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Author Details

Nadja Ehmke
Berlin Institute of Health at Charite - Universitatsmedizin Berlin
2014
31
17
PMIDPaper TitleJournal TitlePublished Year
36193988Novel mutation and expanding phenotype in IRF2BP2 deficiency.Rheumatology (Oxford)2023
37188825Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.Eur J Hum Genet2023
34379057Biallelic truncating variants in <i>ATP9A</i> cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.J Med Genet2022
35670808Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.Genet Med2022
35276006Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders.J Clin Endocrinol Metab2022
35145301GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.Nat Genet2022
33442026Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly.Genet Med2021
33495529CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.Genet Med2021
34514393CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph.NAR Genom Bioinform2021
32338743VarFish: comprehensive DNA variant analysis for diagnostics and research.Nucleic Acids Res2020
31834374MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.Brain2020
31923704Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.Bone2020
31769200TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy.Am J Med Genet A2020
33242881Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.Brain2020
32592542Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.Am J Med Genet A2020
30679821Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.Genet Med2019
31353024Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.Am J Hum Genet2019
31164752PEDIA: prioritization of exome data by image analysis.Genet Med2019
31106342MutationDistiller: user-driven identification of pathogenic DNA variants.Nucleic Acids Res2019
29289958Regulatory variants of FOXG1 in the context of its topological domain organisation.Eur J Hum Genet2018
30167850Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).Hum Genet2018
30315159Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.Nat Commun2018
30451859Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.Nat Commun2018
28605144Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.Arthritis Rheumatol2017
28422407Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus.Am J Med Genet A2017
28345786A de novo nonsense mutation in ZBTB18 plus a de novo 15q13.3 microdeletion in a 6-year-old female.Am J Med Genet A2017
29100093De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.Am J Hum Genet2017
27311832CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.Am J Med Genet A2016
25186178Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.Sci Transl Med2014
25331754First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.Am J Med Genet A2014
25480037Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.Am J Hum Genet2014
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Collaborators

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Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin
Co-authored papers 20
Uwe Kornak
Institute of Human Genetics, University Medical Center Gottingen
Co-authored papers 12
Stefan Mundlos
Max Planck Institute for Molecular Genetics
Co-authored papers 11
Bj??rn Fischer-Zirnsak
Max Planck Institute for Molecular Genetics FG Development and Disease
Co-authored papers 10
Manuel Holtgrewe
Berlin Institute of Health
Co-authored papers 7
Peter M Krawitz
Institute for Genomic Statistics and Bioinformatics, University of Bonn
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Malte Spielmann
Max Planck Institute for Molecular Genetics
Co-authored papers 6
Jochen Hecht
The Barcelona Institute of Science and Technology
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Dominik Seelow
Berliner Institut fur Gesundheitsforschung - Charite
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Tim M Strom
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Ulrike Kr??ger
Berlin Institute of Health (BIH)
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Marten J??ger
Charite Universitatsmedizin Berlin
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Max Schubach
Berlin Institute of Health of Health at Charite - Universitatsmedizin Berlin
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Luitgard Graul-Neumann
Charite Universitaetsmedizin Berlin
Co-authored papers 3
Markus M N??then
Institute of Human Genetics, University Hospital Bonn
Co-authored papers 2
Sebastian K??hler
Division of Emergency Medicine University of Calgary Calgary Alberta Canada.
Co-authored papers 2
Alessandra Renieri
University of Siena
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Michael C Frühwald
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Tomasz Zemojtel
Berlin Institute of Health (BIH)
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Maha S Zaki
Human Genetics and Genome Research Institute, National Research Centre
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Elaine H Zackai
Children's Hospital of Philadelphia
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Alexis Brice
Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS
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