Pauline E. Schneeberger

<i>CACNA1I</i> gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

Yousra El Ghaleb, Pauline E. Schneeberger, Monica L. Fernández‐Quintero et al. · Brain · 2021 · 66 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome

Christiane K. Bauer, Pauline E. Schneeberger, Fanny Kortüm et al. · The American Journal of Human Genetics · 2019 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Pauline E. Schneeberger, Fanny Kortüm, Georg Christoph Korenke et al. · Brain · 2020 · 59 citations · Full text

Medicine, Molecular Genetics, Neurology +13

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

Alban Ziegler, Rémi Duclaux‐Loras, Céline Revenu et al. · The American Journal of Human Genetics · 2021 · 26 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation

Pauline E. Schneeberger, Tatjana Bierhals, Axel Neu et al. · Scientific Reports · 2019 · 20 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17