Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.

Autor: Priestley JRC; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA., Deshwar AR; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., Murthy H; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., D'Agostino MD; Division of Medical Genetics, Departments of Specialized Medicine and Human Genetics, McGill University Health Center, Montreal, QC, Canada., Dupuis L; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada., Gangaram B; Division of Medical Genetics, University of California San Francisco, San Francisco, CA., Gray C; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA., Jobling R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada., Pannia E; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Prescott K; Clinical Genetics, The Leeds Teaching Hospital NHS Trust, Leeds, West Yorkshire, United Kingdom., Redman M; Clinical Genetics, The Leeds Teaching Hospital NHS Trust, Leeds, West Yorkshire, United Kingdom., Rippert AL; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics Laboratories, Houston, TX., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX., Wang YW; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada; Division of Medical Genetics, Departments of Specialized Medicine and Human Genetics, McGill University Health Center, Montreal, QC, Canada., Schmederer Z; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany; Medizinisch Genetisches Zentrum, Munich, Germany., Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India., Sarma AS; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India., Skraban C; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Dowling JJ; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada; Division of Neurology, The Hospital for Sick Children, Toronto, ON, Canada., Mendoza-Londono R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada., Slavotinek A; Division of Medical Genetics, University of California San Francisco, San Francisco, CA; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital, Cincinnati, OH., Bhoj EJ; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. Electronic address: bhoje@chop.edu.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Aug; Vol. 25 (8), pp. 100863. Date of Electronic Publication: 2023 Apr 28.

Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.

Autor: Priestley JRC; Section of Biochemical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Pace LM; Department of Pediatrics, University of Florida College of Medicine, Jacksonville, FL, USA., Sen K; Division of Neurogenetics and Neurodevelopmental Pediatrics, Children's National Hospital, Washington D.C., USA., Aggarwal A; Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA., Alves CAPF; Division of Neuroradiology, Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, USA., Campbell IM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Cuddapah SR; Section of Biochemical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Engelhardt NM; Section of Biochemical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Mitochondrial Medicine, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Eskandar M; Division of Child Neurology, Children's National Hospital, Washington D.C., USA., Jolín García PC; Section of Biochemical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Gropman A; Division of Neurogenetics and Neurodevelopmental Pediatrics, Children's National Hospital, Washington D.C., USA., Helbig I; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Epilepsy Neurogenetics Initiative, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Hong X; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Lusk L; Epilepsy Neurogenetics Initiative, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Trapane P; Division of Pediatric Genetics, Department of Genetics, University of Florida College of Medicine, Jacksonville, FL, USA.; UF Health Precision Medicine Program, University of Florida Health System, Jacksonville, FL, USA., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Suwannarat P; Genetics, Kaiser Permanente MidAtlantic, Rockville, MD, USA., Ganetzky RD; Section of Biochemical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Mitochondrial Medicine, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2022 Nov 16; Vol. 33, pp. 100931. Date of Electronic Publication: 2022 Nov 16 (Print Publication: 2022).

Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania.

Autor: Priestley JRC; Section of Biochemical Genetics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Adang LA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Drewes Williams S; Division of Genetic and Genomic Medicine, University of Pittsburgh Medical Center Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA., Lichter-Konecki U; Division of Genetic and Genomic Medicine, University of Pittsburgh Medical Center Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA., Menello C; Section of Biochemical Genetics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Engelhardt NM; Section of Biochemical Genetics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., DiPerna JC; PerkinElmer, Mass Spectroscopy Unit, Pittsburgh, PA 15275, USA., DiBoscio B; Section of Biochemical Genetics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Ahrens-Nicklas RC; Section of Biochemical Genetics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Edmondson AC; Section of Biochemical Genetics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Reynoso Santos FJ; Section of Biochemical Genetics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Ficicioglu C; Section of Biochemical Genetics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

Publikováno v: International journal of neonatal screening [Int J Neonatal Screen] 2022 Mar 23; Vol. 8 (2). Date of Electronic Publication: 2022 Mar 23.

Mitochondrial Hepatopathies.

Autor: Alharbi H; Division of Human Genetics Children's Hospital of Philadelphia Philadelphia PA.; Department of Pediatrics University of Tabuk Tabuk Saudi Arabia., Priestley JRC; Division of Human Genetics Children's Hospital of Philadelphia Philadelphia PA., Wilkins BJ; Department of Pathology and Laboratory Medicine Children's Hospital of Philadelphia University of Pennsylvania Perelman School of Medicine Philadelphia PA., Ganetzky RD; Division of Human Genetics Children's Hospital of Philadelphia Philadelphia PA.; Mitochondrial Medicine Frontier Program Division of Human Genetics Children's Hospital of Philadelphia Philadelphia PA.; Department of Pediatrics University of Pennsylvania Perelman School of Medicine Philadelphia PA.

Publikováno v: Clinical liver disease [Clin Liver Dis (Hoboken)] 2021 Jul 22; Vol. 18 (5), pp. 243-250. Date of Electronic Publication: 2021 Jul 22 (Print Publication: 2021).

NRF2 activation with Protandim attenuates salt-induced vascular dysfunction and microvascular rarefaction.

Autor: Priestley JRC; Department of Physiology, Medical College of Wisconsin, Milwaukee, Wisconsin., Fink KE; Department of Physiology, Medical College of Wisconsin, Milwaukee, Wisconsin., McCord JM; Division of Pulmonary Sciences and Critical Care Medicine Research, University of Colorado at Denver - Anschutz Medical Campus, Aurora, Colorado., Lombard JH; Department of Physiology, Medical College of Wisconsin, Milwaukee, Wisconsin.

Publikováno v: Microcirculation (New York, N.Y. : 1994) [Microcirculation] 2019 Oct; Vol. 26 (7), pp. e12575. Date of Electronic Publication: 2019 Jun 19.