Author details

Full Name

Olivia Wenger

Affiliation

ORCID

Career Start Year

2011

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37437211	Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.	Brain	2023
35027574	Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).	NPJ Genom Med	2022
36101819	Glycogen storage disease type 1a in the Ohio Amish.	JIMD Reports	2022
36074124	Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.	Genet Med	2022
36393899	Natural history of propionic acidemia in the Amish population.	Molecular Genetics and Metabolism Reports	2022
34906488	Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.	Genet Med	2022
34415310	Biallelic PI4KA variants cause neurological, intestinal and immunological disease.	Brain	2021
33478791	Vaccination patterns of the northeast Ohio Amish revisited.	Vaccine	2021
34007002	Severity modeling of propionic acidemia using clinical and laboratory biomarkers.	Genet Med	2021
34570759	A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.	PLoS Genet	2021
33127324	Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606AÂ >Â G (p.Asn536Asp) variant propionic acidemia.	Mol Genet Metab	2020
31903518	Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia.	Journal of Clinical Immunology	2020
31192531	Delineating the expanding phenotype associated with SCAPER gene mutation.	Am J Med Genet A	2019
30304524	Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.	Hum Mol Genet	2019
30158690	Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.	Genet Med	2019
30622327	An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia.	Eur J Hum Genet	2019
30691927	Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.	Molecular Genetics and Metabolism	2019
28302434	Evaluation of low immunization coverage among the Amish population in rural Ohio.	American Journal of Infection Control	2017
26070982	Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.	Brain	2015
21708796	Underimmunization in Ohio's Amish: parental fears are a greater obstacle than access to care.	Pediatrics	2011