부산대학교 도서관

Calpena, E; Cuellar, A; Bala, K; Swagemakers, SMA; Koelling, N; McGowan, S; Phipps, JM; Balasubramanian, M; Cunningham, ML; Douzgou, S; Lattanzi, W; Morton, JEV; Shears, D; Weber, A; Wilson, LC; Lord, H; Lester, T; Johnson, D; Wall, SA; Twigg, SRF; Mathijssen, IMJ; Boardman-Pretty, F; Consortium, Genomics England Research; Boyadjiev, SA; Wilkie, AOM

Genet Med

Justice, CM; Cuellar, A; Bala, K; Sabourin, JA; Cunningham, ML; Crawford, K; Phipps, JM; Zhou, Y; Cilliers, D; Byren, JC; Johnson, D; Wall, SA; Morton, JEV; Noons, P; Sweeney, E; Weber, A; Rees, KEM; Wilson, LC; Simeonov, E; Kaneva, R; Yaneva, N; Georgiev, K; Bussarsky, A; Senders, C; Zwienenberg, M; Boggan, J; Roscioli, T; Tamburrini, G; Barba, M; Conway, K; Sheffield, VC; Brody, L; Mills, JL; Kay, D; Sicko, RJ; Langlois, PH; Tittle, RK; Botto, LD; Jenkins, MM; LaSalle, JM; Lattanzi, W; Wilkie, AOM; Wilson, AF; Romitti, PA; Boyadjiev, SA; Study, National Birth Defects Prevention

HUMAN GENETICS, vol 139, iss 8

Walton IS; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; McCann E; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, England, UK.; Weber A; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, England, UK.; Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Craniofacial Unit, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Noons P; Birmingham Craniofacial Unit, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Wilson LC; Clinical Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Ching RC; Oxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Cilliers D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Johnson D; Oxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Phipps JM; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Shears DJ; Oxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Thomas GPL; Oxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Wall SA; Oxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Twigg SRF; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Wilkie AOM; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Oxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

Publisher: Blackwell Publishing Country of Publication: England NLM ID: 0137162 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-7580 (Electronic) Linking ISSN: 00218782 NLM ISO Abbreviation: J Anat Subsets: MEDLINE

Bernkopf M; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; NIHR Oxford Biomedical Research Centre, Oxford, UK.; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.; Abdullah UB; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; NIHR Oxford Biomedical Research Centre, Oxford, UK.; Bush SJ; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; Wood KA; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; Ghaffari S; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; Giannoulatou E; Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia.; Koelling N; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; Maher GJ; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; Thibaut LM; Centre for Population Genomics, Garvan Institute of Medical Research, UNSW Sydney, Sydney, NSW, Australia.; Williams J; Oxford Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Blair EM; NIHR Oxford Biomedical Research Centre, Oxford, UK.; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Kelly FB; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Bloss A; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Burkitt-Wright E; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.; Canham N; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK.; Deng AT; Clinical Genetics Department, Guy's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.; Dixit A; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Eason J; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Elmslie F; South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK.; Gardham A; North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, UK.; Hay E; North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Holder M; Clinical Genetics Department, Guy's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.; Homfray T; South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK.; Hurst JA; North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Johnson D; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Jones WD; North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Kini U; NIHR Oxford Biomedical Research Centre, Oxford, UK.; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Kivuva E; Clinical Genetics, Royal Devon & Exeter Hospital (Heavitree), Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.; Kumar A; North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Lees MM; North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Leitch HG; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK.; MRC London Institute of Medical Sciences, Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, UK.; Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Németh AH; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Ramachandrappa S; Clinical Genetics Department, Guy's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.; Saunders K; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Shears DJ; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Side L; Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Southampton, UK.; Splitt M; Northern Genetics Service, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK.; Stewart A; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Stewart H; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Suri M; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Clouston P; Oxford Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Davies RW; Department of Statistics, University of Oxford, Oxford, UK.; Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; NIHR Oxford Biomedical Research Centre, Oxford, UK.; Goriely A; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK. anne.goriely@imm.ox.ac.uk.; NIHR Oxford Biomedical Research Centre, Oxford, UK. anne.goriely@imm.ox.ac.uk.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Calpena E; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; McGowan SJ; Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Blanco Kelly F; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Boudry-Labis E; UF Cytogénomique des Déficiences Intellectuelles et Anomalies du Développement, Institut de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU Lille, France.; Dieux-Coeslier A; CHU Lille, Clinique de Génétique 'Guy Fontaine', Lille, France.; Harrison R; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Johnson D; Sheffield Regional Genetics Services, Sheffield Children's NHS Trust, Sheffield, UK.; Lachlan K; Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Southampton, UK.; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Stewart H; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Vasudevan P; Leicestershire Genetics Centre, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary NHS Trust, Leicester, UK.; Twigg SRF; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, UK.

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

Nicoletti P; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Zafer S; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Matok L; Azrieli Faculty of Medicine, Bar Ilan University, Safed, Israel.; Irron I; Department of Life Sciences, Faculty of Natural Sciences and The Center for Evolutionarily Genomics and Medicine, Ben Gurion University, Beer Sheva, Israel.; Patrick M; Department of Life Sciences, Faculty of Natural Sciences and The Center for Evolutionarily Genomics and Medicine, Ben Gurion University, Beer Sheva, Israel.; Haklai R; Department of Life Sciences, Faculty of Natural Sciences and The Center for Evolutionarily Genomics and Medicine, Ben Gurion University, Beer Sheva, Israel.; Evangelista JE; Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Marino GB; Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Ma'ayan A; Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Sewda A; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY.; Holmes G; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Britton SR; Department of Population Health Sciences, Weill Cornell Medical College of Cornell University New York, NY.; Lee WJ; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Wu M; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Ru Y; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Arnaud E; Department of Neurosurgery, Necker Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Botto L; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.; Brody LC; Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, MD.; Byren JC; Craniofacial Unit, Department of Plastic Surgery, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Caggana M; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY.; Carmichael SL; Department of Pediatrics, Department of Obstetrics and Gynecology, Stanford University, Stanford, CA.; Cilliers D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Conway K; Department of Epidemiology, University of Iowa, Iowa City, IA.; Crawford K; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom.; Cuellar A; Department of Pediatrics, University of California, Davis, CA.; Di Rocco F; Hôpital Femme Mère Enfant Hospices Civils de Lyon, Université Claude Bernard Lyon 1, Lyon, France.; Engel M; Department of Oral and Cranio-Maxillofacial Surgery, Heidelberg University Hospital, Heidelberg, Germany.; Fearon J; The Craniofacial Center, Medical City Children's Hospital Dallas, Dallas, TX.; Feldkamp ML; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.; Finnell R; Center for Precision Environmental Health, Department of Molecular and Cell Biology, Baylor College of Medicine, Houston, Texas.; Fisher S; Birth Defects Registry, New York State Department of Health, Albany, NY.; Freudlsperger C; Department of Oral and Cranio-Maxillofacial Surgery, Heidelberg University Hospital, Heidelberg, Germany.; Garcia-Fructuoso G; Hospital Sant Joan de Deu, Hospital Sant Joan de Deu, Barcelona, Spain.; Hagge R; Department of Epidemiology, University of Iowa, Iowa City, IA.; Heuzé Y; Université de Bordeaux, CNRS, Ministère de la Culture, PACEA, Pessac, France.; Harshbarger RJ; Department of Surgery, Division of Pediatric Plastic Surgery, UT Austin, Austin, TX.; Hobbs C; Rady Children's Institute for Genomic Medicine, San Diego, CA.; Howley M; Birth Defects Registry, New York State Department of Health, Albany, NY.; Jenkins MM; Division of Birth Defects and Infant Disorders, Centers for Disease Control and Prevention, Atlanta, GA.; Johnson D; Craniofacial Unit, Department of Plastic Surgery, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Justice CM; Computational and Statistical Genomics Branch, National Human Genome Research Institute, Baltimore, MD.; Kane A; Department of Plastic Surgery, UT Southwestern Medical Center, Dallas, TX.; Kay D; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY.; Gosain AK; Department of Surgery, Division of Pediatric Plastic Surgery, Children's Hospital of Chicago, Northwestern University, Chicago, IL.; Langlois P; Division of Epidemiology, Human Genetics and Environmental Sciences, University of Texas School of Public Health, Austin Campus, Austin, TX.; Legal-Mallet L; Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Université de Paris Cité, Imagine Institute, INSERM U1163, Paris, France.; Lin AE; Medical Genetics, Mass General Hospital for Children, Harvard Medical School, Boston, MA.; Mills JL; Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD.; Morton JEV; Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, United Kingdom.; Noons P; Birmingham Craniofacial Unit, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, United Kingdom.; Olshan A; Department of Epidemiology, University of North Carolina, Chapel Hill, NC.; Persing J; Division of Plastic and Reconstructive Surgery, Yale School of Medicine, New Haven, CT.; Phipps JM; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom.; Redett R; Department of Plastic and Reconstructive Surgery, Johns Hopkins University, Baltimore, MD.; Reefhuis J; Division of Birth Defects and Infant Disorders, Centers for Disease Control and Prevention, Atlanta, GA.; Rizk E; Department of Neurosurgery, Pennsylvania State University Medical Center, Hershey, PA.; Samson TD; Division of Plastic and Reconstructive Surgery, Department of Surgery, Pennsylvania State University Medical Center, Hershey, PA.; Shaw GM; Department of Pediatrics, Stanford University, Stanford, CA.; Sicko R; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY.; Smith N; Neuroscience Institute, Pennsylvania State University, College of Medicine, Hershey Medical Center, Hershey, PA.; Staffenberg D; Hansjörg Wyss Department of Plastic Surgery, NYU Langone Medical Center, Hassenfeld Children's Hospital, New York, NY.; Stoler J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; Sweeney E; Department of Clinical Genetics, Liverpool Women's Hospital NHS Trust, Liverpool, United Kingdom.; Taub PJ; Division of Plastic and Reconstructive Surgery, Icahn School of Medicine at Mount Sinai, New York, NY.; Timberlake AT; Hansjörg Wyss Department of Plastic Surgery, NYU Langone Medical Center, Hassenfeld Children's Hospital, New York, NY.; Topczewska J; Department of Surgery, Division of Pediatric Plastic Surgery, Children's Hospital of Chicago, Northwestern University, Chicago, IL.; Wall SA; Craniofacial Unit, Department of Plastic Surgery, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Wilson AF; Computational and Statistical Genomics Branch, National Human Genome Research Institute, Baltimore, MD.; Wilson LC; Clinical Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Boyadjiev SA; Department of Pediatrics, University of California, Davis, CA.; Wilkie AOM; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom.; Richtsmeier JT; Department of Anthropology, Pennsylvania State University, University Park, PA.; Jabs EW; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Romitti PA; Department of Epidemiology, University of Iowa, Iowa City, IA.; Karasik D; Azrieli Faculty of Medicine, Bar Ilan University, Safed, Israel.; Birnbaum RY; Department of Life Sciences, Faculty of Natural Sciences and The Center for Evolutionarily Genomics and Medicine, Ben Gurion University, Beer Sheva, Israel.; Peter I; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE

Morgan, N; Westaway, SK; Morton, JEV; Gregory, A; Gissen, P; Sonek, S; Cangul, H; Coryell, J; Canham, N; Nardocci, N; Zorzi, G; Pasha, S; Rodriguez, D; Desguerre, I; Mubaidin, A; Bertini, E; Trembath, RC; Simonati, A; Schanen, C; Johnson, CA; Levinson, B; Woods, CG; Wilmot, B; Kramer, P; Gitschier, J; Hayflick, SJ; Maher, ER

Glass GE; Department of Surgery, Sidra Medicine, Doha, Qatar.; Division of Clinical Surgery, Weill Cornell Medical College, Doha, Qatar.; O'Hara J; Department of Craniofacial Surgery, Great Ormond Street Hospital, London, United Kingdom.; Canham N; North West Thames Regional Genetics Service, Kennedy Galton Centre, Northwick Park and St. Mark's Hospitals, Harrow, United Kingdom.; Cilliers D; Clinical Genetics Service, Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Nuffield Orthopedic Centre, Oxford, United Kingdom.; Dunaway D; Department of Craniofacial Surgery, Great Ormond Street Hospital, London, United Kingdom.; Fenwick AL; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.; Jeelani NO; Department of Surgery, Sidra Medicine, Doha, Qatar.; Department of Craniofacial Surgery, Great Ormond Street Hospital, London, United Kingdom.; Johnson D; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, United Kingdom.; Lester T; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, United Kingdom.; Lord H; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, United Kingdom.; Morton JEV; Department of Clinical Genetics, West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, United Kingdom.; Department of Clinical Genetics, Birmingham Women's and Children's Hospitals, NHS Foundation Trust, Birmingham, United Kingdom.; Nishikawa H; Department of Craniofacial Surgery, Birmingham Children's Hospital, Birmingham, United Kingdom.; Noons P; Department of Clinical Genetics, West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, United Kingdom.; Department of Clinical Genetics, Birmingham Women's and Children's Hospitals, NHS Foundation Trust, Birmingham, United Kingdom.; Schwiebert K; Department of Clinical & Academic Ophthalmology, Great Ormond Street Hospital, London, United Kingdom.; Shipster C; Department of Craniofacial Surgery, Great Ormond Street Hospital, London, United Kingdom.; Taylor-Beadling A; Molecular Genetics Laboratory, North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, United Kingdom.; Twigg SRF; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.; Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester, Glenfield Hospital, Leicester, United Kingdom.; Wall SA; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, United Kingdom.; Wilkie AOM; Clinical Genetics Service, Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Nuffield Orthopedic Centre, Oxford, United Kingdom.; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, United Kingdom.; Wilson LC; Clinical Genetics Service, Great Ormond Street Hospital, London, United Kingdom.

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

Calpena E; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Wurmser M; Institut Cochin, INSERM, CNRS, Université de Paris, Paris, France.; McGowan SJ; Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Atique R; Centro de Estudos do Genoma Humano, Universidade de São Paulo, São Paulo, Brazil.; Bertola DR; Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.; Instituto de Biociências, Universidade de São Paulo, São Paulo, São Paulo, Brazil.; Cunningham ML; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington, USA.; Seattle Children's Craniofacial Center, Seattle Children's Hospital, and Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, Washington, USA.; Gustafson JA; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington, USA.; Johnson D; Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Passos-Bueno MR; Centro de Estudos do Genoma Humano, Universidade de São Paulo, São Paulo, Brazil.; Timberlake AT; Hansjörg Wyss Department of Plastic Surgery, New York University Langone Medical Center, New York, New York, USA.; Lifton RP; Rockefeller University, New York, New York, USA.; Wall SA; Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Twigg SRF; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Maire P; Institut Cochin, INSERM, CNRS, Université de Paris, Paris, France.; Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK andrew.wilkie@imm.ox.ac.uk.; Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Hyder Z; Genomics England, London, UK.; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.; Calpena E; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Pei Y; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Tooze RS; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Brittain H; Genomics England, London, UK.; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Twigg SRF; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Cilliers D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; McCann E; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK.; Weber A; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK.; Wilson LC; Clinical Genetics Service, Great Ormond Street Hospital, London, UK.; Douglas AGL; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; McGowan R; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK.; Need A; Genomics England, London, UK.; Bond A; Genomics England, London, UK.; Tavares ALT; Genomics England, London, UK.; Thomas ERA; Genomics England, London, UK.; South East Regional Genetics Service, Guy's and St Thomas' NHS Trust, London, UK.; Hill SL; Genomics Unit, NHS England & NHS Improvement, London, UK.; Deans ZC; Genomics Unit, NHS England & NHS Improvement, London, UK.; Boardman-Pretty F; Genomics England, London, UK.; Caulfield M; Genomics England, London, UK.; William Harvey Research Institute, Queen Mary University of London, London, UK.; Scott RH; Genomics England, London, UK. Richard.Scott@genomicsengland.co.uk.; Clinical Genetics Service, Great Ormond Street Hospital, London, UK. Richard.Scott@genomicsengland.co.uk.; Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK. andrew.wilkie@imm.ox.ac.uk.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. andrew.wilkie@imm.ox.ac.uk.

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

Wright CF; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Royal Devon & Exeter Hospital, Exeter EX2 5DW, UK.; Quaife NM; National Heart & Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London W12 0NN, UK; Cardiovascular Research Centre, Royal Brompton & Harefield Hospitals NHS Trust, London SW3 6NP, UK.; Ramos-Hernández L; Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC), 28029 Madrid, Spain.; Danecek P; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1RQ, UK.; Ferla MP; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.; Samocha KE; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1RQ, UK.; Kaplanis J; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1RQ, UK.; Gardner EJ; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1RQ, UK.; Eberhardt RY; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1RQ, UK.; Chao KR; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Karczewski KJ; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Morales J; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Cambridge CB10 1SD, UK.; Gallone G; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1RQ, UK.; Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield S10 2TH, UK; Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, Sheffield S10 2TH, UK.; Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Oxford Road, Manchester M13 9PL, UK.; Gompertz L; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.; Kerr B; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Oxford Road, Manchester M13 9PL, UK.; Kirby A; Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC 27101, USA.; Lynch SA; UCD Academic Centre on Rare Diseases, School of Medicine and Medical Sciences, University College Dublin, and Clinical Genetics, Temple Street Children's University Hospital, Dublin D01 XD99, Ireland.; Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham B4 6NH, UK.; Pinz H; Department of Pediatrics, Saint Louis University School of Medicine, Saint Louis, MO 63104, USA.; Sansbury FH; All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4AY, UK.; Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK.; Zuccarelli BD; Department of Neurology, University of Kansas School of Medicine-Salina Campus, Salina, KS 67401, USA.; Cook SA; National Heart & Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London W12 0NN, UK.; Taylor JC; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.; Juusola J; GeneDx, Gaithersburg, MD 20877, USA.; Retterer K; GeneDx, Gaithersburg, MD 20877, USA.; Firth HV; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1RQ, UK; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK.; Hurles ME; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1RQ, UK.; Lara-Pezzi E; Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC), 28029 Madrid, Spain; CIBER de enfermedades CardioVasculares (CIBERCV), 28029 Madrid, Spain.; Barton PJR; National Heart & Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London W12 0NN, UK; Cardiovascular Research Centre, Royal Brompton & Harefield Hospitals NHS Trust, London SW3 6NP, UK.; Whiffin N; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1RQ, UK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK. Electronic address: nwhiffin@well.ox.ac.uk.

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

Calpena E; MRCWeatherall Institute of MolecularMedicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.; Cuellar A; Department of Pediatrics, University of California-Davis, Sacramento, CA, USA.; Bala K; Department of Pediatrics, University of California-Davis, Sacramento, CA, USA.; Swagemakers SMA; Departments of Pathology and Bioinformatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Koelling N; MRCWeatherall Institute of MolecularMedicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.; McGowan SJ; MRCWeatherall Institute of MolecularMedicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.; Phipps JM; MRCWeatherall Institute of MolecularMedicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.; Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Cunningham ML; Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Douzgou S; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Saint Mary's Hospital, Manchester, UK.; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK.; Lattanzi W; Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Department of Life Science and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.; Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, UK.; Weber A; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK.; Wilson LC; Clinical Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Lord H; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK.; Lester T; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK.; Johnson D; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, UK.; Wall SA; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, UK.; Twigg SRF; MRCWeatherall Institute of MolecularMedicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.; Mathijssen IMJ; Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Boardman-Pretty F; Genomics England, London, UK.; William Harvey Research Institute, Queen Mary University of London, London, UK.; Boyadjiev SA; Department of Pediatrics, University of California-Davis, Sacramento, CA, USA.; Wilkie AOM; MRCWeatherall Institute of MolecularMedicine, University of Oxford, John Radcliffe Hospital, Oxford, UK. andrew.wilkie@imm.ox.ac.uk.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. andrew.wilkie@imm.ox.ac.uk.; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, UK. andrew.wilkie@imm.ox.ac.uk.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: PubMed not MEDLINE; MEDLINE

Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands. Electronic address: lisenka.vissers@radboudumc.nl.; Kalvakuri S; Development, Aging and Regeneration Program, Sanford Burnham Prebys Medical Discovery Institute, 10901 North Torrey Pines Rd, La Jolla, CA 92037, USA.; de Boer E; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.; Geuer S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.; Oud M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.; van Outersterp I; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.; Kwint M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.; Witmond M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.; Kersten S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands; Department of Internal Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen the Netherlands.; Polla DL; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands; CAPES Foundation, Ministry of Education of Brazil, 70040-031 Brasília, Brazil.; Weijers D; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.; Begtrup A; GeneDx, 207 Perry Pkwy, Gaithersburg, MD 20877, USA.; McWalter K; GeneDx, 207 Perry Pkwy, Gaithersburg, MD 20877, USA.; Ruiz A; Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, 08208 Sabadell, Barcelona, Spain.; Gabau E; Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, 08208 Sabadell, Barcelona, Spain.; Morton JEV; West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital, Birmingham Women's and Children's NHS Foundation Trust, Edgbaston B15 2TG, UK.; Griffith C; Department of Pediatrics, University of South Florida, Tampa, FL 33606, USA.; Weiss K; The Genetics Institute, Rambam Health Care Center, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.; Gamble C; Cook Children's, 801 7th Ave, Fort Worth, TX 76104, USA.; Bartley J; Pediatric Specialty Clinics, Loma Linda University, 11234 Anderson St., Loma Linda, CA 92354, USA.; Vernon HJ; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Brunet K; Porcupine Health Unit, 169 Pine St S, Timmins, ON P4N 2K3, Canada.; Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, the Netherlands.; Kant SG; Department of Clinical Genetics, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, the Netherlands.; Kruszka P; National Human Genome Research Institute, National Institutes of Health, 10 Center Dr, Bethesda, MD 20814, USA.; Larson A; Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, CO 80045, USA.; Afenjar A; CRMR malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, Département de génétique, Sorbonne Université, AP-HP, Hôpital Trousseau, 75012 Paris, France.; Billette de Villemeur T; Children's Hospital of San Antonio, 333 N Santa Rosa St, San Antonio, TX 78207, USA.; Nugent K; Children's Hospital of San Antonio, 333 N Santa Rosa St, San Antonio, TX 78207, USA.; Raymond FL; Department of Medical Genetics, University of Cambridge, CB2 0XY Cambridge, UK.; Venselaar H; Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences (RIMLS), PO Box 9101, 6500 HB Nijmegen, the Netherlands.; Demurger F; Centre Hospitalier Bretagne Atlantique, 20 Boulevard Général Maurice Guillaudot, BP 70555, 56017 Vannes Cedex, France.; Soler-Alfonso C; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.; Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA.; Bhoj E; Center for Applied Genomics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA.; Hayes I; Genetic Health Service New Zealand, 2 Park Road, Grafton, Auckland 1023, New Zealand.; Hamilton NP; Department of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan, 1522 Simpson Road East, Ann Arbor, MI 48109-5718, USA.; Ahmad A; Department of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan, 1522 Simpson Road East, Ann Arbor, MI 48109-5718, USA.; Fisher R; Department of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan, 1522 Simpson Road East, Ann Arbor, MI 48109-5718, USA.; van den Born M; Department for Clinical Genetics, Erasmus MC, Postbus 2040, 3000 CA Rotterdam, the Netherlands.; Willems M; Centre Hospitalier Universitaire de Montpellier, 191 av. du Doyen Giraud, 34295 Montpellier Cedex 5, France.; Sorlin A; INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21000 Dijon, France; Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, 2 Boulevard du Maréchal de Lattre de Tassigny, 21000 Dijon, France.; Delanne J; INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21000 Dijon, France; Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, 2 Boulevard du Maréchal de Lattre de Tassigny, 21000 Dijon, France.; Moutton S; INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21000 Dijon, France; CPDPN, Pôle mère enfant, Maison de Santé Protestante Bordeaux Bagatelle, 33401 Talence, France.; Christophe P; INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21000 Dijon, France; Laboratoire de génétique, Innovation en diagnostic génomique des maladies rares UF6254, Plateau Technique de Biologie, CHU Dijon, 14 rue Paul Gaffarel, BP 77908, 21079 Dijon, France.; Mau-Them FT; INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21000 Dijon, France; Laboratoire de génétique, Innovation en diagnostic génomique des maladies rares UF6254, Plateau Technique de Biologie, CHU Dijon, 14 rue Paul Gaffarel, BP 77908, 21079 Dijon, France.; Vitobello A; INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21000 Dijon, France; Laboratoire de génétique, Innovation en diagnostic génomique des maladies rares UF6254, Plateau Technique de Biologie, CHU Dijon, 14 rue Paul Gaffarel, BP 77908, 21079 Dijon, France.; Goel H; Hunter Genetics, Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia.; Massingham L; Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, RI 02905, USA.; Phornphutkul C; Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, RI 02905, USA.; Schwab J; Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, RI 02905, USA.; Keren B; Genetic Department, APHP, Sorbonne Université, Pitié-Salpêtrière Hospital, 47-83 Boulevard de l'Hôpital, 75013 Paris, France.; Charles P; Genetic Department, APHP, Sorbonne Université, Pitié-Salpêtrière Hospital, 47-83 Boulevard de l'Hôpital, 75013 Paris, France.; Vreeburg M; Department of Clinical Genetics, Maastricht UMC+, Postbus 5800, 6202 AZ Maastricht, the Netherlands.; De Simone L; UIC Pediatric Genetics, 840 South Wood Street, Chicago, IL 60612, USA.; Hoganson G; UIC Pediatric Genetics, 840 South Wood Street, Chicago, IL 60612, USA.; Iascone M; Laboratorio di genetica Medica, ASST Papa Giovanni XXIII, Bergamo 24127, Italy.; Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Pediatric Highly Intensive Care Unit, Milan, 20122, Italy.; Evenepoel L; Centre de Génétique Humaine, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Avenue Hippocrate 10-1200, Brussels, Belgium.; Revencu N; Centre de Génétique Humaine, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Avenue Hippocrate 10-1200, Brussels, Belgium.; Ward DI; Sanford Health 1600 W. 22th St, Sioux Falls, SD 57105, USA.; Burns K; Sanford Health 1600 W. 22th St, Sioux Falls, SD 57105, USA.; Krantz I; The Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.; Raible SE; The Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.; Murrell JR; The Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.; Wood K; The Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.; Cho MT; GeneDx, 207 Perry Pkwy, Gaithersburg, MD 20877, USA.; van Bokhoven H; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.; Muenke M; The Genetics Institute, Rambam Health Care Center, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.; Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.; Bodmer R; Development, Aging and Regeneration Program, Sanford Burnham Prebys Medical Discovery Institute, 10901 North Torrey Pines Rd, La Jolla, CA 92037, USA. Electronic address: rolf@sbpdiscovery.org.; de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.

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

Shieh C; David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Jones N; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.; Vanle B; Department of Psychiatry & Behavioral Neurosciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Medical College of Wisconsin-Central Wisconsin, Wausau, WI, USA.; Au M; Department of Pediatrics Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Huang AY; Institute for Precision Health, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Silva APG; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.; Lee H; Department of Human Genetics and Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Douine ED; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Otero MG; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Choi A; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Grand K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Taff IP; Department of Neurology, Hofstra School of Medicine, Great Neck, NY, USA.; Delgado MR; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center and Texas Scottish Rite Hospital for Children, Dallas, TX, USA.; Hajianpour MJ; Department of Pediatrics, Division of Medical Genetics, East Tennessee State University, Quillen College of Medicine, Mountain Home, TN, USA.; Seeley A; Geisinger Medical Center, Danville, PA, USA.; Rohena L; Division of Genetics, Department of Pediatrics, Brooke Army Medical Center, Fort Sam Houston, TX, USA.; Department of Pediatrics, UT Health San Antonio, Long School of Medicine, San Antonio, TX, USA.; Vernon H; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Balitmore, MD, USA.; Gripp KW; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, DE, USA.; Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.; Mahida S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.; Naidu S; Department of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD, USA.; Hugo Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA.; Sousa AB; Serviço de Genética Médica, Hospital Santa Maria, CHULN, Lisboa, Portugal and Faculdade de Medicina de Lisboa, Universidade de Lisboa, Lisboa, Portugal.; Wain KE; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.; Challman TD; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.; Beek G; Children's Hospitals and Clinics of Minnesota Department of Genetics, Minneapolis, MN, USA.; Basel D; Department of Pediatrics, Division of Genetics; Children's Hospital of Wisconsin, Milwaukee, WI, USA.; Ranells J; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, FL, USA.; Smith R; Department of Pediatrics, Division of Genetics, Maine Medical Center, Portland, ME, USA.; Yusupov R; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FlL, USA.; Freckmann ML; Royal North Shore Hospital, St Leonards, NSW, Australia.; Ohden L; Department of Genetic Counseling, Sanford Children's Specialty Clinic, Sioux Falls, SD, USA.; Davis-Keppen L; Department of Pediatrics, Sanford School of Medicine of the University of South Dakota, Sioux Falls, SD, USA.; Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Dowling JJ; Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; Finkel R; Division of Pediatric Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL, USA.; Dauber A; Division of Endocrinology, Children's National Health System, Washington, DC, USA.; Spillmann R; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.; Pena LDM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Metcalfe K; Manchester Centre for Genomic Medicine, Manchester University NHS FT, Manchester, UK.; Splitt M; Institute of Genetic Medicine, Northern Genetics Service, Newcastle upon Tyne Hospitals Trust, Newcastle, UK.; Lachlan K; Faculty of Medicine, University of Southampton, Southampton, UK.; Human Development and Health Division, Wessex Clinical Genetics Service, University Hospitals of Southampton NHS Trust, Southampton, UK.; McKee SA; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.; Hurst J; Department of Clinical Genetics, NE Thames Genetics Service, Great Ormond Street Hospital, London, UK.; Fitzpatrick DR; Medical Research Council Human Genetics Unit, University of Edinburgh, Edinburgh, UK.; Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK.; Cox H; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK.; Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.; Young JI; John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Marsh ED; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Nelson SF; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Martinez JA; Department of Human Genetics; Division of Medical Genetics, Department of Pediatrics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Graham JM Jr; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospital NHS Foundation Trust, Oxford, UK.; Mackay JP; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.; Pierson TM; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.

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

Shieh C; David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Jones N; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.; Vanle B; Department of Psychiatry & Behavioral Neurosciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Medical College of Wisconsin-Central Wisconsin, Wausau, WI, USA.; Au M; Department of Pediatrics Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Huang AY; Institute for Precision Health, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Silva APG; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.; Lee H; Department of Human Genetics and Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Douine ED; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Otero MG; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Choi A; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Grand K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Taff IP; Department of Neurology, Hofstra School of Medicine, Great Neck, NY, USA.; Delgado MR; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center and Texas Scottish Rite Hospital for Children, Dallas, TX, USA.; Hajianpour MJ; Department of Pediatrics, Division of Medical Genetics, East Tennessee State University, Quillen College of Medicine, Mountain Home, TN, USA.; Seeley A; Geisinger Medical Center, Danville, PA, USA.; Rohena L; Division of Genetics, Department of Pediatrics, Brooke Army Medical Center, Fort Sam Houston, TX, USA.; Department of Pediatrics, UT Health San Antonio, Long School of Medicine, San Antonio, TX, USA.; Vernon H; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Balitmore, MD, USA.; Gripp KW; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, DE, USA.; Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.; Mahida S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.; Naidu S; Department of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD, USA.; Hugo Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA.; Sousa AB; Serviço de Genética Médica, Hospital Santa Maria, CHULN, Lisboa, Portugal and Faculdade de Medicina de Lisboa, Universidade de Lisboa, Lisboa, Portugal.; Wain KE; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.; Challman TD; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.; Beek G; Children's Hospitals and Clinics of Minnesota Department of Genetics, Minneapolis, MN, USA.; Basel D; Department of Pediatrics, Division of Genetics, Children's Hospital of Wisconsin, Milwaukee, WI, USA.; Ranells J; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, FL, USA.; Smith R; Department of Pediatrics, Division of Genetics, Maine Medical Center, Portland, ME, USA.; Yusupov R; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FlL, USA.; Freckmann ML; Royal North Shore Hospital, St Leonards, NSW, Australia.; Ohden L; Department of Genetic Counseling, Sanford Children's Specialty Clinic, Sioux Falls, SD, USA.; Davis-Keppen L; Department of Pediatrics, Sanford School of Medicine of the University of South Dakota, Sioux Falls, SD, USA.; Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Dowling JJ; Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; Finkel R; Division of Pediatric Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL, USA.; Dauber A; Division of Endocrinology, Children's National Health System, Washington, DC, USA.; Spillmann R; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.; Pena LDM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Metcalfe K; Manchester Centre for Genomic Medicine, Manchester University NHS FT, Manchester, UK.; Splitt M; Institute of Genetic Medicine, Northern Genetics Service, Newcastle upon Tyne Hospitals Trust, Newcastle, UK.; Lachlan K; Faculty of Medicine, University of Southampton, Southampton, UK.; Human Development and Health Division, Wessex Clinical Genetics Service, University Hospitals of Southampton NHS Trust, Southampton, UK.; McKee SA; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.; Hurst J; Department of Clinical Genetics, NE Thames Genetics Service, Great Ormond Street Hospital, London, UK.; Fitzpatrick DR; Medical Research Council Human Genetics Unit, University of Edinburgh, Edinburgh, UK.; Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK.; Cox H; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK.; Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.; Young JI; John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Marsh ED; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Nelson SF; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Martinez JA; Department of Human Genetics; Division of Medical Genetics, Department of Pediatrics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Graham JM Jr; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospital NHS Foundation Trust, Oxford, UK.; Mackay JP; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.; Pierson TM; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: PubMed not MEDLINE; MEDLINE

Fiordaliso SK; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Iwata-Otsubo A; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Ritter AL; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Quesnel-Vallières M; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Fujiki K; Laboratory of Genome Structure and Function, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo 113-8657, Japan.; Nishi E; Division of Medical Genetics, Nagano Children's Hospital, Azumino 399-8205, Japan.; Hancarova M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine and University Hospital Motol, Charles University, Prague 15006, Czech Republic.; Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.; Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Edbaston, Birmingham B15 2TG, UK.; Lee S; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul 03080, Republic of Korea.; Hackmann K; Institute for Clinical Genetics, TU Dresden, Dresden 01307, Germany.; Bando M; Laboratory of Genome Structure and Function, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo 113-8657, Japan.; Masuda K; Laboratory of Genome Structure and Function, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo 113-8657, Japan.; Nakato R; Laboratory of Genome Structure and Function, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo 113-8657, Japan.; Arakawa M; Division of Medical Genetics, Nagano Children's Hospital, Azumino 399-8205, Japan.; Bhoj E; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Hakonarson H; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Takeda R; Division of Medical Genetics, Nagano Children's Hospital, Azumino 399-8205, Japan.; Harr M; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Keena B; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Zackai EH; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka 594-1101, Japan.; Mizuno S; Department of Clinical Genetics, Central Hospital, Aichi Developmental Disability Center, Aichi 480-0304, Japan.; Ko JM; Department of Pediatrics, Seoul National University College of Medicine, Seoul 03080, Republic of Korea.; Valachova A; Department of Medical Genetics, University Hospital Trencin, Trencin 91171, Slovakia.; Prchalova D; Department of Biology and Medical Genetics, 2nd Faculty of Medicine and University Hospital Motol, Charles University, Prague 15006, Czech Republic.; Vlckova M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine and University Hospital Motol, Charles University, Prague 15006, Czech Republic.; Pippucci T; Medical Genetics Unit, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna 40138, Italy.; Seiler C; Zebrafish Core Facility, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul 03080, Republic of Korea; Department of Pediatrics, Seoul National University College of Medicine, Seoul 03080, Republic of Korea.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.; Di Donato N; Institute for Clinical Genetics, TU Dresden, Dresden 01307, Germany.; Barash Y; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Sedlacek Z; Department of Biology and Medical Genetics, 2nd Faculty of Medicine and University Hospital Motol, Charles University, Prague 15006, Czech Republic.; Shirahige K; Laboratory of Genome Structure and Function, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo 113-8657, Japan.; Izumi K; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Laboratory of Rare Disease Research, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo 113-8657, Japan. Electronic address: izumik1@email.chop.edu.

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

Zhou W; Department of Medicine, Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston, TX, USA.; He Y; USDA/ARS Children's Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Rehman AU; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; New York Genome Center, New York, NY, USA.; Kong Y; Department of Medicine, Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston, TX, USA.; Hong S; Department of Medicine, Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston, TX, USA.; Department of Chemistry, Chung-Ang University, Seoul, South Korea.; Ding G; Department of Medicine, Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston, TX, USA.; Yalamanchili HK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Wan YW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Neurological Research Institute, Department of Pediatrics, Texas Children's Hospital, Houston, TX, USA.; Paul B; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, USA.; Wang C; Department of Medicine, Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston, TX, USA.; Gong Y; Department of Medicine, Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston, TX, USA.; Zhou W; Department of Biostatistics, Indiana University School of Medicine, Indianapolis, IN, USA.; Liu H; Department of Biostatistics, Indiana University School of Medicine, Indianapolis, IN, USA.; Dean J; Clinical Genetics Service, NHS Grampian, Aberdeen, Scotland, UK.; Scalais E; Pediatric Neurology, Centre Hospitalier de, Luxembourg, Luxembourg.; O'Driscoll M; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK.; Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK.; Hou X; Department of Endocrinology, Qilu Hospital of Shandong University, Jinan, China.; Wu Q; USDA/ARS Children's Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Tong Q; Center for Metabolic and Degenerative Disease, Institute of Molecular Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA.; Liu Z; Jan and Dan Duncan Neurological Research Institute, Department of Pediatrics, Texas Children's Hospital, Houston, TX, USA.; Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. pengfeil@bcm.edu.; Xu Y; USDA/ARS Children's Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. yongx@bcm.edu.; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, USA. yongx@bcm.edu.; Sun Z; Department of Medicine, Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston, TX, USA. zheng.sun@bcm.edu.; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, USA. zheng.sun@bcm.edu.

Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9809671 Publication Model: Print Cited Medium: Internet ISSN: 1546-1726 (Electronic) Linking ISSN: 10976256 NLM ISO Abbreviation: Nat Neurosci Subsets: PubMed not MEDLINE; MEDLINE

Zhou W; Department of Medicine, Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston, TX, USA.; He Y; USDA/ARS Children's Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Rehman AU; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; New York Genome Center, New York, NY, USA.; Kong Y; Department of Medicine, Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston, TX, USA.; Hong S; Department of Medicine, Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston, TX, USA.; Department of Chemistry, Chung-Ang University, Seoul, South Korea.; Ding G; Department of Medicine, Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston, TX, USA.; Yalamanchili HK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Wan YW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Neurological Research Institute, Department of Pediatrics, Texas Children's Hospital, Houston, TX, USA.; Paul B; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, USA.; Wang C; Department of Medicine, Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston, TX, USA.; Gong Y; Department of Medicine, Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston, TX, USA.; Zhou W; Department of Biostatistics, Indiana University School of Medicine, Indianapolis, IN, USA.; Liu H; Department of Biostatistics, Indiana University School of Medicine, Indianapolis, IN, USA.; Dean J; Clinical Genetics Service, NHS Grampian, Aberdeen, Scotland, UK.; Scalais E; Pediatric Neurology, Centre Hospitalier de, Luxembourg, Luxembourg.; O'Driscoll M; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK.; Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK.; Hou X; Department of Endocrinology, Qilu Hospital of Shandong University, Jinan, China.; Wu Q; USDA/ARS Children's Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Tong Q; Center for Metabolic and Degenerative Disease, Institute of Molecular Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA.; Liu Z; Jan and Dan Duncan Neurological Research Institute, Department of Pediatrics, Texas Children's Hospital, Houston, TX, USA.; Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. pengfeil@bcm.edu.; Xu Y; USDA/ARS Children's Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. yongx@bcm.edu.; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, USA. yongx@bcm.edu.; Sun Z; Department of Medicine, Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston, TX, USA. zheng.sun@bcm.edu.; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, USA. zheng.sun@bcm.edu.

Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9809671 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1726 (Electronic) Linking ISSN: 10976256 NLM ISO Abbreviation: Nat Neurosci Subsets: MEDLINE

Twigg, SRF; Matsumoto, K; Kidd, AMJ; Goriely, A; Taylor, IB; Fisher, RB; Hoogeboom, AJM; Mathijssen, IMJ; Lourenco, MT; Morton, JEV; Sweeney, E; Wilson, LC; Brunner, HG; Mulliken, JB; Wall, SA; Wilkie, AOM

AMERICAN JOURNAL OF HUMAN GENETICS; JUN 2006, 78 6, p999-p1010, 12p.

Giunta C; Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland.; Baumann M; Department of Pediatrics I, Pediatric Neurology, Medical University of Innsbruck, Innsbruck, Austria.; Fauth C; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.; Lindert U; Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland.; Abdalla EM; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Brady AF; Ehlers-Danlos Syndrome, National Diagnostic Service, Northwick Park and St. Mark's Hospitals, Harrow, UK.; Collins J; Mercy Clinic Pediatric Neurology, Springfield, Missouri, and Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Dastgir J; Pediatric Neurology, Goryeb Children's Hospital, Morristown, New Jersey, USA.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.; Ghali N; Ehlers-Danlos Syndrome, National Diagnostic Service, Northwick Park and St. Mark's Hospitals, Harrow, UK.; Johnson DS; Ehlers Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital, Sheffield, UK.; Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.; Koch J; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria.; Kraenzlin M; Medical Faculty of the University of Basel, and Clinic for Endocrinology, Diabetes & Metabolism, University Hospital Basel, Basel, Switzerland.; Lahiri N; South West Thames Regional Genetics Service, St. George's University Hospitals NHS Foundation Trust, UK.; Lozic B; Department of Pediatrics University Hospital Centre Split, Split, Croatia.; Manzur AY; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, Great Ormond Street Hospital, London, UK.; Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK.; Pilch J; Department of Pediatric Neurology, Medical University of Silesia, Katowice, Poland.; Pollitt RC; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Schreiber G; Department of Pediatric Neurology, Children's Hospital, Kassel, Germany.; Shannon NL; Nottingham Clinical Genetics Service, Nottingham City Hospital, Nottingham, UK.; Sobey G; Ehlers Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital, Sheffield, UK.; Vandersteen A; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada.; van Dijk FS; Ehlers-Danlos Syndrome, National Diagnostic Service, Northwick Park and St. Mark's Hospitals, Harrow, UK.; Witsch-Baumgartner M; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.; Zschocke J; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.; Pope FM; North West Thames Regional Genetics Service, Kennedy Galton Centre, London, UK.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.; Rohrbach M; Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland.

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