR. 2007;12(2):115, 190-194.

Disruption of erythroid K-Cl cotransporters alters erythrocyte volume and partially rescues erythrocyte dehydration in SAD mice.
Rust M, Alper S, Rudhard Y, Shmukler B, Vicente R, Brugnara C, Trudel M, Jentsch T, Hübner C
J CLIN INVEST. 2007;117(6):1708-1717.

Molecular and functional characterization of Kv4.2 and KChIP2 expressed in the porcine left ventricle.
Schultz J, Volk T, Bassalaý P, Hennings J, Hübner C, Ehmke H
PFLUG ARCH EUR J PHY. 2007;454(2):195-207.

The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
Schuster A, Janecke A, Wilke R, Schmid E, Thompson D, Utermann G, Wissinger B, Zrenner E, Gal A
INVEST OPHTH VIS SCI. 2007;48(4):1824-1831.

C-terminal prenylation of the CLN3 membrane glycoprotein is required for efficient endosomal sorting to lysosomes.
Storch S, Pohl S, Quitsch A, Falley K, Braulke T
TRAFFIC. 2007;8(4):431-444.

p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness.
Szabo V, Kreienkamp H, Rosenberg T, Gal A
HUM MUTAT. 2007;28(7):741-742.

Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia
Volk A, Karbasiyan M, Semmler A, Todt U, Urbach H, Klockgether T, Linnebank M
Birth defects research. Part A, Clinical and molecular teratology. 2007;79(3):249-51.

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
Zenker M, Lehmann K, Schulz A, Barth H, Hansmann D, Koenig R, Korinthenberg R, Kreiss-Nachtsheim M, Meinecke P, Morlot S, Mundlos S, Quante A, Raskin S, Schnabel D, Wehner L, Kratz C, Horn D, Kutsche K
J MED GENET. 2007;44(2):131-135.

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
Zenker M, Horn D, Wieczorek D, Allanson J, Pauli S, van der Burgt I, Doerr H, Gaspar H, Hofbeck M, Gillessen-Kaesbach G, Koch A, Meinecke P, Mundlos S, Nowka A, Rauch A, Reif S, von Schnakenburg C, Seidel H, Wehner L, Zweier C, Bauhuber S, Matejas V, Kratz C, Thomas C, Kutsche K
J MED GENET. 2007;44(10):651-656.

Fabry disease in a female patient due to a de novo point mutation at position 691 of exon 5.
Brokalaki E, Hentschke M, Grabbe S, Jansen T
EUR J MED RES. 2006;11(7):306-308.

PAK4 and alphaPIX determine podosome size and number in macrophages through localized actin regulation.
Gringel A, Walz D, Rosenberger G, Minden A, Kutsche K, Kopp P, Linder S
J CELL PHYSIOL. 2006;209(2):568-579.

Elevated phenylalanine levels interfere with neurite outgrowth stimulated by the neuronal cell adhesion molecule L1 in vitro.
Hartwig C, Gal A, Santer R, Ullrich K, Finckh U, Kreienkamp H
FEBS LETT. 2006;580(14):3489-3492.

Mice with a targeted disruption of the Cl-/HCO3- exchanger AE3 display a reduced seizure threshold.
Hentschke M, Wiemann M, Hentschke S, Kurth I, Hermans-Borgmeyer I, Seidenbecher T, Jentsch T, Gal A, Hübner C
MOL CELL BIOL. 2006;26(1):182-191.

Germ cell nuclear factor is a repressor of CRIPTO-1 and CRIPTO-3.
Hentschke M, Kurth I, Borgmeyer U, Hübner C
J BIOL CHEM. 2006;281(44):33497-33504.

[Manifestation of Fabry disease in a heterozygous female patient. New perspectives using enzyme replacement therapy]
Jansen T, Brokalaki E, Hillen U, Hentschke M, Grabbe S
DEUT MED WOCHENSCHR. 2006;131(28-29):1590-1593.

Telangiectasias on the neck as a presenting cutaneous sign of Fabry disease.
Jansen T, Graue N, Dissemond J, Hillen U, Hentschke M, Grabbe S
J DERMATOL. 2006;33(9):652-654.

Prevalence of uncontrolled hypertension in patients with Fabry disease.
Kleinert J, Dehout F, Schwarting A, Lorenzo d, García A, Ricci R, Kampmann C, Beck M, Ramaswami U, Gal A, Gal A, Houge G, Widmer U, Mehta A, Sunder-Plassmann G
AM J HYPERTENS. 2006;19(8):782-787.

Postsynaptic recruitment of Dendrin depends on both dendritic mRNA transport and synaptic anchoring.
Kremerskothen J, Kindler S, Finger I, Veltel S, Barnekow A
J NEUROCHEM. 2006;96(6):1659-1666.

The forkhead transcription factor Foxi1 directly activates the AE4 promoter.
Kurth I, Hentschke M, Hentschke S, Borgmeyer U, Gal A, Hübner C
BIOCHEM J. 2006;393(1):277-283.

Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy
Langer S, Geigl J, Wagenstaller J, Lederer G, Hempel M, Daumer-Haas C, Leifheit H, Speicher M
AM J MED GENET A. 2006;140(7):764-8.

Disease manifestations and X inactivation in heterozygous females with Fabry disease.
Maier E, Osterrieder S, Whybra C, Ries M, Gal A, Beck M, Roscher A, Muntau A
Acta Paediatr Suppl. 2006;95(451):30-38.

The novel centrosomal associated protein CEP55 is present in the spindle midzone and the midbody.
Martinez-Garay I, Rustom A, Gerdes H, Kutsche K
GENOMICS. 2006;87(2):243-253.

A new type of leukoencephalopathy with metaphyseal chondrodysplasia maps to Xq25-q27.
Neubauer B, Stefanova I, Hübner C, Neumaier-Probst E, Bohl J, Oppermann H, Stö H, Hahn A, Stephani U, Kohlschütter A, Gal A
NEUROLOGY. 2006;67(4):587-591.

Autoantibodies against CD28 are associated with atopic diseases.
Neuber K, Mähnss B, Hübner C, Gergely H, Weichenthal M
CLIN EXP IMMUNOL. 2006;146(2):262-269.

Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.
Poët M, Kornak U, Schweizer M, Zdebik A, Scheel O, Hoelter S, Wurst W, Schmitt A, Fuhrmann J, Planells-Cases R, Mole S, Hübner C, Jentsch T
P NATL ACAD SCI USA. 2006;103(37):13854-13859.

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.
Rau I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, Kutsche K
AM J HUM GENET. 2006;79(5):878-889.

Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C.
Ries M, Schaefer E, Lührs T, Mani L, Kuhn J, Vanier M, Krummenauer F, Gal A, Beck M, Mengel E
J INHERIT METAB DIS. 2006;29(5):647-652.

AlphaPIX and betaPIX and their role in focal adhesion formation
Rosenberger G, Kutsche K
EUR J CELL BIOL. 2006;85(3-4):265-274.

Neurogenic mechanisms contribute to hypertension in mice with disruption of the K-Cl cotransporter KCC3.
Rust M, Faulhaber J, Budack M, Pfeffer C, Maritzen T, Didié M, Beck F, Boettger T, Schubert R, Ehmke H, Jentsch T, Hübner C
CIRC RES. 2006;98(4):549-556.

[The role of the ophthalmologist in the management of juvenile neuronal ceroid lipofuscinosis]
Rüther K, Gal A, Kohlschütter A
KLIN MONATSBL AUGENH. 2006;223(6):542-544.

Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations.
Tomatsu S, Sukegawa K, Trandafirescu G, Gutierrez M, Nishioka T, Yamaguchi S, Orii T, Froissart R, Maire I, Chabas A, Cooper A, Paola D, Gal A, Noguchi A, Sly W
EUR J HUM GENET. 2006;14(7):838-845.

First pregnancy and life after preimplantation genetic diagnosis by polar body analysis for mucopolysaccharidosis type I.
Tomi D, Schultze-Mosgau A, Eckhold J, Schopper B, Al-Hasani S, Steglich C, Gal A, Axt-Fliedner R, Schwinger E, Diedrich K, Griesinger G
REPROD BIOMED ONLINE. 2006;12(2):215-220.

Alterations in glucose homeostasis in SSTR1 gene-ablated mice.
Wang X, Norman M, Yang J, Magnusson J, Kreienkamp H, Richter D, DeMayo F, Brunicardi F
MOL CELL ENDOCRINOL. 2006;247(1-2):82-90.

Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease.
Warshawsky I, Chernova O, Hübner C, Stindl R, Henneke M, Gal A, Natowicz M
CLIN CHEM. 2006;52(7):1267-1275.

IgA nephropathy in two adolescent sisters heterozygous for Fabry disease.
Whybra C, Schwarting A, Kriegsmann J, Gal A, Mengel E, Kampmann C, Baehner F, Schaefer E, Beck M
PEDIATR NEPHROL. 2006;21(9):1251-1256.

Letzte Aktualisierung aus dem FIS: 27.06.2017 - 00:04 Uhr