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Cold Spring Harbor Molecular Case Studies|April 3, 2021
A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathyLauren C Briere, Melissa A Walker, Frances A High, et al.
Genes|January 21, 2022
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical ScoringDóra Nagy, Sarah Verheyen, Kristen M Wigby, et al.
Epilepsia|January 26, 2019
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding regionMcKenna Kelly, Meredith Park, Ivana Mihalek, et al.
Plos Genetics|December 12, 2018
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disordersHongjian Qi, Lan Yu, Xueya Zhou, et al.
American Journal of Human Genetics|July 14, 2023
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signalingManuela Morleo, Rossella Venditti, Evangelos Theodorou, et al.
American Journal of Human Genetics|September 21, 2021
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk geneLu Qiao, Le Xu, Lan Yu, et al.
Journal of Inherited Metabolic Disease|May 27, 2022
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated familiesMythily Ganapathi, Gaelle Friocourt, Naig Gueguen, et al.
American Journal of Human Genetics|September 26, 2023
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defectsFlorence Petit, Mauro Longoni, Julie Wells, et al.
Annals of Neurology|January 14, 2021
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar HypoplasiaLinyan Meng, Pirjo Isohanni, Yunru Shao, et al.
American Journal of Human Genetics|July 22, 2020
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial DysmorphismMaria J Guillen Sacoto, Iva A Tchasovnikarova, Erin Torti, et al.
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