Charles A. Williams

Medical Genetics | Pediatrics

1600 Sw Archer Rd
Gainesville, FL 32610

Last Updated: 09/26/2026

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Found 19 publications

Hemizygous contiguous gene deletion within Xq28 that includes BCAP31, ABCD1, SRPK3 and SSR4: case report and literature review.

Hemizygous contiguous gene deletion within Xq28 that includes BCAP31, ABCD1, SRPK3 and SSR4: case report and literature review.

Journal: Global medical genetics

Published: June 10, 2025

Case Report: Alpha6 Integrin Disorder Presenting in Childhood with Nail Dysplasia and Onycholysis But No History of Fragile or Bullous Skin Changes.

Case Report: Alpha6 Integrin Disorder Presenting in Childhood with Nail Dysplasia and Onycholysis But No History of Fragile or Bullous Skin Changes.

Journal: Global medical genetics

Published: November 25, 2024

Identification of the novel HLA-B*57:168 allele by next generation sequencing.

Identification of the novel HLA-B*57:168 allele by next generation sequencing.

Journal: HLA

Published: November 14, 2023

Identification of the novel HLA-C*03:648 allele by next generation sequencing.

Identification of the novel HLA-C*03:648 allele by next generation sequencing.

Journal: HLA

Published: November 13, 2023

A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.

A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.

Journal: Molecular genetics & genomic medicine

Published: July 12, 2021

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus.

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus.

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

Published: August 09, 2018

TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.

TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.

Journal: Skeletal muscle

Published: February 22, 2018

Angelman syndrome - insights into a rare neurogenetic disorder.

Angelman syndrome - insights into a rare neurogenetic disorder.

Journal: Nature reviews. Neurology

Published: September 13, 2016

Goldenhar Syndrome Associated with Extensive Arterial Malformations.

Goldenhar Syndrome Associated with Extensive Arterial Malformations.

Journal: Case reports in pediatrics

Published: August 05, 2015

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Journal: Human mutation

Published: March 20, 2015

Optic nerve pilomyxoid astrocytoma in a patient with Noonan syndrome.

Optic nerve pilomyxoid astrocytoma in a patient with Noonan syndrome.

Journal: Pediatric blood & cancer

Published: September 23, 2014

A mimic of self-healing juvenile cutaneous mucinosis?

A mimic of self-healing juvenile cutaneous mucinosis?

Journal: Pediatric dermatology

Published: September 20, 2014

Showing 1-12 of 19

Last Updated: 09/26/2026