Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.

Autor: Chen R; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Diaz-Miranda MA; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Aref-Eshghi E; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Hartman TR; Division of Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Griffith C; Department of Pediatrics, University of South Florida, Tampa, Florida, USA., Morrison JL; Division of Genetics, Arnold Palmer Hospital, Orlando, Florida, USA., Wheeler PG; Division of Genetics, Arnold Palmer Hospital, Orlando, Florida, USA., Torti E; GeneDx, Gaithersburg, Maryland, USA., Richard G; GeneDx, Gaithersburg, Maryland, USA., Kenna M; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Otolaryngology-Head and Neck Surgery, Harvard Medical School, Boston, Massachusetts, USA., Dechene ET; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Spinner NB; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Bai R; GeneDx, Gaithersburg, Maryland, USA., Conlin LK; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Krantz ID; Division of Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Amr SS; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, Massachusetts, USA.; Department of Pathology, Harvard Medical School, Boston, Massachusetts, USA., Luo M; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Publikováno v: Human mutation [Hum Mutat] 2022 Dec; Vol. 43 (12), pp. 1837-1843. Date of Electronic Publication: 2022 Aug 02.

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

Autor: Tolchin D; Department of Surgery, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Yeager JP; Department of Surgery, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Prasad P; Department of Obstetrics and Gynecology, Wayne State University School of Medicine, Detroit, MI 48201, USA., Dorrani N; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA., Russi AS; Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA., Martinez-Agosto JA; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA., Haseeb A; Department of Surgery, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Angelozzi M; Department of Surgery, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Santen GWE; Department of Clinical Genetics, Leiden University Medical Centre, 2300 LC Leiden, the Netherlands., Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Centre, 2300 LC Leiden, the Netherlands., Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada; Institute of Medical Sciences, University of Toronto, Toronto, ON M5G 1X8, Canada., Depienne C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany., Kuechler A; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany., Mikat B; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany., Ludecke HJ; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany; Institute für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität, 40225 Düsseldorf, Germany., Bilan F; Neurovascular Unit and Cognitive Disorders (EA-3808 NEUVACOD), Université de Poitiers, 86073 Poitiers, France; Service de Génétique Clinique, Centre Hospitalier Universitaire de Poitiers, 86021 Poitiers, France., Le Guyader G; Neurovascular Unit and Cognitive Disorders (EA-3808 NEUVACOD), Université de Poitiers, 86073 Poitiers, France; Service de Génétique Clinique, Centre Hospitalier Universitaire de Poitiers, 86021 Poitiers, France., Gilbert-Dussardier B; Neurovascular Unit and Cognitive Disorders (EA-3808 NEUVACOD), Université de Poitiers, 86073 Poitiers, France; Service de Génétique Clinique, Centre Hospitalier Universitaire de Poitiers, 86021 Poitiers, France., Keren B; Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013 Paris, France., Heide S; Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013 Paris, France., Haye D; Service de Génétique, Centre Hospitalier Universitaire de Nice Hôpital de l'Archet 2,151 route Saint Antoine de la Ginestière, 062002 Nice, France., Van Esch H; Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium., Keldermans L; Laboratory for Molecular Diagnosis, Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium., Ortiz D; University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA 15224, USA., Lancaster E; University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA 15224, USA., Krantz ID; Roberts Individualized Medical Genetics Center, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Krock BL; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Pechter KB; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Arkader A; Department of Surgery, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Medne L; Roberts Individualized Medical Genetics Center, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., DeChene ET; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Calpena E; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK., Melistaccio G; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK., Wilkie AOM; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham NG5 1PB, UK., Suri M; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham NG5 1PB, UK., Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton SO16 5YA, UK., Begtrup A; GeneDx, Gaithersburg, MD 20877, USA., Henderson LB; GeneDx, Gaithersburg, MD 20877, USA., Forster C; GeneDx, Gaithersburg, MD 20877, USA., Reed P; GeneDx, Gaithersburg, MD 20877, USA., McDonald MT; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC 27707, USA., McConkie-Rosell A; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC 27707, USA., Thevenon J; Service de Génétique, Génomique, et Procréation, Centre Hospitalier Universitaire Grenoble Alpes, 38700 La Tronche, France; INSERM 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Université Grenoble Alpes, 38706 Grenoble, France., Le Tanno P; Service de Génétique, Génomique, et Procréation, Centre Hospitalier Universitaire Grenoble Alpes, 38700 La Tronche, France; INSERM 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Université Grenoble Alpes, 38706 Grenoble, France., Coutton C; Service de Génétique, Génomique, et Procréation, Centre Hospitalier Universitaire Grenoble Alpes, 38700 La Tronche, France; INSERM 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Université Grenoble Alpes, 38706 Grenoble, France., Tsai ACH; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO 80045, USA., Stewart S; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO 80045, USA., Maver A; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia., Gorazd R; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia., Pichon O; Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, 44000 Nantes, France., Nizon M; Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, 44000 Nantes, France; Université de Nantes, CNRS, INSERM, L'Institut du Thorax, 44000 Nantes, France., Cogné B; Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, 44000 Nantes, France; Université de Nantes, CNRS, INSERM, L'Institut du Thorax, 44000 Nantes, France., Isidor B; Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, 44000 Nantes, France; Université de Nantes, CNRS, INSERM, L'Institut du Thorax, 44000 Nantes, France., Martin-Coignard D; Service de Cytogénétique, Centre Hospitalier Universitaire de Le Mans, 72037 Le Mans, France., Stoeva R; Service de Cytogénétique, Centre Hospitalier Universitaire de Le Mans, 72037 Le Mans, France., Lefebvre V; Department of Surgery, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address: lefebvrev1@email.chop.edu., Le Caignec C; Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, 44000 Nantes, France; Centre Hospitalier Universitaire Toulouse, Service de Génétique Médicale, 31000 Toulouse, France. Electronic address: lecaignec.c@chu-toulouse.fr.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2020 Jun 04; Vol. 106 (6), pp. 830-845. Date of Electronic Publication: 2020 May 21.

Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype-phenotype correlations.

Autor: Hershkovitz T; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel., Kurolap A; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.; Rappaport School of Medicine, Technion - Israel Institute of Technology, Haifa, Israel., Ruhrman-Shahar N; The Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel., Monakier D; Department of Cardiology, Rabin Medical Center, Beilinson Hospital, Petah Tikva and the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., DeChene ET; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Peretz-Amit G; The Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel., Funke B; Department of Pathology, Massachusetts General Hospital, and Harvard Medical School, Boston, Massachusetts., Zucker N; Pediatric Cardiology Unit, Schneider Children's Medical Center, Petah Tikva, Israel., Hirsch R; Institute of Cardiology, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel., Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, and Harvard Medical School, Boston, Massachusetts., Baris Feldman H; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.; Rappaport School of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Mar; Vol. 179 (3), pp. 365-372. Date of Electronic Publication: 2018 Dec 27.

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Autor: Sheppard S; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Biswas S; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Li MH; Division of Genetics, Department of Pediatrics, Rush University Medical Center, Chicago, IL, USA., Jayaraman V; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Slack I; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Romasko EJ; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Sasson A; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Brunton J; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Rajagopalan R; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Sarmady M; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Abrudan JL; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Jairam S; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA., DeChene ET; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Ying X; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Choi J; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Wilkens A; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Raible SE; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Scarano MI; Division of Genetics, Cooper University Health Care, Camden, NY, USA., Santani A; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Pennington JW; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Luo M; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Conlin LK; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Devkota B; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Dulik MC; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Spinner NB; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Krantz ID; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. krantz@email.chop.edu.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. krantz@email.chop.edu.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Dec; Vol. 20 (12), pp. 1663-1676. Date of Electronic Publication: 2018 Jun 15.

Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

Autor: Li MH; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. lim@email.chop.edu.; Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Room 1012G, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. lim@email.chop.edu., Abrudan JL; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. AbrudanP@email.chop.edu.; Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Room 1012G, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. AbrudanP@email.chop.edu., Dulik MC; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. DulikM@email.chop.edu.; Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Room 1012G, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. DulikM@email.chop.edu., Sasson A; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. sassona@email.chop.edu., Brunton J; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. joshua.s.brunton@gmail.com.; Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Room 1012G, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. joshua.s.brunton@gmail.com., Jayaraman V; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. JayaramanV1@email.chop.edu.; Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Room 1012G, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. JayaramanV1@email.chop.edu., Dugan N; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. dugann@email.chop.edu.; Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. dugann@email.chop.edu., Haley D; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. daniellemhaley@gmail.com.; Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. daniellemhaley@gmail.com., Rajagopalan R; Department of Pathology & Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. rajagopalanr@email.chop.edu.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. rajagopalanr@email.chop.edu., Biswas S; Department of Pathology & Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. biswass1@email.chop.edu., Sarmady M; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. sarmadym@email.chop.edu., DeChene ET; Department of Pathology & Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. DecheneE@email.chop.edu.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. DecheneE@email.chop.edu., Deardorff MA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. DEARDORFF@email.chop.edu.; Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Room 1012G, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. DEARDORFF@email.chop.edu., Wilkens A; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. Wilkens@email.chop.edu.; Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Room 1012G, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. Wilkens@email.chop.edu., Noon SE; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. NoonS@email.chop.edu.; Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Room 1012G, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. NoonS@email.chop.edu., Scarano MI; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. scaranom@email.chop.edu.; Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Room 1012G, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. scaranom@email.chop.edu., Santani AB; Department of Pathology & Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. SANTANI@email.chop.edu.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. SANTANI@email.chop.edu., White PS; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. peter.white@cchmc.org.; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. peter.white@cchmc.org.; Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. peter.white@cchmc.org.; Present address: Department of Pediatrics, Cincinnati Children's Hospital and Medical Center, and Department of Biomedical Informatics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA. peter.white@cchmc.org., Pennington J; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. penningtonj@email.chop.edu., Conlin LK; Department of Pathology & Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. conlinl@email.chop.edu.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. conlinl@email.chop.edu., Spinner NB; Department of Pathology & Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. SPINNER@email.chop.edu.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. SPINNER@email.chop.edu., Krantz ID; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. KRANTZ@email.chop.edu.; Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Room 1012G, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. KRANTZ@email.chop.edu., Vetter VL; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. vetter@email.chop.edu.; Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. vetter@email.chop.edu.

Publikováno v: Human genomics [Hum Genomics] 2015 Jul 19; Vol. 9, pp. 15. Date of Electronic Publication: 2015 Jul 19.