|
| 35136953 | NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold. | Brain | 2022 |
| 35442562 | Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County. | Am J Med Genet A | 2022 |
| 35300601 | Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B. | BMC Cardiovasc Disord | 2022 |
| 34942119 | APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain. | Mol Cell | 2022 |
| 34532947 | Mendelian disease research in the Plain populations of Lancaster County, Pennsylvania. | American Journal of Medical Genetics, Part A | 2021 |
| 34102099 | De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy. | Am J Hum Genet | 2021 |
| 34570759 | A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder. | PLoS Genet | 2021 |
| 32937143 | De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation. | Am J Hum Genet | 2020 |
| 32227164 | RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability. | Brain | 2020 |
| 31553814 | Crigler-Najjar Syndrome Type 1: Pathophysiology, Natural History, and Therapeutic Frontier. | Hepatology | 2020 |
| 33069577 | Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades. | Molecular Genetics and Metabolism | 2020 |
| 30691927 | Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier. | Molecular Genetics and Metabolism | 2019 |
| 30304524 | Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease. | Hum Mol Genet | 2019 |
| 31028937 | Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania. | J Mol Diagn | 2019 |
| 30134351 | Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular Atrophy. | Journal of Pediatric Orthopaedics | 2018 |
| 28726809 | Genomic diagnostics within a medically underserved population: efficacy and implications. | Genet Med | 2018 |
| 30401460 | Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. | Am J Hum Genet | 2018 |
| 30188899 | Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history. | PLoS ONE | 2018 |
| 29198724 | Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions. | Am J Hum Genet | 2017 |
| 29173298 | Management of Congenital Heart Disease Associated with Ellis-van Creveld Short-rib Thoracic Dysplasia. | J Pediatr | 2017 |
| 27773430 | Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. | Am J Hum Genet | 2016 |
| 26974671 | Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency. | PLoS ONE | 2016 |
| 26786177 | Living related versus deceased donor liver transplantation for maple syrup urine disease. | Molecular Genetics and Metabolism | 2016 |
| 25255367 | Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing. | Genet Med | 2015 |
| 25574826 | CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease. | American Journal of Human Genetics | 2015 |
| 25892485 | Fractures on bisphosphonates in osteoporosis pseudoglioma syndrome (OPPG): pQCT shows poor bone density and structure. | | 2015 |
| 26095522 | Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency. | Molecular Genetics and Metabolism | 2015 |
| 26220823 | Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. | Hum Mutat | 2015 |
| 26637978 | Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8. | Am J Hum Genet | 2015 |
| 26070982 | Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. | Brain | 2015 |
| 24613933 | Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood. | Brain | 2014 |
| 23946138 | A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans. | Laryngoscope | 2014 |
| 24986916 | A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder. | Hum Mol Genet | 2014 |
| 23621916 | Intellectual disability associated with a homozygous missense mutation in THOC6. | Orphanet J Rare Dis | 2013 |
| 23830518 | Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. | Am J Hum Genet | 2013 |
| 23401503 | Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup. | Proceedings of the National Academy of Sciences of the United States of America | 2013 |
| 23477994 | Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. | Journal of Pediatrics | 2013 |
| 23065719 | A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder. | Hum Mutat | 2012 |
| 22594747 | One community's effort to control genetic disease. | American Journal of Public Health | 2012 |
| 22279524 | Genetic mapping and exome sequencing identify variants associated with five novel diseases. | PLoS One | 2012 |
| 21815188 | Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: longitudinal risk and disease management. | American Journal of Hematology | 2011 |
| 21474760 | Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. | Science | 2011 |
| 21236492 | A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. | Ophthalmology | 2011 |
| 21402907 | Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke. | Proceedings of the National Academy of Sciences of the United States of America | 2011 |
| 21820344 | Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx. | Molecular Genetics and Metabolism | 2011 |
| 20018682 | Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation. | Proceedings of the National Academy of Sciences of the United States of America | 2010 |
| 21070897 | Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. | Am J Hum Genet | 2010 |
| 20618352 | A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders. | Clin Genet | 2010 |
| 20170897 | Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease. | Am J Hum Genet | 2010 |
| 20503307 | A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population. | Am J Med Genet A | 2010 |