Last Updated: 09/26/2026
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Found 54 publications
Impacts of genetic counseling on hypophosphatasia heterozygotes identified through carrier screening.
Journal: Journal of genetic counseling
Published: July 10, 2025
Pancreatitis Is an Emerging Rare Complication of Classic Homocystinuria: A Case Series and Literature Review.
Journal: American journal of medical genetics. Part A
Published: May 02, 2025
Longitudinal multi-omics reveals pathogenic TSC2 variants disrupt developmental trajectories of human cortical organoids derived from Tuberous Sclerosis Complex.
Journal: bioRxiv : the preprint server for biology
Published: October 17, 2024
Musculoskeletal phenotypes in 3q29 deletion syndrome.
Journal: medRxiv : the preprint server for health sciences
Published: April 17, 2023
Musculoskeletal phenotypes in 3q29 deletion syndrome.
Journal: American journal of medical genetics. Part A
Published: April 03, 2023
Acute myeloid leukemia and dilated cardiomyopathy in a pediatric patient with D-2-hydroxyglutaric aciduria type I.
Journal: American journal of medical genetics. Part A
Published: March 07, 2022
Elevated homocysteine levels: What inborn errors of metabolism might we be missing?
Journal: American journal of medical genetics. Part A
Published: February 04, 2022
Heterogeneous Pulmonary Phenotypes in Filamin A Mutation-Related Lung Disease.
Journal: Pediatric allergy, immunology, and pulmonology
Published: March 18, 2021
Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.
Journal: American journal of medical genetics. Part A
Published: December 14, 2020
Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 27, 2020
Craniofacial features of 3q29 deletion syndrome: Application of next-generation phenotyping technology.
Journal: American journal of medical genetics. Part A
Published: September 21, 2020
Ornithine decarboxylase, the rate-limiting enzyme of polyamine synthesis, modifies brain pathology in a mouse model of tuberous sclerosis complex.
Journal: Human molecular genetics
Published: May 18, 2020
Last Updated: 09/26/2026