المؤلفون: Voisin N; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland., Schnur RE; GeneDx, Gaithersburg, MD 20877, USA; Cooper Medical School of Rowan University, Division of Genetics, Camden, NJ 08103, USA., Douzgou S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9NT, UK., Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Rustad CF; Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway., Brown NJ; Victorian Clinical Genetics Services, Flemington Road, Parkville, VIC 3052, Australia; Murdoch Children's Research Institute, Flemington Road, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, VIC 3052, Australia., Earl DL; Seattle Children's, Seattle, WA 98105, USA., Keren B; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France., Levchenko O; Research Centre for Medical Genetics, Moscow 115522, Russia., Geuer S; Max Planck Institute for Molecular Genetics, Berlin 14195, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin 10117, Germany., Verheyen S; Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine, Medical University of Graz, 8010 Graz, Austria., Johnson D; Sheffield Clinical Genetics Service, Sheffield S10 2TQ, UK., Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 72701, USA., Hančárová M; Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic., Amor DJ; Murdoch Children's Research Institute, Flemington Road, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, VIC 3052, Australia., Bebin EM; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Blatterer J; Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine, Medical University of Graz, 8010 Graz, Austria., Brusco A; Department of Medical Sciences, University of Torino, Torino 10126, Italy; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Torino 10126, Italy., Cappuccio G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80131, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples 80078, Italy., Charrow J; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA., Chatron N; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Genetics Department, Lyon University Hospital, Lyon 69007, France., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Courtin T; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France., Dadali E; Research Centre for Medical Genetics, Moscow 115522, Russia., Delafontaine J; Swiss Institute of Bioinformatics, Lausanne 1015, Switzerland., Del Giudice E; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80131, Italy., Doco M; Secteur Génétique, CHU Reims, EA3801, SFR CAPSANTE, 51092 Reims, France., Douglas G; GeneDx, Gaithersburg, MD 20877, USA., Eisenkölbl A; Department of Pediatrics and Adolescent Medicine, Johannes Kepler University, Kepler University Hospital Linz, Krankenhausstraße 26-30, 4020 Linz, Austria., Funari T; GeneDx, Gaithersburg, MD 20877, USA., Giannuzzi G; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland., Gruber-Sedlmayr U; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, 8036 Graz, Austria., Guex N; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Bioinformatics Competence Center, University of Lausanne, Lausanne 1015, Switzerland., Heron D; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France., Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35233, USA., Juusola J; GeneDx, Gaithersburg, MD 20877, USA., Kronn D; New York Medical College, Valhalla, NY 10595, USA., Lavrov A; Research Centre for Medical Genetics, Moscow 115522, Russia., Lee C; Victorian Clinical Genetics Services, Flemington Road, Parkville, VIC 3052, Australia., Lorrain S; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Protein Analysis Facility, University of Lausanne, Lausanne 1015, Switzerland., Merckoll E; Department of Radiology, Oslo University Hospital, 0424 Oslo, Norway., Mikhaleva A; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland., Norman J; Integris Pediatric Neurology, Oklahoma City, OK 73112, USA., Pradervand S; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste 34100, Italy., Prchalová D; Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic., Rhodes L; GeneDx, Gaithersburg, MD 20877, USA., Sanders VR; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA., Sedláček Z; Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic., Seebacher HA; Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine, Medical University of Graz, 8010 Graz, Austria., Sellars EA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 72701, USA., Sirchia F; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste 34100, Italy., Takenouchi T; Center for Medical Genetics, Department of Pediatrics, Keio University School of Medicine, Tokyo 1608582, Japan., Tanaka AJ; Department of Pediatrics, Columbia University, New York, NY 10032, USA; Department of Medicine, Columbia University, New York, NY 10032, USA., Taska-Tench H; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA., Tønne E; Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway., Vitiello G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80131, Italy., Vlčková M; Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic., Uehara T; Center for Medical Genetics, Department of Pediatrics, Keio University School of Medicine, Tokyo 1608582, Japan., Nava C; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France., Yalcin B; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67404, France., Kosaki K; Center for Medical Genetics, Department of Pediatrics, Keio University School of Medicine, Tokyo 1608582, Japan., Donnai D; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9NT, UK., Mundlos S; Max Planck Institute for Molecular Genetics, Berlin 14195, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin 10117, Germany., Brunetti-Pierri N; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80131, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples 80078, Italy., Chung WK; Department of Pediatrics, Columbia University, New York, NY 10032, USA; Department of Medicine, Columbia University, New York, NY 10032, USA., Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland. Electronic address: alexandre.reymond@unil.ch.

المصدر: American journal of human genetics [Am J Hum Genet] 2021 May 06; Vol. 108 (5), pp. 857-873.

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 Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense*, Brain Diseases/*genetics , Epilepsy/*genetics , Fused Kidney/*genetics , Intellectual Disability/*genetics , Nuclear Proteins/*genetics , Osteochondrodysplasias/*genetics, Adolescent ; Amino Acid Sequence ; Animals ; Brain Diseases/etiology ; Child ; Child, Preschool ; Epilepsy/complications ; Evolution, Molecular ; Female ; Gene Frequency ; Humans ; Infant ; Male ; Mice ; Models, Molecular ; Nuclear Proteins/chemistry ; Nuclear Proteins/deficiency ; Phenotype ; Protein Stability ; Syndrome ; Transcriptional Elongation Factors/chemistry ; Transcriptional Elongation Factors/genetics ; Young Adult ; Zebrafish/genetics

المؤلفون: Marbach F; Faculty of Medicine, University of Cologne, Cologne, 50931, Germany; Institute of Human Genetics, University Hospital Cologne, Cologne, 50931, Germany., Rustad CF; Section of Clinical Genetics, Department of Medical Genetics, Oslo University Hospital, Oslo, 0424, Norway., Riess A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, 72076, Germany., Đukić D; Gregor Mendel Institute, Vienna, 1030, Austria., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, 53127, Germany., Jobani I; Private contributor, Tel Aviv, 6523217, Israel., Prescott T; Department of Medical Genetics, Telemark Hospital Trust, Skien, 3710, Norway., Bevot A; Department of Paediatric Neurology and Developmental Medicine, University Children's Hospital Tuebingen, Tuebingen, 72076, Germany., Erger F; Faculty of Medicine, University of Cologne, Cologne, 50931, Germany; Institute of Human Genetics, University Hospital Cologne, Cologne, 50931, Germany., Houge G; Department of Medical Genetics, Haukeland University Hospital, Bergen, 5021, Norway; Department of Clinical Science, University of Bergen, Bergen, 5021, Norway., Redfors M; Department of Maxillofacial Radiology, Faculty of Dentistry, University of Oslo, Oslo, 0440, Norway; National Resource Centre for Oral Health in Rare Medical Conditions, Lovisenberg Diakonale Hospital, Oslo, 0440, Norway., Altmueller J; University of Cologne, Cologne Center for Genomics, Cologne, 50931, Germany., Stokowy T; Department of Clinical Science, University of Bergen, Bergen, 5021, Norway., Gilissen C; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands., Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, 20246, Germany., Scarano E; Rare Disease Unit, Pediatric Clinic, Medical and Surgical Science Department, S.Orsola-Malpighi Hospital, University of Bologna, Bologna, 40138, Italy., Mazzanti L; Rare Disease Unit, Pediatric Clinic, Medical and Surgical Science Department, S.Orsola-Malpighi Hospital, University of Bologna, Bologna, 40138, Italy., Fiskerstrand T; Department of Medical Genetics, Haukeland University Hospital, Bergen, 5021, Norway; Department of Clinical Science, University of Bergen, Bergen, 5021, Norway., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, 53127, Germany., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, 20246, Germany., Netzer C; Faculty of Medicine, University of Cologne, Cologne, 50931, Germany; Institute of Human Genetics, University Hospital Cologne, Cologne, 50931, Germany. Electronic address: christian.netzer@uk-koeln.de.

المصدر: American journal of human genetics [Am J Hum Genet] 2019 Apr 04; Vol. 104 (4), pp. 749-757. Date of Electronic Publication: 2019 Mar 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: Mutation*, Membrane Proteins/*genetics , Nuclear Proteins/*genetics , Progeria/*genetics, Adolescent ; Artificial Intelligence ; Cell Line, Tumor ; Cell Nucleus ; Child ; Child, Preschool ; Diagnosis, Computer-Assisted ; Face ; Fibroblasts/metabolism ; Humans ; Male ; Mass Screening/methods ; Medical Informatics ; Phenotype ; Prognosis ; Syndrome

المؤلفون: Stray-Pedersen A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Center for Human Immunobiology, Texas Children's Hospital, Houston, TX 77030, USA; Section of Immunology, Allergy, and Rheumatology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX 77030, USA; Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway. Electronic address: strayped@bcm.edu., Backe PH; Department of Microbiology, Oslo University Hospital, 0424 Oslo, Norway; Department of Medical Biochemistry, Oslo University Hospital, 0424 Oslo, Norway; Institute of Clinical Medicine, University of Oslo, 0318 Oslo, Norway., Sorte HS; Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway., Mørkrid L; Department of Medical Biochemistry, Oslo University Hospital, 0424 Oslo, Norway; Institute of Clinical Medicine, University of Oslo, 0318 Oslo, Norway., Chokshi NY; Section of Immunology, Allergy, and Rheumatology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Erichsen HC; Department of Pediatrics, Oslo University Hospital, 0424 Oslo, Norway., Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Elgstøen KB; Department of Medical Biochemistry, Oslo University Hospital, 0424 Oslo, Norway., Bjørås M; Department of Microbiology, Oslo University Hospital, 0424 Oslo, Norway; Institute of Clinical Medicine, University of Oslo, 0318 Oslo, Norway., Wlodarski MW; Department of Pediatrics, Freiburg University Hospital, 79106 Freiburg, Germany., Krüger M; Department of Pediatrics, Freiburg University Hospital, 79106 Freiburg, Germany., Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Patel A; Medical Genetics Laboratories, Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Raymond KM; Department of Laboratory Medicine and Pathology, Mayo College of Medicine, Rochester, MN 55905, USA., Sasa GS; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Center for Cell and Gene Therapy and Texas Children's Cancer and Hematology Centers, Baylor College of Medicine and Texas Children's Hospital, Houston, TX 77030, USA., Krance RA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Center for Cell and Gene Therapy and Texas Children's Cancer and Hematology Centers, Baylor College of Medicine and Texas Children's Hospital, Houston, TX 77030, USA., Martinez CA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Center for Cell and Gene Therapy and Texas Children's Cancer and Hematology Centers, Baylor College of Medicine and Texas Children's Hospital, Houston, TX 77030, USA., Abraham SM; Pediatric Hematology Oncology, University of New Mexico, Albuquerque, NM 87106, USA., Speckmann C; Department of Pediatrics, Freiburg University Hospital, 79106 Freiburg, Germany., Ehl S; Department of Pediatrics, Freiburg University Hospital, 79106 Freiburg, Germany., Hall P; Emory Genetics Laboratory, Department of Human Genetics, Emory University, Decatur, GA 30033, USA., Forbes LR; Center for Human Immunobiology, Texas Children's Hospital, Houston, TX 77030, USA; Section of Immunology, Allergy, and Rheumatology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Merckoll E; Department of Radiology, Oslo University Hospital, 0424 Oslo, Norway., Westvik J; Department of Radiology, Oslo University Hospital, 0424 Oslo, Norway., Nishimura G; Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, 2-8-29 Musashidai, Fuchu, Tokyo 183-8561, Japan., Rustad CF; Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway., Abrahamsen TG; Institute of Clinical Medicine, University of Oslo, 0318 Oslo, Norway; Department of Pediatrics, Oslo University Hospital, 0424 Oslo, Norway., Rønnestad A; Department of Pediatrics, Oslo University Hospital, 0424 Oslo, Norway., Osnes LT; Department of Immunology and Transfusion Medicine, Oslo University Hospital, 0424 Oslo, Norway., Egeland T; Institute of Clinical Medicine, University of Oslo, 0318 Oslo, Norway; Department of Immunology and Transfusion Medicine, Oslo University Hospital, 0424 Oslo, Norway., Rødningen OK; Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway., Beck CR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Boerwinkle EA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Human Genetics Center, University of Texas Health Science Center, Houston, TX 77030, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics Laboratories, Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: jlupski@bcm.tmc.edu., Orange JS; Center for Human Immunobiology, Texas Children's Hospital, Houston, TX 77030, USA; Section of Immunology, Allergy, and Rheumatology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Lausch E; Department of Pediatrics, Freiburg University Hospital, 79106 Freiburg, Germany., Hanson IC; Section of Immunology, Allergy, and Rheumatology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.

مؤلفون مشاركون: Baylor-Johns Hopkins Center for Mendelian Genomics

المصدر: American journal of human genetics [Am J Hum Genet] 2014 Jul 03; Vol. 95 (1), pp. 96-107. Date of Electronic Publication: 2014 Jun 12.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; 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: Mutation*, Bone Diseases, Developmental/*genetics , Congenital Disorders of Glycosylation/*genetics , Immunologic Deficiency Syndromes/*genetics , Phosphoglucomutase/*genetics, Female ; Humans ; Male ; Pedigree