Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Rippert AL"'
Autor:
Sisroe T; AU/UGA Medical Partnership of the Medical College of Georgia, University of Georgia Health Sciences Campus, Athens, Georgia, USA., Santos AD; AU/UGA Medical Partnership of the Medical College of Georgia, University of Georgia Health Sciences Campus, Athens, Georgia, USA., Rippert AL; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Gray C; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Skraban CM; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Nelson B; Clinical Teaching Unit, St. George's University School of Medicine, St. George's, Grenada., Tefft S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Helbig I; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Li D; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Bhoj EJ; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Sobering AK; AU/UGA Medical Partnership of the Medical College of Georgia, University of Georgia Health Sciences Campus, Athens, Georgia, USA.; Department of Biochemistry, St. George's University School of Medicine, St. George's, Grenada.; Windward Islands Research and Education Foundation, True Blue, St. George's, Grenada.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul 15, pp. e63816. Date of Electronic Publication: 2024 Jul 15.
Autor:
Muraresku CC; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., McCormick EM; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Rockart L; 22q and You Center, Clinical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Blaine Crowley T; 22q and You Center, Clinical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Asher S; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, Penn Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Back A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Neurology, The Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Baldino SM; Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Bedoukian E; Roberts Individualized Medical Genetics Center (RIMGC), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Britt AD; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Burrill N; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Cacioppo C; Penn Telegenetics Program, University of Pennsylvania, Philadelphia, PA 19104, USA., Clark DF; Division of Hematology and Oncology, Department of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Clark ME; Division of Hematology and Oncology, Department of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Conway L; Master of Science in Genetic Counseling Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Dratch L; Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA., Dubbs HA; Division of Neurology, 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., Ginn N; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Neurology, The Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Gray C; Roberts Individualized Medical Genetics Center (RIMGC), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Hartman T; Master of Science in Genetic Counseling Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Hathaway ER; Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Helbig KL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Hoffman-Andrews L; Division of Cardiovascular Medicine, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Kasperski S; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Keena BA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Keller KN; Center for Mitochondrial and Epigenomic Medicine, Department of Pathology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Long JM; Basser Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Lulis L; Division of Genomic Diagnostics, Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Lusk L; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Neurology, The Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., McGinn DE; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; 22q and You Center, Clinical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Mueller R; Masters Genetic Counseling Program, Department of Medical Ethics and Health Policy, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Paul RA; Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA., Pilchman L; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Powers J; Basser Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Raible SE; Roberts Individualized Medical Genetics Center (RIMGC), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Reichert S; Division of Genomic Diagnostics, Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Rippert AL; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Arnold AG; Basser Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Ruggiero SM; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Neurology, The Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Neurology, The Epilepsy Neurogenetics Initiative, Center for Epilepsy and Neurodevelopmental Disorders (ENDD), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Schindewolf E; CHOP Precision Medicine Services, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Sullivan KR; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Neurology, The Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Terek S; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Wang B; 22q and You Center, Clinical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Wells M; Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA., Wisniewski N; Obstetrics and Gynecology Reproductive Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Wright R; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Wood EM; Penn Telegenetics Program, University of Pennsylvania, Philadelphia, PA 19104, USA., Woyciechowski S; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Zelley K; Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Valverde KD; Master of Science in Genetic Counseling Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., McDonald-McGinn DM; 22q and You Center, Clinical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Human Biology and Medical Genetics, Sapienza University, 00185 Rome, Italy.
Publikováno v:
Genes [Genes (Basel)] 2024 Jul 01; Vol. 15 (7). Date of Electronic Publication: 2024 Jul 01.
Autor:
Pickart AM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Martin AS; Parent Project Muscular Dystrophy, Washington, District of Columbia, USA., Gross BN; Department of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Dellefave-Castillo LM; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., McCallen LM; Department of Pediatrics, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, Colorado, USA., Nagaraj CB; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Rippert AL; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Schultz CP; Ambry Genetics, Aliso Viejo, California, USA., Ulm EA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Armstrong N; Parent Project Muscular Dystrophy, Washington, District of Columbia, USA.
Publikováno v:
Journal of genetic counseling [J Genet Couns] 2024 Apr 29. Date of Electronic Publication: 2024 Apr 29.
Autor:
Keisling J; Rugters, The State University of New Jersey, New Brunswick, NJ., Bedoukian E; Division of Human Genetics, Individualized Medical Genetic Center, Children's Hospital of Philadelphia, Philadelphia, PA., Burstein DS; Division of Pediatric Cardiology, University of Vermont Medical Center, Burlington, VT., Gaynor JW; Division of Cardiothoracic Surgery, Children's Hospital of Philadelphia, Philadelphia, PA., Gray C; Division of Human Genetics, Individualized Medical Genetic Center, Children's Hospital of Philadelphia, Philadelphia, PA., Krantz I; Division of Human Genetics, Individualized Medical Genetic Center, Children's Hospital of Philadelphia, Philadelphia, PA., Izumi K; Division of Human Genetics, Individualized Medical Genetic Center, Children's Hospital of Philadelphia, Philadelphia, PA., Leonard J; Division of Human Genetics, Individualized Medical Genetic Center, Children's Hospital of Philadelphia, Philadelphia, PA., Lin KY; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA., Medne L; Division of Human Genetics, Individualized Medical Genetic Center, Children's Hospital of Philadelphia, Philadelphia, PA., Seymour C; Rugters, The State University of New Jersey, New Brunswick, NJ., Skraban C; Division of Human Genetics, Individualized Medical Genetic Center, Children's Hospital of Philadelphia, Philadelphia, PA., Rippert AL; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA., Ahrens-Nicklas RC; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Electronic address: ahrensnicklasr@chop.edu.
Publikováno v:
The Journal of pediatrics [J Pediatr] 2024 Feb; Vol. 265, pp. 113808. Date of Electronic Publication: 2023 Nov 03.
Autor:
Dharmadhikari AV, Abad MA, Khan S, Maroofian R, Sands TT, Ullah F, Samejima I, Wear MA, Moore KE, Kondakova E, Mitina N, Schaub T, Lee GK, Umandap CH, Berger SM, Iglesias AD, Popp B, Jamra RA, Gabriel H, Rentas S, Rippert AL, Izumi K, Conlin LK, Koboldt DC, Mosher TM, Hickey SE, Albert DVF, Norwood H, Lewanda AF, Dai H, Liu P, Mitani T, Marafi D, Pehlivan D, Posey JE, Lippa N, Vena N, Heinzen EL, Goldstein DB, Mignot C, de Sainte Agathe JM, Al-Sannaa NA, Zamani M, Sadeghian S, Azizimalamiri R, Seifia T, Zaki MS, Abdel-Salam GMH, Abdel-Hamid M, Alabdi L, Alkuraya FS, Dawoud H, Lofty A, Bauer P, Zifarelli G, Afzal E, Zafar F, Efthymiou S, Gossett D, Towne MC, Yeneabat R, Wontakal SN, Aggarwal VS, Rosenfeld JA, Tarabykin V, Ohta S, Lupski JR, Houlden H, Earnshaw WC, Davis EE, Jeyaprakash AA, Liao J
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2024 Jan 09. Date of Electronic Publication: 2024 Jan 09.
Autor:
Slocum RB; Narrative Medicine, Integrative Medicine, University of Kentucky, Lexington, Kentucky, USA., Hurst ACE; University of Alabama at Birmingham, Birmingham, Alabama, USA., Shelley E; University of Kentucky, Lexington, Kentucky, USA., Berry L; Cincinnati Children's Hospital, Cincinnati, Ohio, USA., Hopkin RJ; Cincinnati Children's Hospital, Cincinnati, Ohio, USA., Rippert AL; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Bhoj E; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Graham JM Jr; Cedars-Sinai Medical Center, Los Angeles, California, USA., Grand K; Cedars-Sinai Medical Center, Los Angeles, California, USA., Gonzalez A; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA., Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Division of Genetics and Metabolism, University of Kentucky, Lexington, Kentucky, USA.
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2023 Dec 04, pp. e32079. Date of Electronic Publication: 2023 Dec 04.
Autor:
Guo R; Division of Human Genetics, Children's Hospital of Philadelphia, Pennsylvania, Pennsylvania, USA., Rippert AL; Division of Human Genetics, Children's Hospital of Philadelphia, Pennsylvania, Pennsylvania, USA., Cook EB; Division of Human Genetics, Children's Hospital of Philadelphia, Pennsylvania, Pennsylvania, USA., Alves CAP; Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Bird LM; Department of Pediatrics, University of California San Diego; Division of Dysmorphology/Genetics, Rady Children's Hospital San Diego, San Diego, California, USA., Izumi K; Division of Human Genetics, Children's Hospital of Philadelphia, Pennsylvania, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2023 Oct; Vol. 191 (10), pp. 2602-2609. Date of Electronic Publication: 2023 May 09.
Autor:
Regan-Fendt KE; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Rippert AL; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Medne L; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., DeJesse J; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Gray C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Reichert SL; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Staropoli NP; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Santos FJR; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Krantz ID; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Murrell JR; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Departments of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Izumi K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2023 Aug; Vol. 191 (8), pp. 2149-2155. Date of Electronic Publication: 2023 May 22.
Autor:
O'Neill AG; Department of Biochemistry, University of Washington, Seattle, Washington, USA., Burrell AL; Department of Biochemistry, University of Washington, Seattle, Washington, USA., Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany., Elpeleg O; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Edvardson S; Alyn Hospital, Hebrew University School of Medicine, Jerusalem, Israel., Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Rippert AL; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Nomakuchi T; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Izumi K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Kollman JM; Department of Biochemistry, University of Washington, Seattle, Washington, USA. Electronic address: jkoll@uw.edu.
Publikováno v:
The Journal of biological chemistry [J Biol Chem] 2023 Aug; Vol. 299 (8), pp. 105012. Date of Electronic Publication: 2023 Jul 04.
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.