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Nature Genetics|May 1, 2012
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degenerationJijun Wan, Michael Yourshaw, Hafsa Mamsa, et al.Kidney International|April 22, 2019
SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypesJung-Hyun Kim, Eun Young Park, David Chitayat, et al.Human Mutation|June 25, 2020
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disordersFatima Abdelfattah, Ariana Kariminejad, Anne-Karin Kahlert, et al.Human Mutation|May 4, 2021
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency DisorderJustin O Szot, Anne Slavotinek, Karen Chong, et al.The Journal of Clinical Investigation|April 16, 2019
ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegenerationTakuo Hirose, Alfredo Cabrera-Socorro, David Chitayat, et al.Journal of Human Genetics|April 20, 2021
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analysesAnna Hammarsjö, Maria Pettersson, David Chitayat, et al.Brain : a Journal of Neurology|October 26, 2020
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterationsJorge Diaz, Xavier Gérard, Michel-Boris Emerit, et al.Nature Genetics|September 24, 2013
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical developmentSilvia Cappello, Mary J Gray, Caroline Badouel, et al.Science (New York, N.Y.)|July 10, 2021
Mapping the cellular origin and early evolution of leukemia in Down syndromeElvin Wagenblast, Joana Araújo, Olga I Gan, et al.American Journal of Human Genetics|February 7, 2008
Structural variation of chromosomes in autism spectrum disorderChristian R Marshall, Abdul Noor, John B Vincent, et al.Pageof 53