William G. Wilson

Medical Genetics | Pediatrics

1215 Lee St
Charlottesville, VA 22908

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 23 publications

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: American journal of human genetics

Published: February 15, 2026

Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.

Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.

Journal: Molecular genetics and metabolism

Published: April 04, 2023

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 21, 2022

Highlighting the Dystonic Phenotype Related to GNAO1.

Highlighting the Dystonic Phenotype Related to GNAO1.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: March 17, 2022

Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.

Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.

Journal: Brain : a journal of neurology

Published: December 05, 2021

Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation.

Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation.

Journal: Human genetics

Published: November 02, 2021

Ophthalmic Diagnosis and Novel Management of Infantile Refsum Disease with Combination Docosahexaenoic Acid and Cholic Acid.

Ophthalmic Diagnosis and Novel Management of Infantile Refsum Disease with Combination Docosahexaenoic Acid and Cholic Acid.

Journal: Case reports in ophthalmological medicine

Published: August 13, 2021

BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome.

BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome.

Journal: The Journal of clinical endocrinology and metabolism

Published: May 21, 2021

Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.

Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.

Journal: Annals of neurology

Published: March 09, 2021

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.

Journal: American journal of human genetics

Published: January 20, 2021

Showing 1-12 of 23

Last Updated: 09/26/2026