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Plos One|September 7, 2018
Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural historyVincent J Carson, Erik G Puffenberger, Lauren E Bowser, et al.Plos One|March 15, 2016
Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) DeficiencyAntje Motzek, Jelena Knežević, Olivier J Switzeny, et al.Molecular Genetics and Metabolism|August 9, 2011
Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influxKevin A Strauss, Joan Brumbaugh, Alana Duffy, et al.The Journal of Pediatrics|November 28, 2017
Management of Congenital Heart Disease Associated with Ellis-van Creveld Short-rib Thoracic DysplasiaDevyani Chowdhury, Katie B Williams, Aaron Chidekel, et al.BMC Genomics|October 4, 2005
Identification of disease causing loci using an array-based genotyping approach on pooled DNADavid W Craig, Matthew J Huentelman, Diane Hu-Lince, et al.BMC Cardiovascular Disorders|March 18, 2022
Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein BKatie B Williams, Michael Horst, Millie Young, et al.Journal of Pediatric Orthopedics|August 23, 2018
Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular AtrophyKevin A Strauss, Vincent J Carson, Karlla W Brigatti, et al.American Journal of Hematology|August 5, 2011
Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: longitudinal risk and disease managementNicholas L Rider, Kevin A Strauss, Krysta Brown, et al.Molecular Genetics and Metabolism|April 6, 2007
Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiencyKevin A Strauss, D Holmes Morton, Erik G Puffenberger, et al.American Journal of Human Genetics|November 13, 2010
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosaAnjali M Rajadhyaksha, Olivier Elemento, Erik G Puffenberger, et al.Pageof 7