Last Updated: 09/26/2026
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Found 35 publications
Universal Presence of Gene/Variant Nomenclature Errors in Journal Manuscript Submissions.
Journal: Clinical chemistry
Published: October 07, 2025
Predicting subtypes of glycogen storage disease type IV: Challenges of hepatic subtypes and genotype-phenotype correlation.
Journal: Molecular genetics and metabolism
Published: August 14, 2025
Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.
Journal: The Journal of clinical investigation
Published: July 23, 2025
Novel Intragenic Duplication of GATAD2B in a Patient With GAND.
Journal: American journal of medical genetics. Part A
Published: February 18, 2025
FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature.
Journal: American journal of human genetics
Published: October 08, 2024
Promises and challenges of genomic newborn screening (NBS) - lessons from public health NBS programs.
Journal: Pediatric research
Published: April 30, 2024
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
Journal: The Journal of clinical investigation
Published: April 26, 2024
Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.
Journal: Journal of inherited metabolic disease
Published: August 06, 2023
Perinatal-lethal nonimmune fetal hydrops attributed to MECOM-associated bone marrow failure.
Journal: Cold Spring Harbor molecular case studies
Published: April 10, 2023
The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 26, 2023
Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome.
Journal: European journal of medical genetics
Published: November 03, 2022
Last Updated: 09/26/2026