Endothelial HIF-2α regulates murine pathological angiogenesis and revascularization processes.

Autor: Skuli N (AUTHOR), Majmundar AJ (AUTHOR), Krock BL (AUTHOR), Mesquita RC (AUTHOR), Mathew LK (AUTHOR), Quinn ZL (AUTHOR), Runge A (AUTHOR), Liu L (AUTHOR), Kim MN (AUTHOR), Liang J (AUTHOR), Schenkel S (AUTHOR), Yodh AG (AUTHOR), Keith B (AUTHOR), Simon MC (AUTHOR), Skuli, Nicolas¹ (AUTHOR), Majmundar, Amar J (AUTHOR), Krock, Bryan L (AUTHOR), Mesquita, Rickson C (AUTHOR), Mathew, Lijoy K (AUTHOR), Quinn, Zachary L (AUTHOR)

Publikováno v: Journal of Clinical Investigation. Apr2012, Vol. 122 Issue 4, p1427-1443. 17p.

Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?

Autor: Murrell JR; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Nesbitt AMI; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Baker SW; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Pechter KB; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Balciuniene J; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Zhao X; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Denenberg EH; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., DeChene ET; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Wu C; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Jayaraman P; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Cao K; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Gonzalez M; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Devoto M; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Department of Translational and Precision Medicine, University of Rome Sapienza, Rome, Italy., Testori A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy., Monos JD; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Dulik MC; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Conlin LK; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Luo M; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., McDonald Gibson K; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Guan Q; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Sarmady M; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Bhoj E; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Bedoukian EC; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Wilkens A; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Tarpinian J; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Izumi K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Deardorff MA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Medne L; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Krantz ID; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Krock BL; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Santani AB; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address: asantani@veritasgenetics.com.

Publikováno v: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2022 Mar; Vol. 24 (3), pp. 274-286. Date of Electronic Publication: 2022 Jan 19.

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.

Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Autor: Bean LJH; Department of Human Genetics, Emory University, Atlanta, GA, USA.; EGL Genetics, Tucker, GA, USA., Funke B; Department of Pathology, Harvard Medical School/Massachusetts General Hospital, Boston, MA, USA.; Veritas Genetics, Danvers, MA, USA., Carlston CM; School of Medicine, University of California, San Francisco, CA, USA., Gannon JL; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO, USA.; Department of Pediatrics, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Kantarci S; Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA., Krock BL; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Zhang S; Department of Pathology and Laboratory Medicine, University of Kentucky, Lexington, KY, USA., Bayrak-Toydemir P; Department of Pathology, University of Utah, Salt Lake City, UT, USA.; ARUP Laboratories, University of Utah, Salt Lake City, UT, USA.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Mar; Vol. 22 (3), pp. 453-461. Date of Electronic Publication: 2019 Nov 16.

Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach.

Autor: Wu C; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, 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., Evans P; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Zhao X; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Baker SW; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Niazi R; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Cao K; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Gonzalez MA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Jayaraman P; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Conlin LK; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Krock BL; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Deardorff MA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Division of Human Genetics, Department of Pediatrics, Roberts individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Spinner NB; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Krantz ID; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Division of Human Genetics, Department of Pediatrics, Roberts individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Santani AB; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Tayoun ANA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. ahmad.tayoun@ajch.ae.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. ahmad.tayoun@ajch.ae., Sarmady M; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. sarmadym@chop.edu.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. sarmadym@chop.edu.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2019 Apr; Vol. 27 (4), pp. 612-620. Date of Electronic Publication: 2019 Jan 09.