Kerstin Kutsche
Prof. Dr. rer. nat.
Kerstin Kutsche
  • Stellvertretende Institutsdirektorin
  • Wissenschaftliche Arbeitsgruppenleiterin
  • Fachhumangenetikerin (GfH)


Campus Forschung N27 , 1. Etage, Raumnummer 01.037
Deutsch (Muttersprache)






Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

BRAIN. 2020 [Epub ahead of print].

Microphthalmia with linear skin defects syndrome associated with hypopigmented mosaic lesions and ptosis: two siblings from Africa
Chateau A, Kutsche K, Fuchs S, Harms F, Kruse C, Mosam A
INT J DERMATOL. 2020;59(7):864-866.

A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions
Coste de Bagneaux P, von Elsner L, Bierhals T, Campiglio M, Johannsen J, Obermair G, Hempel M, Flucher B, Kutsche K
PLOS GENET. 2020;16(3):e1008625.

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
Lissewski C, Chune V, Pantaleoni F, De Luca A, Capri Y, Brinkmann J, Lepri F, Daniele P, Leenders E, Mazzanti L, Scarano E, Radio F, Kutsche K, Kuechler A, Gérard M, Ranguin K, Legendre M, Vial Y, van der Burgt I, Rinne T, Andreucci E, Mastromoro G, Digilio M, Cave H, Tartaglia M, Zenker M
EUR J HUM GENET. 2020 [Epub ahead of print].

Missense mutations in CASK interfere with neurexin binding and neurexin-induced oligomerization
Pan Y, Tibbe D, Harms F, Reißner C, Becker K, Dingmann B, Mirzaa G, Kattentidt-Mouravieva A, Shoukier M, Aggarwal S, Missler M, Kutsche K, Kreienkamp H
J NEUROCHEM. 2020 [Epub ahead of print].

Genotype-Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care
Stark V, Hensen F, Kutsche K, Kortüm F, Olfe J, Wiegand P, von Kodolitsch Y, Kozlik-Feldmann R, Müller G, Mir T
GENES-BASEL. 2020;11(7):.

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Wang H, Humbatova A, Liu Y, Qin W, Lee M, Cesarato N, Kortüm F, Kumar S, Romano M, Dai S, Mo R, Sivalingam S, Motameny S, Wu Y, Wang X, Niu X, Geng S, Bornholdt D, Kroisel P, Tadini G, Walter S, Hauck F, Girisha K, Calza A, Bottani A, Altmüller J, Buness A, Yang S, Sun X, Ma L, Kutsche K, Grzeschik K, Betz R, Lin Z
AM J HUM GENET. 2020;107(1):34-45.

Single-channel properties of skeletal muscle ryanodine receptor pore Δ4923FF4924 in two brothers with a lethal form of fetal akinesia
Xu L, Harms F, Chirasani V, Pasek D, Kortüm F, Meinecke P, Dokholyan N, Kutsche K, Meissner G
CELL CALCIUM. 2020;87:102182.


Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome
Bauer C, Schneeberger P, Kortüm F, Altmüller J, Santos-Simarro F, Baker L, Keller-Ramey J, White S, Campeau P, Gripp K, Kutsche K
AM J HUM GENET. 2019;104(6):1139-1157.

The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
Girisha K, von Elsner L, Neethukrishna K, Muranjan M, Shukla A, Bhavani G, Nishimura G, Kutsche K, Mortier G
HUM MUTAT. 2019;40(3):299-309.

Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype
Kloth K, Bierhals T, Johannsen J, Harms F, Juusola J, Johnson M, Grange D, Kutsche K
HUM GENET. 2019;138(6):625-634.

Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome
Mühlstädt K, De Backer J, von Kodolitsch Y, Kutsche K, Muiño Mosquera L, Brickwedel J, Girdauskas E, Mir T, Mahlmann A, Tsilimparis N, Staebler A, Schoof L, Seidel H, Berger J, Bernhardt A, Blankenberg S, Kölbel T, Detter C, Szöcs K, Kaemmerer H
J CLIN MED. 2019;8(12):.

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients
Renner S, Schüler H, Alawi M, Kolbe V, Rybczynski M, Woitschach R, Sheikhzadeh S, Stark V, Olfe J, Roser E, Seggewies F, Mahlmann A, Hempel M, Hartmann M, Hillebrand M, Wieczorek D, Volk A, Kloth K, Koch-Hogrebe M, Abou Jamra R, Mitter D, Altmüller J, Wey-Fabrizius A, Petersen C, Rau I, Borck G, Kubisch C, Mir T, von Kodolitsch Y, Kutsche K, Rosenberger G
GENET MED. 2019;21(8):1832-1841.

Fragmented Elastic Fibers in Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome) Without Focal Dermal Hypoplasia: Report of a Male Case and Review of the Literature
Rohdenburg C, Liersch J, Kutsche K, Schaller J
AM J DERMATOPATH. 2019 [Epub ahead of print].

de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation
Schneeberger P, Bierhals T, Neu A, Hempel M, Kutsche K
SCI REP-UK. 2019;9(1):12516.

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta and type III gamma: Update on GNPTAB and GNPTG mutations
Velho R, Harms F, Danyukova T, Ludwig N, Friez M, Cathey S, Filocamo M, Tappino B, Güneş N, Tüysüz B, Tylee K, Brammeier K, Heptinstall L, Oussoren E, van der Ploeg A, Petersen C, Alves S, Saavedra G, Schwartz I, Muschol N, Kutsche K, Pohl S
HUM MUTAT. 2019;40(7):842-864.


Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants
Bierhals T, Korenke G, Baethmann M, Marín L, Staudt M, Kutsche K
EUR J MED GENET. 2018;61(6):329-334.

Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation
Danyel M, Kortüm F, Dathe K, Kutsche K, Horn D
AM J MED GENET A. 2018;176(4):992-996.

The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor
Harms F, Alawi M, Amor D, Tan T, Cuturilo G, Lissewski C, Brinkmann J, Schanze D, Kutsche K, Zenker M
AM J MED GENET A. 2018;176(2):470-476.

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
Harms F, Kloth K, Bley A, Denecke J, Santer R, Lessel D, Hempel M, Kutsche K
AM J HUM GENET. 2018;103(4):579-591.

Elsahy-Waters syndrome is caused by biallelic mutations in CDH11
Harms F, Nampoothiri S, Anazi S, Yesodharan D, Alawi M, Kutsche K, Alkuraya F
AM J MED GENET A. 2018;176(2):477-482.

Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body
Harms F, Nampoothiri S, Kortüm F, Thomas J, Panicker V, Alawi M, Altmüller J, Yesodharan D, Kutsche K
BRIT J DERMATOL. 2018;179(5):1192-1194.

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9
Kortüm F, Jamra R, Alawi M, Berry S, Borck G, Helbig K, Tang S, Huhle D, Korenke G, Hebbar M, Shukla A, Girisha K, Steinlin M, Waldmeier-Wilhelm S, Montomoli M, Guerrini R, Lemke J, Kutsche K
EUR J HUM GENET. 2018;26(5):695-708.

RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1
Meyer Zum Büschenfelde U, Brandenstein L, von Elsner L, Flato K, Holling T, Zenker M, Rosenberger G, Kutsche K
PLOS GENET. 2018;14(5):e1007370.

Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation
Piard J, Essien Umanah G, Harms F, Abalde-Atristain L, Amram D, Chang M, Chen R, Alawi M, Salpietro V, Rees M, Chung S, Houlden H, Verloes A, Dawson T, Dawson V, Van Maldergem L, Kutsche K
BRAIN. 2018;141(6):e50.

A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy
Piard J, Umanah G, Harms F, Abalde-Atristain L, Amram D, Chang M, Chen R, Alawi M, Salpietro V, Rees M, Chung S, Houlden H, Verloes A, Dawson T, Dawson V, Van Maldergem L, Kutsche K
BRAIN. 2018;141(3):651-661.

Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum
Yesodharan D, Büschenfelde U, Kutsche K, Mohandas Nair K, Nampoothiri S
INDIAN J PEDIATR. 2018;85(12):1067-1072.


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. 2017;19(7):772-777.

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.

Genetic diagnostics of inherited aortic diseases: Medical strategy analysis
Kodolitsch Y, Kutsche K
HERZ. 2017;42(5):459-467.

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.

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.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy
Syrbe S, Harms F, Parrini E, Montomoli M, Mütze U, Helbig K, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne H, Hoffmann G, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke G, Kuechler A, Lämmer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek N, Møller R, Koeleman B, Matsumoto N, Dobyns W, Battaglia D, Lemke J, Kutsche K, Guerrini R
BRAIN. 2017;140(9):2322-2336.


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.

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.

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.

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

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.

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.

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.

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


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.

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.

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.

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.

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.


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 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.

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-BERLIN. 2014;26:246-254.

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.

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.

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.


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.

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.

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 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.

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


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.

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.

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.

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
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.

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.

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.

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.

Letzte Aktualisierung aus dem FIS: 02.12.2020 - 00:47 Uhr