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Journal of Medical Genetics|July 24, 2017
FOXP1-related intellectual disability syndrome: a recognisable entityIlse Meerschaut, Daniel Rochefort, Nicole Revençu, et al.Clinical Genetics|August 19, 2015
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in careS L Sawyer, T Hartley, D A Dyment, et al.Neuron|October 22, 2013
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathyElizabeth K Ruzzo, José-Mario Capo-Chichi, Bruria Ben-Zeev, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2023
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor betaVéronique Caron, Nicolas Chassaing, Nicola Ragge, et al.Neurology|May 11, 2016
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathyJohannes R Lemke, Kirsten Geider, Katherine L Helbig, et al.Nature Genetics|March 30, 2024
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsyDarcy L Fehlings, Mehdi Zarrei, Worrawat Engchuan, et al.American Journal of Human Genetics|April 30, 2019
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human NeuronsScott Bell, Justine Rousseau, Huashan Peng, et al.Journal of Medical Genetics|December 21, 2021
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disabilityAudrey Schalk, Margot A Cousin, Nikita R Dsouza, et al.American Journal of Human Genetics|October 17, 2024
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathwayMaolei Gong, Jiayi Li, Zailong Qin, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 13, 2018
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patientsCyril Mignot, Aoife C McMahon, Claire Bar, et al.Pageof 50