المؤلفون: Brownstein, CA, Beggs, AH, Homer, N, Merriman, B, Yu, TW, Flannery, KC, DeChene, ET, Towne, MC, Savage, SK, Price, EN, Holm, IA, Luquette, LJ, Lyon, E, Majzoub, J, Neupert, P, McCallie, D, Szolovits, P, Willard, HF, Mendelsohn, NJ, Temme, R, Finkel, RS, Yum, SW, Medne, L, Sunyaev, SR, Adzhubey, I, Cassa, CA, de Bakker, PIW, Duzkale, H, Dworzynski, P, Fairbrother, W, Francioli, L, Funke, BH, Giovanni, MA, Handsaker, RE, Lage, K, Lebo, MS, Lek, M, Leshchiner, I, MacArthur, DG, McLaughlin, HM, Murray, MF, Pers, TH, Polak, PP, Raychaudhuri, S, Rehm, HL, Soemedi, R, Stitziel, NO, Vestecka, S, Supper, J, Gugenmus, C, Klocke, B, Hahn, A, Schubach, M, Menzel, M, Biskup, S, Freisinger, P, Deng, M, Braun, M, Perner, S, Smith, RJH, Andorf, JL, Huang, J, Ryckman, K, Sheffield, VC, Stone, EM, Bair, T, Black-Ziegelbein, EA, Braun, TA, Darbro, B, DeLuca, AP, Kolbe, DL, Scheetz, TE, Shearer, AE, Sompallae, R, Wang, K, Bassuk, AG, Edens, E, Mathews, K, Moore, SA, Shchelochkov, OA, Trapane, P, Bossler, A, Campbell, CA, Heusel, JW, Kwitek, A, Maga, T, Panzer, K, Wassink, T, Van Daele, D, Azaiez, H, Booth, K, Meyer, N, Segal, MM, Williams, MS, Tromp, G, White, P, Corsmeier, D, Fitzgerald-Butt, S, Herman, G, Lamb-Thrush, D, McBride, KL, Newsom, D, Pierson, CR, Rakowsky, AT, Maver, A, Lovrecic, L, Palandacic, A, Peterlin, B, Torkamani, A, Wedell, A, Huss, M, Alexeyenko, A, Lindvall, JM, Magnusson, M, Nilsson, D, Stranneheim, H, Taylan, F, Gilissen, C, Hoischen, A, van Bon, B, Yntema, H, Nelen, M, Zhang, WD, Sager, J, Zhang, L, Blair, K, Kural, D, Cariaso, M, Lennon, GG, Javed, A, Agrawal, S, Ng, PC, Sandhu, KS, Krishna, S, Veeramachaneni, V, Isakov, O, Halperin, E, Friedman, E, Shomron, N, Glusman, G, Roach, JC, Caballero, J, Cox, HC, Mauldin, D, Ament, SA, Rowen, L, Richards, DR, San Lucas, FA, Gonzalez-Garay, ML, Caskey, CT, Bai, Y, Huang, Y, Fang, F, Zhang, Y, Wang, ZY, Barrera, J, Garcia-Lobo, JM, Gonzalez-Lamuno, D, Llorca, J, Rodriguez, MC, Varela, I, Reese, MG, De la Vega, FM, Kiruluta, E, Cargill, M, Hart, RK, Sorenson, JM, Lyon, GJ, Stevenson, DA, Bray, BE, Moore, BM, Eilbeck, K, Yandell, M, Zhao, HY, Hou, L, Chen, XW, Yan, XT, Chen, MJ, Li, C, Yang, C, Gunel, M, Li, PN, Kong, Y, Alexander, AC, Albertyn, ZI, Boycott, KM, Bulman, DE, Gordon, PMK, Innes, AM, Knoppers, BM, Majewski, J, Marshall, CR, Parboosingh, JS, Sawyer, SL, Samuels, ME, Schwartzentruber, J, Kohane, IS, Margulies, DM

المصدر: Genome biology. 15(3):R53

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:129420736

المؤلفون: Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, Gooding R, Jungbluth H, Muelas N, Palmio J, Penttilä S, Schmedding E, Suominen T, Straub V, Staples C, Van den Bergh PY, Vilchez JJ, Wagner KR, Wheeler PG, Wraige E, Laing NG

المصدر: HUMAN MUTATION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

مصطلحات موضوعية: MYH7, Laing distal myopathy, MPD1

URL الوصول: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::434359635dd96e0d98098c4d42de53f2
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=1753

المؤلفون: 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.

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

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Hearing Loss*/genetics , Deafness*/genetics, Humans ; RNA Splice Sites ; RNA Splicing/genetics ; Exons/genetics ; Extracellular Matrix Proteins/genetics ; GPI-Linked Proteins/genetics

المؤلفون: 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.

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

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-7811 (Electronic) Linking ISSN: 15251578 NLM ISO Abbreviation: J Mol Diagn Subsets: MEDLINE

مواضيع طبية MeSH: Exome*/genetics , Pathology, Molecular*, Child ; Humans ; Mutation ; Rare Diseases/genetics ; Retrospective Studies ; Exome Sequencing/methods

المؤلفون: 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.

مؤلفون مشاركون: Genomics England Research Consortium

المصدر: 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.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Attention Deficit Disorder with Hyperactivity/*genetics , Craniosynostoses/*genetics , Neurodevelopmental Disorders/*genetics , Osteochondroma/*genetics , SOXD Transcription Factors/*genetics, Active Transport, Cell Nucleus ; Adolescent ; Amino Acid Sequence ; Base Sequence ; Brain/embryology ; Brain/growth & development ; Brain/metabolism ; Child ; Child, Preschool ; Computer Simulation ; Female ; Genomic Structural Variation/genetics ; Humans ; Infant ; Male ; Mutation, Missense ; Neurodevelopmental Disorders/diagnosis ; RNA-Seq ; SOXD Transcription Factors/chemistry ; SOXD Transcription Factors/metabolism ; Syndrome ; Transcription, Genetic ; Transcriptome ; Translocation, Genetic/genetics

المؤلفون: Balciuniene J; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., DeChene ET; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Akgumus G; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Romasko EJ; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Cao K; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Dubbs HA; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Mulchandani S; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Spinner NB; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia., Conlin LK; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia., Marsh ED; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia., Goldberg E; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia., Helbig I; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia., Sarmady M; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia., Abou Tayoun A; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia.; now with Department of Genomics, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.

المصدر: JAMA network open [JAMA Netw Open] 2019 Apr 05; Vol. 2 (4), pp. e192129. Date of Electronic Publication: 2019 Apr 05.

نوع المنشور: Evaluation Study; Journal Article

بيانات الدورية: Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet ISSN: 2574-3805 (Electronic) Linking ISSN: 25743805 NLM ISO Abbreviation: JAMA Netw Open Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy/*diagnosis , Epilepsy/*genetics , Genetic Predisposition to Disease/*genetics , Genetic Testing/*methods , Exome Sequencing/*methods, Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Tripeptidyl-Peptidase 1

المؤلفون: 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.

المصدر: 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.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies* , Genotype* , Mutation* , Phenotype*, Cardiac Myosins/*genetics , Cardiomyopathies/*diagnosis , Cardiomyopathies/*genetics , Myosin Heavy Chains/*genetics, Adult ; Biological Variation, Population ; Biopsy ; Child ; Child, Preschool ; DNA Mutational Analysis ; Echocardiography ; Humans ; Infant ; Inheritance Patterns ; Karyotyping ; Pedigree

المؤلفون: Baker SW; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia., Murrell JR; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia., Nesbitt AI; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia., Pechter KB; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia., Balciuniene J; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia., Zhao X; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia., Yu Z; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia., Denenberg EH; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia., DeChene ET; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia., Wilkens AB; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia., Bhoj EJ; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia., Guan Q; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia., Dulik MC; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia; 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; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Abou Tayoun AN; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia; 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; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Wu C; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia., Cao K; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia., Sarmady M; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Bedoukian EC; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia., Tarpinian J; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia., Medne L; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia., Skraban CM; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Deardorff MA; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Krantz ID; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Krock BL; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia; 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; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address: santani@email.chop.edu.

المصدر: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2019 Jan; Vol. 21 (1), pp. 38-48.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print Cited Medium: Internet ISSN: 1943-7811 (Electronic) Linking ISSN: 15251578 NLM ISO Abbreviation: J Mol Diagn Subsets: MEDLINE

مواضيع طبية MeSH: Exome Sequencing/*methods, DNA/genetics ; Exome ; Female ; Genetic Testing/methods ; Genetic Variation ; Humans ; Male

المؤلفون: 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.

المصدر: 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.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: High-Throughput Nucleotide Sequencing* , Pathology, Molecular* , Exome Sequencing*, Hearing Loss/*genetics, Child, Preschool ; Exome/genetics ; Female ; Hearing Loss/diagnosis ; Hearing Loss/pathology ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation ; Phenotype

المؤلفون: Romasko EJ; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, United States., DeChene ET; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, United States., Balciuniene J; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, United States., Akgumus GT; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, United States., Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States; Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, United States., Tarpinian JM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States., Keena BA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States., Vogiatzi MG; Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, United States; Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, United States., Zackai EH; Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, United States; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States., Izumi K; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, United States; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States., Massey SL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States; Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, United States. Electronic address: MASSEYSL@EMAIL.CHOP.EDU., Tayoun ANA; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, United States; Department of Pathology & Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, United States. Electronic address: Ahmad.Tayoun@ajch.ae.

المصدر: Epilepsy research [Epilepsy Res] 2018 Sep; Vol. 145, pp. 89-92. Date of Electronic Publication: 2018 Jun 18.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Science Publishers Country of Publication: Netherlands NLM ID: 8703089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-6844 (Electronic) Linking ISSN: 09201211 NLM ISO Abbreviation: Epilepsy Res Subsets: MEDLINE

مواضيع طبية MeSH: Cadherins/*genetics , Epilepsy/*genetics , Epilepsy/*pathology , Klinefelter Syndrome/*genetics , Klinefelter Syndrome/*pathology, Child, Preschool ; Chromosomes, Human, X/genetics ; Epilepsy/complications ; Epilepsy/rehabilitation ; Humans ; Klinefelter Syndrome/complications ; Klinefelter Syndrome/rehabilitation ; Male ; Protocadherins