Maja Hempel

Maja Hempel

UNVERIFIED PROFILE

Are you Maja Hempel?   Register this Author

Register author
Maja Hempel

Maja Hempel

Publications by authors named "Maja Hempel"

Are you Maja Hempel?   Register this Author

52Publications

1944Reads

47Profile Views

Phenotype in an Infant with Homozygous Truncating Mutation.

N Engl J Med 2019 08 17;381(5):486-488. Epub 2019 Jul 17.

University Medical Center Eppendorf, Hamburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMc1905039DOI Listing
August 2019

In Reply.

Authors:
Maja Hempel

Dtsch Arztebl Int 2019 Jul;116(27-28):487

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3238/arztebl.2019.0487bDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6718896PMC
July 2019

Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis.

J Clin Invest 2019 05 16;129(7):2841-2855. Epub 2019 May 16.

Department of Experimental and Clinical Pharmacology and Pharmacogenomics, University of Tübingen, Tübingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1172/JCI98890DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6597216PMC
May 2019

Exome Sequencing in Children.

Dtsch Arztebl Int 2019 Mar;116(12):197-204

*Joint last authors; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf; Department of Pediatrics, University Medical Center Hamburg-Eppendorf; Institute of Human Genetics, Klinikum Rechts der Isar, TUM, Munich; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen; Institute of Human Genetics, Helmholtz Center Munich; Undiagnosed Disease Program at the University Medical Center Hamburg-Eppendorf (UDP-UKE).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3238/arztebl.2019.0197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6514384PMC
March 2019

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder.

Am J Hum Genet 2018 10;103(4):579-591

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2018.09.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174322PMC
October 2018

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

Am J Med Genet A 2017 Nov 8;173(11):3098-3103. Epub 2017 Sep 8.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5659324PMC
November 2017

Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twins.

Pediatr Neonatol 2017 10 22;58(5):458-459. Epub 2016 Nov 22.

Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pedneo.2016.05.007DOI Listing
October 2017

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.

Eur J Med Genet 2017 Sep 4;60(9):494-498. Epub 2017 Jul 4.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212173016
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2017.07.001DOI Listing
September 2017

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Brain 2017 May;140(5):1316-1336

The Danish Epilepsy Centre, Dianalund, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awx054DOI Listing
May 2017

Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies.

Hum Genet 2017 03 8;136(3):339-346. Epub 2017 Feb 8.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-017-1762-2DOI Listing
March 2017

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Am J Hum Genet 2016 09 18;99(3):711-719. Epub 2016 Aug 18.

Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address:

View Article

Download full-text PDF

Source
http://www.cell.com/ajhg/pdf/S0002-9297(16)30267-1.pdf
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S000292971630267
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2016.06.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011044PMC
September 2016

Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2.

Am J Med Genet A 2013 Jun 23;161A(6):1421-4. Epub 2013 Apr 23.

Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität, München, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35883DOI Listing
June 2013

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

Mov Disord 2013 Feb 19;28(2):224-7. Epub 2012 Nov 19.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.25256DOI Listing
February 2013

Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy.

Eur J Med Genet 2012 Oct 7;55(10):568-72. Epub 2012 Jul 7.

Institut für Humangenetik, Klinikum rechts der Isar, TU München, Trogerstr. 32, 81675 München, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2012.06.010DOI Listing
October 2012

Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization.

Am J Med Genet A 2009 Oct;149A(10):2106-12

Institute of Human Genetics, Technische Universität München, Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33042DOI Listing
October 2009

Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy.

Am J Med Genet A 2006 Apr;140(7):764-8

Institut für Humangenetik, Technische Universität München, München, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31141DOI Listing
April 2006