Last Updated: 11/08/2026
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Found 35 publications
Whose Role Is It, Anyway? Ensuring Correct Genomic Variant Nomenclature in Published Literature.
Journal: Clinical chemistry
Published: February 25, 2026
Experiences With Detection of Higher-Copy Sex Chromosome Aneuploidy by cfDNA Screening: The Critical Role of Diagnostic Testing.
Journal: American journal of medical genetics. Part A
Published: June 27, 2025
Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels.
Journal: Genetics in medicine open
Published: October 22, 2024
The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors.
Journal: Genetics in medicine open
Published: August 23, 2024
Leveraging Unique Chromosomal Microarray Probes to Accurately Detect Copy Number at the Highly Homologous 15q15.3 Deafness-Infertility Syndrome Locus.
Journal: Clinical chemistry
Published: December 01, 2022
Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome.
Journal: Ophthalmic genetics
Published: July 14, 2022
Chromosomal microarray analysis in pregnancy loss: Is it time for a consensus approach?
Journal: Prenatal diagnosis
Published: June 13, 2022
Correction to: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 14, 2021
A framework for automated gene selection in genomic applications.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 13, 2021
Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History.
Journal: JAMA network open
Published: April 30, 2020
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.
Journal: Human mutation
Published: January 21, 2020
A Role for Chromosomal Microarray Testing in the Workup of Male Infertility.
Journal: The Journal of molecular diagnostics : JMD
Published: October 04, 2019
Last Updated: 11/08/2026