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American Journal of Human Genetics|September 3, 2019
Redefining the Etiologic Landscape of Cerebellar MalformationsKimberly A Aldinger, Andrew E Timms, Zachary Thomson, et al.
American Journal of Human Genetics|July 31, 2018
Mutations in TOP3A Cause a Bloom Syndrome-like DisorderCarol-Anne Martin, Kata Sarlós, Clare V Logan, et al.
American Journal of Human Genetics|October 6, 2018
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan GlycosylationCarlos R Ferreira, Zhi-Jie Xia, Aurélie Clément, et al.
American Journal of Human Genetics|April 17, 2018
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar AtaxiaClaire Guissart, Xenia Latypova, Paul Rollier, et al.
American Journal of Human Genetics|January 31, 2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental DisorderSébastien Küry, Thomas Besnard, Frédéric Ebstein, et al.
Brain : a Journal of Neurology|January 23, 2019
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insightsDevon L Johnstone, Hilal H Al-Shekaili, Maja Tarailo-Graovac, et al.
American Journal of Human Genetics|April 17, 2018
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar DysgenesisHeather E Olson, Nolwenn Jean-Marçais, Edward Yang, et al.
American Journal of Human Genetics|June 20, 2020
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental DelayLisenka E L M Vissers, Sreehari Kalvakuri, Elke de Boer, et al.
American Journal of Human Genetics|August 23, 2016
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability SyndromeJung-Hyun Kim, Deepali N Shinde, Margot R F Reijnders, et al.
American Journal of Human Genetics|August 4, 2015
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt SignalingLot Snijders Blok, Erik Madsen, Jane Juusola, et al.
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