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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorderChristine Shieh, Natasha Jones, Brigitte Vanle, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2020
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorderChristine Shieh, Natasha Jones, Brigitte Vanle, et al.NPJ Genomic Medicine|June 2, 2017
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric MedicineDimitri J Stavropoulos, Daniele Merico, Rebekah Jobling, et al.The Journal of Clinical Investigation|September 25, 2014
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathyMichaela Yuen, Sarah A Sandaradura, James J Dowling, et al.Nature Genetics|January 17, 2017
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processingRea M Lardelli, Ashleigh E Schaffer, Veerle R C Eggens, et al.American Journal of Human Genetics|February 19, 2019
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia PhenotypesLindsay C Burrage, John J Reynolds, Nissan Vida Baratang, et al.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.Nature Genetics|January 24, 2012
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plusBeverley H Anderson, Paul R Kasher, Josephine Mayer, et al.American Journal of Medical Genetics. Part A|June 28, 2023
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanismsManinder Kaur, Justin Blair, Batsal Devkota, et al.American Journal of Human Genetics|April 28, 2021
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signatureDmitrijs Rots, Eric Chater-Diehl, Alexander J M Dingemans, et al.Pageof 45