المؤلفون: Snijders Blok L; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Madsen E; Center for Human Disease Modeling, Department of Cell Biology, Duke University Medical Center, Durham, NC 27710, USA., Juusola J; GeneDx, Gaithersburg, MD 20877, USA., Gilissen C; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Baralle D; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK., Reijnders MR; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Venselaar H; Nijmegen Centre for Molecular and Biomolecular Informatics, Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Helsmoortel C; Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, 2650 Antwerp, Belgium., Cho MT; GeneDx, Gaithersburg, MD 20877, USA., Hoischen A; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Vissers LE; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Koemans TS; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Wissink-Lindhout W; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Eichler EE; Department of Genome Sciences, University of Washington, Seattle, WA 98195-5065, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA., Romano C; Pediatrics and Medical Genetics, IRCCS Associazione Oasi Maria Santissima, 94018 Troina, Italy., Van Esch H; Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium., Stumpel C; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht UMC+, 6202 AZ Maastricht, the Netherlands., Vreeburg M; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht UMC+, 6202 AZ Maastricht, the Netherlands., Smeets E; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht UMC+, 6202 AZ Maastricht, the Netherlands., Oberndorff K; Department of Pediatrics, Atrium-Orbis Medical Center, 6162 BG Sittard, the Netherlands., van Bon BW; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; School of Paediatrics and Reproductive Health and Robinson Research Institute, The University of Adelaide, Adelaide, SA 5006, Australia., Shaw M; School of Paediatrics and Reproductive Health and Robinson Research Institute, The University of Adelaide, Adelaide, SA 5006, Australia., Gecz J; School of Paediatrics and Reproductive Health and Robinson Research Institute, The University of Adelaide, Adelaide, SA 5006, Australia., Haan E; School of Paediatrics and Reproductive Health and Robinson Research Institute, The University of Adelaide, Adelaide, SA 5006, Australia; South Australian Clinical Genetics Service, SA Pathology, Adelaide, SA 5006, Australia., Bienek M; Department of Human Genetics, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany., Jensen C; Department of Human Genetics, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany., Loeys BL; Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, 2650 Antwerp, Belgium., Van Dijck A; Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, 2650 Antwerp, Belgium., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada., Racher H; Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada., Vermeer S; Department of Genetics, University Medical Center Groningen, 9700 RB Groningen, the Netherlands., Di Donato N; Faculty of Medicine, Carl Gustav Carus TU Dresden, 01307 Dresden, Germany., Rump A; Faculty of Medicine, Carl Gustav Carus TU Dresden, 01307 Dresden, Germany., Tatton-Brown K; St George's University of London, London SW17 0RE, UK., Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Western Bank, Sheffield S10 2TH, UK., Henderson A; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK., Lynch SA; National Centre for Medical Genetics, Temple Street Children's Hospital, Crumlin, Dublin 12, Ireland., Fryer A; Department of Clinical Genetics, Liverpool Women's Hospital and Alder Hey Children's Hospital, Liverpool L8 7SS, UK., Ross A; North of Scotland Regional Genetics Service, Clinical Genetics Centre, Aberdeen AB25 2ZA, UK., Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester LE1 5WW, UK., Kini U; Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford OX3 7LE, UK., Newbury-Ecob R; Department of Clinical Genetics, University Hospitals, Bristol BS1 3NU, UK., Chandler K; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester M13 9WL, UK., Male A; North East Thames Regional Genetics Service, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK., Dijkstra S; ORO, Organisation for People with Intellectual Disabilities, 5751 PH Deurne, the Netherlands., Schieving J; Department of Child Neurology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Giltay J; Department of Medical Genetics, University Medical Center Utrecht, 3508 AB Utrecht, the Netherlands., van Gassen KL; Department of Medical Genetics, University Medical Center Utrecht, 3508 AB Utrecht, the Netherlands., Schuurs-Hoeijmakers J; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Tan PL; Center for Human Disease Modeling, Department of Cell Biology, Duke University Medical Center, Durham, NC 27710, USA., Pediaditakis I; Center for Human Disease Modeling, Department of Cell Biology, Duke University Medical Center, Durham, NC 27710, USA., Haas SA; Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany., Retterer K; GeneDx, Gaithersburg, MD 20877, USA., Reed P; GeneDx, Gaithersburg, MD 20877, USA., Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA., Haverfield E; GeneDx, Gaithersburg, MD 20877, USA., Natowicz M; Pathology & Laboratory Medicine and Genomic Medicine Institutes, Cleveland Clinic, Cleveland, OH 44195, USA., Myers A; Sanford Children's Specialty Clinic, Sioux Falls, SD 57105, USA., Kruer MC; Sanford Children's Specialty Clinic, Sioux Falls, SD 57105, USA; Barrow Neurological Institute and Ronald A. Matricaria Institute of Molecular Medicine, Phoenix Children's Hospital, Phoenix, AZ 57117, USA., Stein Q; Barrow Neurological Institute and Ronald A. Matricaria Institute of Molecular Medicine, Phoenix Children's Hospital, Phoenix, AZ 57117, USA., Strauss KA; Clinic for Special Children, Franklin & Marshall College, Pennsylvania, PA 17579, USA., Brigatti KW; Clinic for Special Children, Franklin & Marshall College, Pennsylvania, PA 17579, USA., Keating K; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA., Burton BK; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA., Kim KH; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA., Charrow J; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA., Norman J; Integris Pediatric Neurology, Oklahoma City, OK 73112, USA., Foster-Barber A; Child Neurology and Palliative Care, Benioff Children's Hospital, San Francisco, CA 94925, USA., Kline AD; The Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD 21204, USA., Kimball A; The Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD 21204, USA., Zackai E; Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Harr M; Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Fox J; Division of Medical Genetics, Cohen Children's Medical Center, New Hyde Park, NY 11040, USA., McLaughlin J; Division of Medical Genetics, Cohen Children's Medical Center, New Hyde Park, NY 11040, USA., Lindstrom K; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85006, USA., Haude KM; University of Rochester Medical Center, Rochester, NY 14642, USA., van Roozendaal K; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht UMC+, 6202 AZ Maastricht, the Netherlands., Brunner H; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht UMC+, 6202 AZ Maastricht, the Netherlands., Chung WK; Departments of Pediatrics & Medicine, Columbia University Medical Center, New York, NY 10032, USA., Kooy RF; Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, 2650 Antwerp, Belgium., Pfundt R; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Kalscheuer V; Department of Human Genetics, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany., Mehta SG; East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK., Katsanis N; Center for Human Disease Modeling, Department of Cell Biology, Duke University Medical Center, Durham, NC 27710, USA. Electronic address: nicholas.katsanis@duke.edu., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: tjitske.kleefstra@radboudumc.nl.

مؤلفون مشاركون: DDD Study

المصدر: American journal of human genetics [Am J Hum Genet] 2015 Aug 06; Vol. 97 (2), pp. 343-52. Date of Electronic Publication: 2015 Jul 30.

نوع المنشور: Case Reports; 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: Phenotype* , Sex Characteristics*, DEAD-box RNA Helicases/*genetics , Intellectual Disability/*genetics , Mutation, Missense/*genetics , Wnt Signaling Pathway/*genetics, Amino Acid Substitution/genetics ; Animals ; Base Sequence ; Embryo, Nonmammalian/metabolism ; Embryo, Nonmammalian/pathology ; Exome/genetics ; Female ; Gene Dosage/genetics ; Humans ; Intellectual Disability/pathology ; Male ; Molecular Sequence Data ; Sequence Analysis, DNA ; Zebrafish

المؤلفون: Blok, Lot Snijders, Madsen, Erik, Juusola, Jane, Gilissen, Christian, Baralle, Diana, Reijnders, Margot RF, Venselaar, Hanka, Helsmoortel, Céline, Cho, Megan T, Hoischen, Alexander, Vissers, Lisenka ELM, Koemans, Tom S, Wissink-Lindhout, Willemijn, Eichler, Evan E, Romano, Corrado, Van Esch, Hilde, Stumpel, Connie, Vreeburg, Maaike, Smeets, Eric, Oberndorff, Karin, van Bon, Bregje WM, Shaw, Marie, Gecz, Jozef, Haan, Eric, Bienek, Melanie, Jensen, Corinna, Loeys, Bart L, Van Dijck, Anke, Innes, A Micheil, Racher, Hilary, Vermeer, Sascha, Di Donato, Nataliya, Rump, Andreas, Tatton-Brown, Katrina, Parker, Michael J, Henderson, Alex, Lynch, Sally A, Fryer, Alan, Ross, Alison, Vasudevan, Pradeep, Kini, Usha, Newbury-Ecob, Ruth, Chandler, Kate, Male, Alison, Study, the DDD, Dijkstra, Sybe, Schieving, Jolanda, Giltay, Jacques, van Gassen, Koen LI, Schuurs-Hoeijmakers, Janneke, Tan, Perciliz L, Pediaditakis, Igor, Haas, Stefan A, Retterer, Kyle, Reed, Patrick, Monaghan, Kristin G, Haverfield, Eden, Natowicz, Marvin, Myers, Angela, Kruer, Michael C, Stein, Quinn, Strauss, Kevin A, Brigatti, Karlla W, Keating, Katherine, Burton, Barbara K, Kim, Katherine H, Charrow, Joel, Norman, Jennifer, Foster-Barber, Audrey, Kline, Antonie D, Kimball, Amy, Zackai, Elaine, Harr, Margaret, Fox, Joyce, McLaughlin, Julie, Lindstrom, Kristin, Haude, Katrina M, van Roozendaal, Kees, Brunner, Han, Chung, Wendy K, Kooy, R Frank, Pfundt, Rolph, Kalscheuer, Vera, Mehta, Sarju G, Katsanis, Nicholas, Kleefstra, Tjitske

المصدر: American Journal of Human Genetics. 97(2)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Intellectual and Developmental Disabilities (IDD), Human Genome, Clinical Research, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Amino Acid Substitution, Animals, Base Sequence, DEAD-box RNA Helicases, Embryo, Nonmammalian, Exome, Female, Gene Dosage, Humans, Intellectual Disability, Male, Molecular Sequence Data, Mutation, Missense, Phenotype, Sequence Analysis, DNA, Sex Characteristics, Wnt Signaling Pathway, Zebrafish, DDD Study, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7z24v4hn