Last Updated: 09/26/2026
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Found 23 publications
Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant.
Journal: Journal of child neurology
Published: April 06, 2022
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.
Journal: Nature genetics
Published: December 07, 2021
Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 04, 2021
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 26, 2021
ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 26, 2021
CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.
Journal: European journal of medical genetics
Published: October 20, 2018
Testing genetic modifiers of behavior and response to atomoxetine in autism spectrum disorder with ADHD.
Journal: Journal of developmental and physical disabilities
Published: September 11, 2018
Language Regression in an Atypical SLC6A1 Mutation.
Journal: Seminars in pediatric neurology
Published: July 03, 2018
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.
Journal: Human mutation
Published: February 15, 2018
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.
Journal: Cell
Published: March 25, 2017
A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.
Journal: Journal of medical genetics
Published: December 01, 2016
Last Updated: 09/26/2026