Last Updated: 09/26/2026
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Found 14 publications
Severe Nonketotic Hyperglycinemia in Twins Caused by GLDC Variants: The Importance of Accurate Prenatal Variant Interpretation, Counseling, and VUS Disclosure.
Journal: Prenatal diagnosis
Published: January 08, 2026
Characterization of a PNLIP variant identified in Amish pediatric patients with congenital pancreatic lipase deficiency.
Journal: Journal of lipid research
Published: February 12, 2025
Lessons learned from 5 years of pegvaliase in US clinics: A case series.
Journal: Molecular genetics and metabolism reports
Published: October 31, 2024
Natural history of propionic acidemia in the Amish population.
Journal: Molecular genetics and metabolism reports
Published: July 13, 2022
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.
Journal: Nature communications
Published: November 11, 2021
A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.
Journal: PLoS genetics
Published: June 14, 2021
Diagnostic challenges and disease management in patients with a mild Zellweger spectrum disorder phenotype.
Journal: Molecular genetics and metabolism
Published: April 20, 2021
Cholbam® and Zellweger spectrum disorders: treatment implementation and management.
Journal: Orphanet journal of rare diseases
Published: March 17, 2021
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.
Journal: Brain : a journal of neurology
Published: April 01, 2020
Rapid quantification of underivatized alloisoleucine and argininosuccinate using mixed-mode chromatography with tandem mass spectrometry.
Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
Published: June 25, 2019
Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.
Journal: Molecular genetics and metabolism
Published: December 14, 2018
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.
Journal: American journal of human genetics
Published: June 19, 2018
Last Updated: 09/26/2026