Last Updated: 09/26/2026
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Found 72 publications
Long-term Penetrance of Disease Variants in Genes Prioritized for Genomic Newborn Screening: Evidence from Adult Biobanks.
Journal: medRxiv : the preprint server for health sciences
Published: June 22, 2026
A role for EHMT2 in a novel autosomal recessive neurodevelopmental syndrome? A case report.
Journal: Frontiers in genetics
Published: March 06, 2026
The Need for Clinical Diagnostic Proficiency in the Genomic Era.
Journal: Pediatrics
Published: February 13, 2026
Prenatally Diagnosed Beare-Stevenson Cutis Gyrata Syndrome With a Novel FGFR2 Variant.
Journal: Prenatal diagnosis
Published: December 12, 2025
Novel Features of RASopathies: Liver Disease as an Emerging Phenotype.
Journal: American journal of medical genetics. Part A
Published: October 13, 2025
New genotype-phenotype correlations and management recommendations for individuals with RERE variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 15, 2025
Are Inherited Metabolic Disorders More Common and Less Predictable Than We Thought?
Journal: Journal of inherited metabolic disease
Published: July 14, 2025
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 23, 2025
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 23, 2025
Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay.
Journal: American journal of medical genetics. Part A
Published: April 21, 2025
The ulcerative colitis risk gene adenylyl cyclase 7 restrains the T-helper 2 phenotype and Class II antigen presentation.
Journal: Journal of Crohn's & colitis
Published: February 17, 2025
A New EP300 -Related Syndrome With Prominent Developmental and Immune Phenotypes.
Journal: American journal of medical genetics. Part A
Published: January 24, 2025
Last Updated: 09/26/2026