Last Updated: 09/26/2026
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Found 17 publications
Two for One: Recurrent Symptoms, Delayed Diagnosis.
Journal: Clinical pediatrics
Published: March 17, 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
Development and assessment of educational materials for spinal muscular atrophy carrier screening in the Plain community.
Journal: Journal of genetic counseling
Published: June 23, 2023
Telemedicine in the Amish and Mennonite communities of Wisconsin.
Journal: Journal of community genetics
Published: May 13, 2022
Cross-sectional survey on genetic testing utilization and perceptions in Wisconsin Amish and Mennonite communities.
Journal: Journal of community genetics
Published: February 10, 2022
Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B.
Journal: BMC cardiovascular disorders
Published: November 03, 2021
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).
Journal: NPJ genomic medicine
Published: July 02, 2021
Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.
Journal: Molecular genetics and metabolism
Published: July 27, 2020
No association between SCN9A and monogenic human epilepsy disorders.
Journal: PLoS genetics
Published: July 10, 2020
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.
Journal: Brain : a journal of neurology
Published: April 01, 2020
Neonatal Metabolic Crises: A Practical Approach.
Journal: Clinics in perinatology
Published: February 01, 2020
Last Updated: 09/26/2026