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Amanda Thomas-Wilson, PhD, FACMG Director, Molecular Diagnostics New York Genome Center
Specialty/Interests: Genome Sequencing, Biochemical Genetics, Newborn Screening, Newborn Sequencing, Prenatal Genetics, Molecular Diagnostics for Undiagnosed Disease
with specific interest in pediatric, neonatal, and prenatal genetics
Dr. Thomas-Wilson is a laboratory geneticist with Board Certification in both Clinical Biochemical Genetics and Laboratory Genetics and Genomics. She specializes in genome
sequencing for diagnosis in prenatal and pediatric settings, biochemical genetics, and rapid genome sequencing, and has specific interests in newborn screening and newborn
sequencing. Dr. Thomas-Wilson is also actively involved in the Clinical Genome Resource (ClinGen) where she serves as co-chair of the Cerebral Creatine Deficiencies Variant
Expert Curation Panel, chair of the Urea Cycle Disorders Variant Curation Expert Panel, and as a biocurator for the Prenatal Gene Curation Expert Panel; and is currently serving as a
member of the ACMG Therapeutics Committee.
with specific interest in pediatric, neonatal, and prenatal genetics
Dr. Thomas-Wilson is a laboratory geneticist with Board Certification in both Clinical Biochemical Genetics and Laboratory Genetics and Genomics. She specializes in genome
sequencing for diagnosis in prenatal and pediatric settings, biochemical genetics, and rapid genome sequencing, and has specific interests in newborn screening and newborn
sequencing. Dr. Thomas-Wilson is also actively involved in the Clinical Genome Resource (ClinGen) where she serves as co-chair of the Cerebral Creatine Deficiencies Variant
Expert Curation Panel, chair of the Urea Cycle Disorders Variant Curation Expert Panel, and as a biocurator for the Prenatal Gene Curation Expert Panel; and is currently serving as a
member of the ACMG Therapeutics Committee.