Last Updated: 09/26/2026
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Found 42 publications
Optical genome mapping improves clinical interpretation of constitutional copy-number gains and reduces their VUS burden.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 28, 2024
Genomic architecture of autism from comprehensive whole-genome sequence annotation.
Journal: Cell
Published: May 05, 2022
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.
Journal: Nature communications
Published: November 01, 2021
A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features.
Journal: Scientific reports
Published: January 28, 2020
Genome-wide detection of tandem DNA repeats that are expanded in autism.
Journal: Nature
Published: November 16, 2019
Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four-generation Canadian family.
Journal: Molecular genetics & genomic medicine
Published: October 15, 2019
Familial Intracranial Aneurysm in Newfoundland: Clinical and Genetic Analysis.
Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
Published: August 09, 2019
Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees.
Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees.
Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
Published: May 10, 2019
A large data resource of genomic copy number variation across neurodevelopmental disorders.
Journal: NPJ genomic medicine
Published: May 06, 2019
Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss.
Journal: BMC medical genetics
Published: October 13, 2018
Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach.
Journal: Dialogues in clinical neuroscience
Published: February 06, 2018
Last Updated: 09/26/2026