Nadja Ehmke
9PUBLICATIONS
90CO-AUTHORS
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Publications (9)
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|Feb 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.Benita Menden, Rana D Incebacak Eltemur, German Demidov
|Aug 20, 2025
A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia.Jean Jacobs, Hristiana Lyubenova, Sven Potelle
|Apr 09, 2024
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.Johannes Kopp, Leonard A Koch, Hristiana Lyubenova
|Mar 22, 2024
RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant.Sarina Schwartzmann, Max Zhao, Henrike Lisa Sczakiel
|Aug 11, 2021
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.Guido Vogt, Sarah Verheyen, Sarina Schwartzmann
|Jun 28, 2020
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.Aude-Annick Suter, Fernando Santos-Simarro, Pernille Mathiesen Toerring
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Frequent Collaborators
3 joint publications
Felix Boschann
3 joint publications
Björn Fischer-Zirnsak
3 joint publications
Uwe Kornak
2 joint publications
Johannes Kopp
2 joint publications
Hristiana Lyubenova
2 joint publications
Stefan Mundlos
2 joint publications
Manuel Holtgrewe
2 joint publications
Dominik Seelow
2 joint publications
Denise Horn
1 joint publications
Tobias B Haack
