Last Updated: 09/26/2026
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Found 33 publications
Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency.
Journal: American journal of medical genetics. Part A
Published: November 23, 2025
Two commonly reported incidental variants in OTC are associated with late-onset disease.
Journal: HGG advances
Published: May 19, 2025
Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism.
Journal: American journal of medical genetics. Part A
Published: April 01, 2025
Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions.
Journal: medRxiv : the preprint server for health sciences
Published: May 07, 2024
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps.
Journal: Genome research
Published: March 15, 2024
Generation of a humanized mAce2 and a conditional hACE2 mouse models permissive to SARS-COV-2 infection.
Journal: Mammalian genome : official journal of the International Mammalian Genome Society
Published: September 25, 2023
Barriers to a successful healthcare transition for individuals with urea cycle disorders.
Journal: Molecular genetics and metabolism
Published: April 03, 2023
The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect.
Journal: The Journal of clinical investigation
Published: March 08, 2023
Delayed skeletal development and IGF-1 deficiency in a mouse model of lysinuric protein intolerance.
Delayed skeletal development and IGF-1 deficiency in a mouse model of lysinuric protein intolerance.
Journal: Disease models & mechanisms
Published: February 07, 2023
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.
Journal: Nature genetics
Published: September 06, 2022
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 23, 2021
Last Updated: 09/26/2026