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Clinical Genetics|November 10, 2022
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing dataTaila Hartley, Élisabeth Soubry, Meryl Acker, et al.
Orphanet Journal of Rare Diseases|April 30, 2013
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAPSarah M Nikkel, Andrew Dauber, Sonja de Munnik, et al.
American Journal of Human Genetics|April 17, 2018
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital AnomaliesHanyin Cheng, Avinash V Dharmadhikari, Sylvia Varland, et al.
Nature Cell Biology|July 14, 2015
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genesGabrielle Wheway, Miriam Schmidts, Dorus A Mans, et al.
American Journal of Medical Genetics. Part A|October 24, 2020
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndromeDavid A Dyment, Anne O'Donnell-Luria, Pankaj B Agrawal, et al.
American Journal of Human Genetics|February 17, 2021
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in femalesFrancesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, et al.
The Journal of Clinical Investigation|November 14, 2023
Spliceosome malfunction causes neurodevelopmental disorders with overlapping featuresDong Li, Qin Wang, Allan Bayat, et al.
Genome Biology|March 27, 2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY ChallengeCatherine A Brownstein, Alan H Beggs, Nils Homer, et al.
Nature Genetics|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, Benjamin Cogne, Amandine Santini, et al.
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