Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities [version 1...

by Mohan Narayanan, Keri Ramsey, Theresa Grebe, Isabelle Schrauwen, Szabolcs Szelinger, Matthew Huentelman, David Craig, Vinodh Narayanan, C4RCD Research Group
Published 2015-09-01

Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex

by Jinhong Wie, Apoorva Bharthur, Morgan Wolfgang, Vinodh Narayanan, Keri Ramsey, C4RCD Research Group, Kimberly Aranda, Qi Zhang, Yandong Zhou, Dejian Ren
Published 2020-07-01

Improved methods for RNAseq-based alternative splicing analysis

by Rebecca F. Halperin, Apurva Hegde, Jessica D. Lang, Elizabeth A. Raupach, C4RCD Research Group, Christophe Legendre, Winnie S. Liang, Patricia M. LoRusso, Aleksandar Sekulic, Jeffrey A. Sosman, Jeffrey M. Trent, Sampathkumar Rangasamy, Patrick Pirrotte, Nicholas J. Schork
Published 2021-05-01

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

by Aleksandra Siekierska, Hannah Stamberger, Tine Deconinck, Stephanie N. Oprescu, Michèle Partoens, Yifan Zhang, Jo Sourbron, Elias Adriaenssens, Patrick Mullen, Patrick Wiencek, Katia Hardies, Jeong-Soo Lee, Hoi-Khoanh Giong, Felix Distelmaier, Orly Elpeleg, Katherine L. Helbig, Joseph Hersh, Sedat Isikay, Elizabeth Jordan, Ender Karaca, Angela Kecskes, James R. Lupski, Reka Kovacs-Nagy, Patrick May, Vinodh Narayanan, Manuela Pendziwiat, Keri Ramsey, Sampathkumar Rangasamy, Deepali N. Shinde, Ronen Spiegel, Vincent Timmerman, Sarah von Spiczak, Ingo Helbig, C4RCD Research Group, AR working group of the EuroEPINOMICS RES Consortium, Sarah Weckhuysen, Christopher Francklyn, Anthony Antonellis, Peter de Witte, Peter De Jonghe
Published 2019-02-01