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American Journal of Human Genetics|August 22, 2017
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar HypoplasiaIsaac Marin-Valencia, Andreas Gerondopoulos, Maha S Zaki, et al.Human Genetics|October 4, 2024
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesisGuillaume Cogan, Maha S Zaki, Mahmoud Issa, et al.Journal of Medical Genetics|March 11, 2017
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndromeRasim Ozgur Rosti, Bethany N Sotak, Stephanie L Bielas, et al.Nature|April 10, 2024
Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrainChanguk Chung, Xiaoxu Yang, Robert F Hevner, et al.American Journal of Human Genetics|July 24, 2018
Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental SyndromeMartin W Breuss, An Nguyen, Qiong Song, et al.JAMA Network Open|February 9, 2023
Reclassification of the Etiology of Infant Mortality With Whole-Genome SequencingMallory J Owen, Meredith S Wright, Sergey Batalov, et al.Proceedings of the National Academy of Sciences of the United States of America|January 25, 2006
Coupling of cell migration with neurogenesis by proneural bHLH factorsWeihong Ge, Fei He, Kevin J Kim, et al.Cell|August 13, 2021
Developmental and temporal characteristics of clonal sperm mosaicismXiaoxu Yang, Martin W Breuss, Xin Xu, et al.Epilepsia Open|March 7, 2020
mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephalyCamila A B Garcia, Simone C S Carvalho, Xiaoxu Yang, et al.American Journal of Human Genetics|September 13, 2016
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic FeaturesAnide Johansen, Rasim O Rosti, Damir Musaev, et al.Pageof 31