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ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants2021 Neurogenetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Katja Kloth, Bernarda Lozić, Julia Tagoe, Mariëtte J.V. Hoffer, Amelie T. van der Ven, Hölger Thiele, +6 more
28citations -
Dystrophinopathy patient data as a guide to interpretation of pregestational female population screening for DMD gene variants2024 Neurogenetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Lena Sagi‐Dain, Annemieke M Aartsma-Rus, Moran Echar, Julia Grinshpun‐Cohen, Amihood Singer
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