Charles A Williams

Charles A Williams, M.D.

Professor Emeritus

Department: Pediatric Genetics and Metabolism
Business Phone: (352) 294-5051
Business Email: willicx@peds.ufl.edu

About Charles A Williams

Dr. Charles Williams is a Professor Emeritus in the Department of Pediatrics, Division of Genetics and Metabolism. He is board-certified in Medical Genetics and in Pediatrics and received his M.D. degree and his clinical genetics training at the University of Florida. From 1986 until 2000, he served as Chief of the Division of Genetics. The majority of his academic assignment involved evaluating families in the division’s clinics that are held in Gainesville and throughout central and north Florida. He also provided consultation to the Florida School for the Deaf and Blind in St. Augustine.

Dr. Williams has published widely in scholarly journals. He has a long-term research and advocacy interest in Angelman syndrome and was instrumental in founding the U.S. Angelman Syndrome Foundation (ASF) where he currently serves as member its Scientific Advisory Committee.

Accomplishments

The Harry and Audrey Angelman Award for Meritorious Service (first recipient)
2001 · U.S. Angelman Syndrome Foundation

Board Certifications

  • Medical Genetics; Clinical Genetics, Certificate #1912, October 15, 1984. Lifetime certification.
    American Board of Medical Genetics
  • Pediatrics, Certificate #27611, May 17, 1982. Lifetime certification.
    American Board of Pediatrics

Clinical Profile

Specialties
  • Pediatrics
Areas of Interest
  • Angelman syndrome
  • Ectodermal dysplasias
  • Genetics
  • Hearing loss
  • Hereditary urea cycle abnormality
  • Intellectual disability
  • Metabolic neuropathies
  • Metabolism
  • Neurofibromatosis-1
  • Seizures
  • Vision problems
  • White matter of the brain

Publications

2019
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus.
Genetics in medicine : official journal of the American College of Medical Genetics. 21(8):1808-1820 [DOI] 10.1038/s41436-018-0416-7. [PMID] 30635621.
2018
TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.
Skeletal muscle. 8(1) [DOI] 10.1186/s13395-018-0163-0. [PMID] 29855340.
2017
Like Father, Like Daughter-inherited cutis aplasia occurring in a family with Marfan syndrome: a case report.
Clinical case reports. 5(1):66-68 [DOI] 10.1002/ccr3.750. [PMID] 28096993.
2017
Non-accidental Trauma Work-up: Unusual Retinal Finding Leads to a Rare Diagnosis.
Pediatric emergency care. 33(9):e52-e54 [DOI] 10.1097/PEC.0000000000000584. [PMID] 26569076.
2016
Angelman syndrome – insights into a rare neurogenetic disorder.
Nature reviews. Neurology. 12(10):584-93 [DOI] 10.1038/nrneurol.2016.133. [PMID] 27615419.
2015
Clinical utility gene card for: Angelman Syndrome.
European journal of human genetics : EJHG. 23(2) [DOI] 10.1038/ejhg.2014.93. [PMID] 24896151.
2015
Goldenhar Syndrome Associated with Extensive Arterial Malformations.
Case reports in pediatrics. 2015 [DOI] 10.1155/2015/954628. [PMID] 26688769.
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.
Human mutation. 36(11):1052-63 [DOI] 10.1002/humu.22832. [PMID] 26178382.
2015
Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect.
American journal of medical genetics. Part A. 167(7):1565-9 [DOI] 10.1002/ajmg.a.37058. [PMID] 25899869.
2015
Optic nerve pilomyxoid astrocytoma in a patient with Noonan syndrome.
Pediatric blood & cancer. 62(6):1084-6 [DOI] 10.1002/pbc.25382. [PMID] 25585602.
2014
A mimic of self-healing juvenile cutaneous mucinosis?
Pediatric dermatology. 31(6):e140-4 [DOI] 10.1111/pde.12426. [PMID] 25233809.
2014
If not Angelman, what is it? A review of Angelman-like syndromes.
American journal of medical genetics. Part A. 164A(4):975-92 [PMID] 24779060.
View on: PubMed
2013
Molecular biology of epilepsy genes.
Experimental neurology. 244:51-8 [DOI] 10.1016/j.expneurol.2011.12.001. [PMID] 22178301.
2013
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.
Neurogenetics. 14(1):11-22 [DOI] 10.1007/s10048-012-0349-2. [PMID] 23334463.
2012
Neonatal diabetes mellitus and congenital diaphragmatic hernia: coincidence or concurrent etiology?
International journal of pediatric endocrinology. 2012(1) [DOI] 10.1186/1687-9856-2012-21. [PMID] 22781086.
2012
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
European journal of human genetics : EJHG. 20(12):1240-7 [DOI] 10.1038/ejhg.2012.95. [PMID] 22617343.
2012
The importance of developing novel diagnostic tools for congenital metabolic disorders.
Journal of pediatric genetics. 1(3):149-51 [DOI] 10.3233/PGE-2012-024. [PMID] 27625816.
2011
A copy number variation morbidity map of developmental delay.
Nature genetics. 43(9):838-46 [DOI] 10.1038/ng.909. [PMID] 21841781.
2011
Angelman syndrome: advancing the research frontier of neurodevelopmental disorders.
Journal of neurodevelopmental disorders. 3(1):50-6 [DOI] 10.1007/s11689-010-9066-z. [PMID] 21484597.
2011
Assessment of 2Q23.1 Microdeletion Syndrome Implicates Mbd5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder
. 89:551-563
2011
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
American journal of human genetics. 89(4):551-63 [DOI] 10.1016/j.ajhg.2011.09.011. [PMID] 21981781.
2011
Facial dysmorphism and digit anomalies in three siblings with severe developmental delay.
Clinical dysmorphology. 20(2):92-94 [DOI] 10.1097/MCD.0b013e3283435174. [PMID] 21383553.
2011
Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome.
American journal of medical genetics. Part A. 155A(7):1685-9 [DOI] 10.1002/ajmg.a.34055. [PMID] 21671383.
2011
The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease.
The British journal of ophthalmology. 95(4):574-9 [DOI] 10.1136/bjo.2010.190116. [PMID] 21097938.
2010
Angelman syndrome at the synapse: meeting report of the Angelman Syndrome Foundation’s 2009 scientific symposium.
Journal of child neurology. 25(2):254-61 [DOI] 10.1177/0883073809353450. [PMID] 20101047.
2010
Clinical and genetic aspects of Angelman syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics. 12(7):385-95 [DOI] 10.1097/GIM.0b013e3181def138. [PMID] 20445456.
2010
Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.
European journal of human genetics : EJHG. 18(4):436-41 [DOI] 10.1038/ejhg.2009.199. [PMID] 19904302.
2010
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
American journal of medical genetics. Part A. 152A(2):333-9 [DOI] 10.1002/ajmg.a.33206. [PMID] 20101697.
2010
Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.
American journal of human genetics. 87(6):857-65 [DOI] 10.1016/j.ajhg.2010.10.019. [PMID] 21109226.
2010
The behavioral phenotype of the Angelman syndrome.
American journal of medical genetics. Part C, Seminars in medical genetics. 154C(4):432-7 [DOI] 10.1002/ajmg.c.30278. [PMID] 20981772.
2009
Angelman syndrome scientific symposium on the structure and function of UBE3A/E6AP.
Journal of child neurology. 24(7):904-8 [DOI] 10.1177/0883073809332767. [PMID] 19617463.
2009
Language features in a mother and daughter of a chromosome 7;13 translocation involving FOXP2.
Journal of speech, language, and hearing research : JSLHR. 52(5):1157-74 [DOI] 10.1044/1092-4388(2009/07-0162). [PMID] 19797137.
2008
A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor development.
American journal of medical genetics. Part A. 146A(2):204-7 [PMID] 18076119.
View on: PubMed
2008
Filippi syndrome: further clinical characterization.
American journal of medical genetics. Part A. 146A(14):1848-52 [DOI] 10.1002/ajmg.a.32400. [PMID] 18553552.
2008
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
Pediatrics. 121(2):404-10 [DOI] 10.1542/peds.2007-0929. [PMID] 18245432.
2008
Genetic disorders associated with macrocephaly.
American journal of medical genetics. Part A. 146A(15):2023-37 [DOI] 10.1002/ajmg.a.32434. [PMID] 18629877.
2006
Angelman syndrome 2005: updated consensus for diagnostic criteria.
American journal of medical genetics. Part A. 140(5):413-8 [PMID] 16470747.
View on: PubMed
2006
Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.
Pediatrics. 118(6):e1687-95 [PMID] 17088400.
View on: PubMed
2006
Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2.
Journal of speech, language, and hearing research : JSLHR. 49(3):500-25 [PMID] 16787893.
View on: PubMed
2005
Ascertainment of gastroschisis using the ICD-9-CM surgical procedure code.
Birth defects research. Part A, Clinical and molecular teratology. 73(10):646-8 [PMID] 16240375.
View on: PubMed
2005
Neurological aspects of the Angelman syndrome.
Brain & development. 27(2):88-94 [PMID] 15668046.
View on: PubMed
2004
A molecular diagnosis of hyperparathyroidism-jaw tumor syndrome in an adolescent with recurrent kidney stones.
The Journal of pediatrics. 145(4) [PMID] 15480389.
View on: PubMed
2004
Blood lymphocyte chimerism associated with IVF and monochorionic dizygous twinning: case report.
Human reproduction (Oxford, England). 19(12):2816-21 [PMID] 15375077.
View on: PubMed
2003
Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders.
American journal of medical genetics. Part A. 117A(2):105-11 [PMID] 12567405.
View on: PubMed
2003
Treatment of oralfacial clefts by state-affiliated craniofacial centers and cleft palate clinics.
Birth defects research. Part A, Clinical and molecular teratology. 67(9):643-6 [PMID] 14703787.
View on: PubMed
2001
Angelman syndrome: mimicking conditions and phenotypes.
American journal of medical genetics. 101(1):59-64 [PMID] 11343340.
View on: PubMed
1998
Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency.
American journal of medical genetics. 77(1):8-11 [PMID] 9557885.
View on: PubMed

Grants

Sep 2002 ACTIVE
92050504
Role: Project Manager
Funding: HAYWARD FOU, JOHN & WINIFRED

Education

Residency – Pediatrics, PL2 and PL3
1976-1978 · University of Florida College of Medicine, Gainesville, FL
Internship – Pediatrics, PL-1
1975-1976 · Medical University of South Carolina
M. D.
1971-1975 · University of Florida College of Medicine, Gainesville, FL
B.S.
1966-1970 · University of South Florida, Tampa

Contact Details

Phones:
Business:
(352) 294-5051
Emails: