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| 37014712 | Rescue of GM3 synthase deficiency by spatially controlled, rAAV-mediated ST3GAL5 delivery. | | 2023 |
| 37676252 | Neural-specific alterations in glycosphingolipid biosynthesis and cell signaling associated with two human ganglioside GM3 synthase deficiency variants. | Hum Mol Genet | 2023 |
| 37632133 | WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy. | Ann Clin Transl Neurol | 2023 |
| 34940960 | Correction to: Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy. | Drug Saf | 2022 |
| 35715567 | Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial. | Nat Med | 2022 |
| 35715566 | Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial. | Nat Med | 2022 |
| 35442562 | Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County. | Am J Med Genet A | 2022 |
| 35782613 | Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria. | Molecular Genetics and Metabolism Reports | 2022 |
| 35300601 | Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B. | BMC Cardiovasc Disord | 2022 |
| 35274801 | Disease burden and management of Crigler-Najjar syndrome: Report of a world registry. | Liver International | 2022 |
| 34606118 | Nusinersen by subcutaneous intrathecal catheter for symptomatic spinal muscular atrophy patients with complex spine anatomy. | Muscle and Nerve | 2022 |
| 34942119 | APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain. | Mol Cell | 2022 |
| 34471112 | Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder. | Nature Communications | 2021 |
| 34153280 | Metabolic Control and "Ideal" Outcomes in Liver Transplantation for Maple Syrup Urine Disease. | J Pediatr | 2021 |
| 33714697 | AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies. | Trends in Molecular Medicine | 2021 |
| 34339082 | Long-term liver transplant outcomes for progressive familial intrahepatic cholestasis type 1: The Pittsburgh experience. | Pediatr Transplant | 2021 |
| 34383289 | Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy. | Drug Saf | 2021 |
| 31495946 | Disease burden of Crigler-Najjar syndrome: Systematic review and future perspectives. | J Gastroenterol Hepatol | 2020 |
| 31553814 | Crigler-Najjar Syndrome Type 1: Pathophysiology, Natural History, and Therapeutic Frontier. | Hepatology | 2020 |
| 33204356 | Orthopaedic manifestations of glutaric acidemia Type 1. | Journal of Children's Orthopaedics | 2020 |
| 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 |
| 33069577 | Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades. | Molecular Genetics and Metabolism | 2020 |
| 32955727 | Liver transplant for inherited metabolic disease among siblings. | Clin Transplant | 2020 |
| 32937143 | De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation. | Am J Hum Genet | 2020 |
| 31392117 | Domino liver transplantation for select metabolic disorders: Expanding the living donor pool. | JIMD Rep | 2019 |
| 31600826 | Spectrum of K<sub>V</sub> 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders. | Ann Neurol | 2019 |
| 31556146 | Technique and outcome of domino liver transplantation from patients with maple syrup urine disease: Expanding the donor pool for live donor liver transplantation. | Clin Transplant | 2019 |
| 34917767 | Mass spectrometric quantification of plasma glycosphingolipids in human GM3 ganglioside deficiency. | Clinical Mass Spectrometry | 2019 |
| 30304524 | Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease. | Hum Mol Genet | 2019 |
| 31527585 | Clinical and genetic validity of quantitative bipolarity. | Transl Psychiatry | 2019 |
| 30691927 | Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier. | Molecular Genetics and Metabolism | 2019 |
| 29176474 | Hepatic Parenchymal Injury in Crigler-Najjar Type I. | J Pediatr Gastroenterol Nutr | 2018 |
| 28726809 | Genomic diagnostics within a medically underserved population: efficacy and implications. | Genet Med | 2018 |
| 29931346 | TNNT1 nemaline myopathy: natural history and therapeutic frontier. | Human Molecular Genetics | 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 |
| 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 |
| 28126377 | Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia. | Journal of Allergy and Clinical Immunology | 2017 |
| 28571946 | Gangliosides and hearing. | Biochimica et Biophysica Acta - General Subjects | 2017 |
| 29173298 | Management of Congenital Heart Disease Associated with Ellis-van Creveld Short-rib Thoracic Dysplasia. | J Pediatr | 2017 |
| 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 |
| 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 |
| 30713921 | Intraventricular Baclofen for Treatment of Severe Dystonia Associated with Glutaryl-CoA Dehydrogenase Deficiency (GA1): Report of Two Cases. | Movement Disorders Clinical Practice | 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 |
| 26270766 | A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency. | Genetics in Medicine | 2016 |
| 26538488 | Heritability of complex white matter diffusion traits assessed in a population isolate. | Hum Brain Mapp | 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 |
| 25652401 | Ganglioside GM3 is essential for the structural integrity and function of cochlear hair cells. | Human Molecular Genetics | 2015 |