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Publications

Propionic Acidemia diagnosed in Amish adults and pregnancy outcomes: A case series

Models of KPTN-related disorder implicate mTOR signaling in cognitive and overgrowth phenotypes.

Natural History of Propionic Acidemia in the Amish population.

A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.

Glycogen storage disease type 1a in the Ohio Amish.

Vaccination patterns of the northeast Ohio Amish revisited.

Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia.

Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia.

Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.

Underimmunization in Ohio’s Amish: parental fears are a greater obstacle than access to care.

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