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

por Schneeberger, Pauline E., Bierhals, Tatjana, Neu, Axel, Hempel, Maja, Kutsche, Kerstin
Publicado 2019

Novel biallelic variants expand the SLC5A6-related phenotypic spectrum

por Holling, Tess, Nampoothiri, Sheela, Tarhan, Bedirhan, Schneeberger, Pauline E., Vinayan, Kollencheri Puthenveettil, Yesodharan, Dhanya, Roy, Arun Grace, Radhakrishnan, Periyasamy, Alawi, Malik, Rhodes, Lindsay, Girisha, Katta Mohan, Kang, Peter B., Kutsche, Kerstin
Publicado 2022

Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing

por Nayak, Shalini S., Schneeberger, Pauline E., Patil, Siddaramappa J., Arun, Karegowda M., Suresh, Pujar V., Kiran, Viralam S., Siddaiah, Sateesh, Maiya, Shreesha, Venkatachalagupta, Shrikanth K., Kausthubham, Neethukrishna, Kortüm, Fanny, Rau, Isabella, Wey-Fabrizius, Alexandra, Van Den Heuvel, Lotte, Meester, Josephina, Van Laer, Lut, Shukla, Anju, Loeys, Bart, Girisha, Katta M., Kutsche, Kerstin
Publicado 2021

CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

por El Ghaleb, Yousra, Schneeberger, Pauline E, Fernández-Quintero, Monica L, Geisler, Stefanie M, Pelizzari, Simone, Polstra, Abeltje M, van Hagen, Johanna M, Denecke, Jonas, Campiglio, Marta, Liedl, Klaus R, Stevens, Cathy A, Person, Richard E, Rentas, Stefan, Marsh, Eric D, Conlin, Laura K, Tuluc, Petronel, Kutsche, Kerstin, Flucher, Bernhard E
Publicado 2021