Last Updated: 09/26/2026
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Found 15 publications
Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-hydroxylase Deficiency in 457 Individuals.
Journal: The Journal of clinical endocrinology and metabolism
Published: July 08, 2025
Longitudinal Characterization and Sonographic Staging of Testicular Adrenal Rest Tumors.
Journal: The Journal of clinical endocrinology and metabolism
Published: April 03, 2025
Recruitment through empathy and education: The role of the clinical experience on workforce development.
Journal: Molecular genetics and metabolism
Published: December 09, 2024
Correspondence on "The Clinical Geneticist Workforce: Community Forums to Address Challenges and Opportunities" by Chung et al.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 14, 2024
Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera.
Journal: Molecular genetics & genomic medicine
Published: December 15, 2022
PTPN4 germline variants result in aberrant neurodevelopment and growth.
Journal: HGG advances
Published: September 16, 2021
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
Journal: American journal of medical genetics. Part A
Published: April 07, 2021
Never quit on hills: John M. Graham, Jr. MD, ScD, as mentor.
Journal: American journal of medical genetics. Part A
Published: March 18, 2021
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
Journal: Journal of medical genetics
Published: July 22, 2020
Approach to overgrowth syndromes in the genome era.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: October 25, 2019
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
Journal: American journal of medical genetics. Part A
Published: July 19, 2019
PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: April 15, 2019
Last Updated: 09/26/2026