Last Updated: 09/26/2026
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Found 26 publications
Current Status of Genetic Testing and Mosaic Variant Assessment in Somatic Overgrowth and Vascular Anomalies: Insights from the Cancer Genomics Consortium Working Group.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 11, 2026
Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort.
Journal: NPJ genomic medicine
Published: October 24, 2024
Optical genome mapping improves clinical interpretation of constitutional copy-number gains and reduces their VUS burden.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 28, 2024
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.
Journal: medRxiv : the preprint server for health sciences
Published: January 23, 2024
Molecular Genetic Testing Approaches for Retinitis Pigmentosa.
Journal: Methods in molecular biology (Clifton, N.J.)
Published: December 09, 2022
Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl.
Journal: Frontiers in genetics
Published: March 28, 2022
Clinical exome sequencing for inherited retinal degenerations at a tertiary care center.
Journal: Scientific reports
Published: February 16, 2022
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 07, 2022
Whole-exome sequencing detects PYGM variants in two adults with McArdle disease.
Journal: Cold Spring Harbor molecular case studies
Published: December 08, 2021
Causal Genetic Variants in Stillbirth.
Journal: The New England journal of medicine
Published: August 14, 2020
Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency.
Journal: Orphanet journal of rare diseases
Published: June 04, 2020
Last Updated: 09/26/2026