J. Phillips

发表

Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study

W. S. Denney, J. Vockley, S. Sacharow, 2021, Nature Metabolism.

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

Matthew H. Brush, Mercedes E. Alejandro, Gabriel F. Batzli, 2019, Clinical imaging.

Effects of triheptanoin (UX007) in patients with long‐chain fatty acid oxidation disorders: Results from an open‐label, long‐term extension study

J. Vockley, B. Burton, N. Longo, 2020, Journal of inherited metabolic disease.

Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies

A. Schinzel, E. Weh, L. Reis, 2016, Clinical genetics.

Evidence of feedback regulation of C-type natriuretic peptide during Vosoritide therapy in Achondroplasia

K. Larimore, M. Irving, C. Bacino, 2021, Scientific Reports.

Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies

M. Irving, F. Santos-Simarro, J. Hoover-Fong, 2022, Therapeutic advances in musculoskeletal disease.

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ellen F. Macnamara, M. Westerfield, D. Earl, 2018, American journal of human genetics.

Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing

Jean M. Davidson, Ellen F. Macnamara, Rebecca C. Spillmann, 2019, Journal of genetic counseling.

UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24weeks of treatment.

J. Vockley, B. Burton, N. Longo, 2017, Molecular genetics and metabolism.

Results from a 78‐week, single‐arm, open‐label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long‐chain fatty acid oxidation disorders (LC‐FAOD)

J. Vockley, B. Burton, N. Longo, 2018, Journal of Inherited Metabolic Disease.

Results from a 78-week, single-arm, open-label Phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD)

J. Vockley, B. Burton, N. Longo, 2018, Journal of Inherited Metabolic Disease.

A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria.

S. Stahl, S. Waisbren, B. Burton, 2015, Molecular genetics and metabolism.

Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping

Hyung-Goo Kim, R. Kolhe, L. Layman, 2023, Human Genetics.

Publisher Correction: Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study

W. S. Denney, J. Vockley, S. Sacharow, 2022, Nature Metabolism.

A Case Study of Dysfunctional Nicotinamide Metabolism in a 20-Year-Old Male

Undiagnosed Diseases Network, J. Newman, J. Fessel, 2023, Metabolites.

Triheptanoin for the treatment of long‐chain fatty acid oxidation disorders: Final results of an open‐label, long‐term extension study

J. Vockley, B. Burton, N. Longo, 2023, Journal of inherited metabolic disease.

Efficacy of virtual and asynchronous teaching of computer‐assisted diagnosis of genetic diseases seen in clinics

Mary Grace Hash, J. Phillips, Philip D. Walker, 2021, American journal of medical genetics. Part A.

OP017: Triheptanoin for the treatment of Long-Chain Fatty Acid Disorders (LC-FAOD): Final results of an open-label, long-term extension study

J. Vockley, B. Burton, N. Longo, 2022, Genetics in Medicine.