Nadja Ehmke

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 13

Top Topics

Autism Spectrum Disorder

Transcranial Magnetic Stimulation

Top Venues

American journal of medical genetics. Part A

Journal of medical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Johannes Kopp, Leonard A Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Érika Dayane Leal Rodrigues, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human genetics 143 (5) (2024)
Sarina Schwartzmann, Max Zhao, Henrike Lisa Sczakiel, Gabriele Hildebrand, Nadja Ehmke, Denise Horn, Martin A Mensah, Felix Boschann
RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant. American journal of medical genetics. Part A (2024)
Johannes Kopp, Leonard A Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Érika Dayane Leal Rodrigues, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human genetics (2024)
Johannes Kopp, Leonard A Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Érika Dayane Leal Rodrigues, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human genetics 143 (5) (2024)
Sarina Schwartzmann, Max Zhao, Henrike Lisa Sczakiel, Gabriele Hildebrand, Nadja Ehmke, Denise Horn, Martin A Mensah, Felix Boschann
RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant. American journal of medical genetics. Part A 194 (7) (2024)
Sarina Schwartzmann, Max Zhao, Henrike Lisa Sczakiel, Gabriele Hildebrand, Nadja Ehmke, Denise Horn, Martin A Mensah, Felix Boschann
RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant. American journal of medical genetics. Part A 194 (7) (2024)
Johannes Kopp, Leonard A Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Érika Dayane Leal Rodrigues, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human genetics 143 (5) (2024)
Johannes Kopp, Leonard A Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Érika Dayane Leal Rodrigues, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human genetics 143 (5) (2024)
Guido Vogt, Sarah Verheyen, Sarina Schwartzmann, Nadja Ehmke, Cornelia Potratz, Anette Schwerin-Nagel, Barbara Plecko, Manuel Holtgrewe, Dominik Seelow, Jasmin Blatterer, Michael R Speicher, Uwe Kornak, Denise Horn, Stefan Mundlos, Björn Fischer-Zirnsak, Felix Boschann
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive. Journal of medical genetics (2021)
Aude-Annick Suter, Fernando Santos-Simarro, Pernille Mathiesen Toerring, Angela Abad Perez, Rosario Ramos-Mejia, Karen E Heath, Victoria Huckstadt, Manuel Parrón-Pajares, Martin Atta Mensah, Wiebke Hülsemann, Manuel Holtgrewe, Stefan Mundlos, Uwe Kornak, Oliver Bartsch, Nadja Ehmke
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals. American journal of medical genetics. Part A 182 (9) (2020)
Felix Boschann, Kyra E Stuurman, Christiaan de Bruin, Marjon van Slegtenhorst, Hermine A van Duyvenvoorde, Sarina G Kant, Nadja Ehmke
TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy. American journal of medical genetics. Part A 182 (3) (2019)
Katharina Schoner, Rainer Bald, Denise Horn, Helga Rehder, Uwe Kornak, Nadja Ehmke
Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus. American journal of medical genetics. Part A 173 (6) (2017)
Nadja Ehmke, Sylvio Karge, Johannes Buchmann, Dirk Korinth, Denise Horn, Olaf Reis, Frank Häßler
A de novo nonsense mutation in ZBTB18 plus a de novo 15q13.3 microdeletion in a 6-year-old female. American journal of medical genetics. Part A 173 (5) (2017)