PD Dr. med.
Maja Hempel
  • Medical Specialist in Human Genetics
  • Working area 1
Languages
German (Mother tongue)
English
Russian

Areas of expertise

Publications

2019

Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness
Mahler E, Johannsen J, Tsiakas K, Kloth K, Lüttgen S, Mühlhausen C, Alhaddad B, Haack T, Strom T, Kortüm F, Meitinger T, Muntau A, Santer R, Kubisch C, Lessel D, Denecke J, Hempel M
DTSCH ARZTEBL INT. 2019;116(12):197-204.

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.

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.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
Verheije R, Kupchik G, Isidor B, Kroes H, Lynch S, Hawkes L, Hempel M, Gelb B, Ghoumid J, D'Amours G, Chandler K, Dubourg C, Loddo S, Tümer Z, Shaw-Smith C, Nizon M, Shevell M, Van Hoof E, Anyane-Yeboa K, Cerbone G, Clayton-Smith J, Cogné B, Corre P, Corveleyn A, De Borre M, Hjortshøj T, Fradin M, Gewillig M, Goldmuntz E, Hens G, Lemyre E, Journel H, Kini U, Kortüm F, Le Caignec C, Novelli A, Odent S, Petit F, Revah-Politi A, Stong N, Strom T, van Binsbergen E, Devriendt K, Breckpot J
EUR J HUM GENET. 2019;27(2):278-290.

2018

Recessive mutations in >VPS13D cause childhood-onset movement disorders
Gauthier J, Meijer I, Lessel D, Mencacci N, Krainc D, Hempel M, Tsiakas K, Prokisch H, Rossignol E, Helm M, Rodan L, Karamchandani J, Carecchio M, Lubbe S, Telegrafi A, Henderson L, Lorenzo K, Wallace S, Glass I, Hamdan F, Michaud J, Rouleau G, Campeau P
ANN NEUROL. 2018;83(6):1089-1095.

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.

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
Lessel D, Gehbauer C, Bramswig N, Schluth-Bolard C, Venkataramanappa S, van Gassen K, Hempel M, Haack T, Baresic A, Genetti C, Funari M, Lessel I, Kuhlmann L, Simon R, Liu P, Denecke J, Kuechler A, de Kruijff I, Shoukier M, Lek M, Mullen T, Lüdecke H, Lerario A, Kobbe R, Krieger T, Demeer B, Lebrun M, Keren B, Nava C, Buratti J, Afenjar A, Shinawi M, Guillen Sacoto M, Gauthier J, Hamdan F, Laberge A, Campeau P, Louie R, Cathey S, Prinz I, Jorge A, Terhal P, Lenhard B, Wieczorek D, Strom T, Agrawal P, Britsch S, Tolosa E, Kubisch C
BRAIN. 2018;141(8):2299-2311.

2017

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.

Molecular and clinical spectra of FBXL4 deficiency
El-Hattab A, Dai H, Almannai M, Wang J, Faqeih E, Al Asmari A, Saleh M, Elamin M, Alfadhel M, Alkuraya F, Hashem M, Aldosary M, Almass R, Almutairi F, Alsagob M, Al-Owain M, Al-Sharfa S, Al-Hassnan Z, Rahbeeni Z, Al-Muhaizea M, Makhseed N, Foskett G, Stevenson D, Gomez-Ospina N, Lee C, Boles R, Schrier Vergano S, Wortmann S, Sperl W, Opladen T, Hoffmann G, Hempel M, Prokisch H, Alhaddad B, Mayr J, Chan W, Kaya N, Wong L
HUM MUTAT. 2017;38(12):1649-1659.

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
Glasgow R, Thompson K, Barbosa I, He L, Alston C, Deshpande C, Simpson M, Morris A, Neu A, Löbel U, Hall J, Prokisch H, Haack T, Hempel M, McFarland R, Taylor R
NEUROGENETICS. 2017;18(4):227-235.

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.

LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study
Hempel M, Kremer L, Tsiakas K, Alhaddad B, Haack T, Löbel U, Feichtinger R, Sperl W, Prokisch H, Mayr J, Santer R
MITOCHONDRION. 2017.

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. 2017;58(5):458-459.

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features
Kloth K, Denecke J, Hempel M, Johannsen J, Strom T, Kubisch C, Lessel D
EUR J MED GENET. 2017;60(9):494-498.

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities
Martin S, Chamberlin A, Shinde D, Hempel M, Strom T, Schreiber A, Johannsen J, Ousager L, Larsen M, Hansen L, Fatemi A, Cohen J, Lemke J, Sørensen K, Helbig K, Lessel D, Abou Jamra R
AM J HUM GENET. 2017;101(6):1013-1020.

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.

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1
Said E, Chong J, Hempel M, Denecke J, Soler P, Strom T, Nickerson D, Kubisch C, Bamshad M, Lessel D
AM J MED GENET A. 2017;173(11):3098-3103.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Wolff M, Johannesen K, Hedrich U, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda M, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun K, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister F, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene J, Arndt D, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet K, Charles P, Moog U, Õiglane-Shlik E, Mantovani J, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke G, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig K, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke J, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller R
BRAIN. 2017;140(5):1316-1336.

2016

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.

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
AM J HUM GENET. 2016;99(3):711-9.

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.

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.

2015

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.

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.

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.

2013

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.

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.

Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation
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.

2012

Avoiding harmful procedures in patients with elevated α-fetoprotein concentrations: hereditary persistence of α-fetoprotein is an important and benign differential diagnosis!
Bonfig W, Hempel M, Teichert-von Lüttichau I, Liptay S, Burdach S
J PEDIAT HEMATOL ONC. 2012;34(7):e301-3.

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.

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.

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.

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.

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.

Letzte Aktualisierung aus dem FIS: 18.11.2019 - 06:18 Uhr