부산대학교 도서관

Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France. sebastien.kury@chu-nantes.fr.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France. sebastien.kury@chu-nantes.fr.; Stanton JE; Bernal Institute, University of Limerick, Limerick, Ireland.; Department of Biological Sciences, University of Limerick, Limerick, Ireland.; van Woerden GM; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; ENCORE Center of Expertise for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; Bosc-Rosati A; Institut de Pharmacologie et de Biologie Structurale (IPBS), Université de Toulouse (UT), Toulouse, France.; Infrastructure Nationale de Protéomique, ProFI, UAR, Toulouse, France.; Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Bray L; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Oloudé M; Nantes Université, CHU Nantes, INSERM, Center for Research in Transplantation and Translational Immunology, UMR 1064, Nantes, France.; Rosenfelt C; Department of Pediatrics, University of Alberta, Edmonton, AB, Canada.; Scott-Boyer MP; Centre de recherche du CHU de Québec-Université Laval, Québec, QC, Canada.; Most V; Institute for Drug Discovery, Medical Faculty, Leipzig University, Leipzig, Germany.; Wang T; Department of Medical Genetics, Center for Medical Genetics, Peking University Health Science Center, Beijing, China.; Neuroscience Research Institute, Peking University; Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing, China.; Autism Research Center, Peking University Health Science Center, Beijing, China.; Papendorf JJ; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany.; de Konink C; ENCORE Center of Expertise for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Vignard V; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Studencka-Turski M; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany.; Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Hajdukowicz AM; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany.; Thiel FG; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany.; Wolfgramm S; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany.; Florenceau L; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Cuinat S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Marsac S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Verrès Y; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Dangoumau A; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Poirier L; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Wentzensen IM; GeneDx, LLC, Gaithersburg, MD, USA.; Tuttle A; GeneDx, LLC, Gaithersburg, MD, USA.; Forster C; Loyola University Chicago, Chicago, IL, USA.; Striesow J; Leibniz Institute for Plasma Science and Technology (INP), Greifswald, Germany.; Golnik R; Department of Computer Science and Interdisciplinary Center for Bioinformatics, Bioinformatics Group, Universität Leipzig, Leipzig, Germany.; Ortiz D; UPMC Children's Hospital of Pittsburgh, One Children's Hospital Drive, Pittsburgh, PA, USA.; Jenkins L; UPMC Children's Hospital of Pittsburgh, One Children's Hospital Drive, Pittsburgh, PA, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics Laboratory, Houston, TX, USA.; Ziegler A; Department of Medical Genetics, University Hospital of Toulouse, Toulouse, France.; Houdayer C; Service de Génétique médicale, CHU Angers, Angers, France.; Bonneau D; Service de Génétique médicale, CHU Angers, Angers, France.; Mitovasc, UMR CNRS 6015, INSERM U1083, Angers University, Angers, France.; Torti E; GeneDx, LLC, Gaithersburg, MD, USA.; Begtrup A; GeneDx, LLC, Gaithersburg, MD, USA.; Monaghan KG; GeneDx, LLC, Gaithersburg, MD, USA.; Mullegama SV; GeneDx, LLC, Gaithersburg, MD, USA.; Volker-Touw CMLN; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; van Gassen KLI; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; Oegema R; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; de Pagter MS; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; Steindl K; Institute of Medical Genetics, University of Zürich, Zurich, Switzerland.; Rauch A; Institute of Medical Genetics, University of Zürich, Zurich, Switzerland.; University Children's Hospital Zurich, Zurich, Switzerland.; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, Zurich, Switzerland.; University of Zurich Research Priority Program AdaBD: Adaptive Brain Circuits in Development and Learning, Zurich, Switzerland.; Ivanovski I; Institute of Medical Genetics, University of Zürich, Zurich, Switzerland.; McDonald K; Norton Children's Medical Group, University of Louisville School of Medicine, Louisville, KY, USA.; Boothe E; University of Mississippi Medical Center, Jackson, MS, USA.; Dauber A; Division of Endocrinology, Children's National Hospital and Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA.; Baker J; Department of Medical Genetics and Genomics, Children's Minnesota, Minneapolis, MN, USA.; Fabie NAV; Department of Medical Genetics and Genomics, Children's Minnesota, Minneapolis, MN, USA.; Bernier RA; Department of Psychiatry & Behavioral Sciences, Center on Human Development and Disability, University of Washington, Seattle, WA, USA.; Turner TN; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.; Srivastava S; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Dies KA; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Swanson LC; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Costin C; Department of Genetics, Akron Children's Hospital, One Perkins Square, Akron, OH, USA.; Abdulrazak A; Division of Genetics, Department of Pediatrics, West Virginia University School of Medicine, One Medical Center Drive, Morgantown, WV, USA.; Jobling RK; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY, USA.; Clinical Genetics, NYU Orthopedic Hospital, New York, NY, USA.; Rabin R; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY, USA.; Niyazov D; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Chun-Hui Tsai A; Department of Pediatrics, College of Medicine, University of Illinois, Chicago, IL, USA.; Kovak K; Department of Molecular and Medical Genetics, Oregon Health and Sciences University, OHSU, Portland, OR, USA.; Beck DB; Division of Rheumatology, Department of Medicine, New York University Grossman School of Medicine, New York, NY, USA.; Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, USA.; Malicdan MCV; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Adams DR; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Wolfe L; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Ganetzky RD; Mitochondrial Medicine Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.; Muraresku CC; Mitochondrial Medicine Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Babikyan D; Department of Medical Genetics, Yerevan State Medical University after Mkhitar Heratsi, Yerevan, Armenia.; Laboratory of Molecular Genetics, Center of Medical Genetics and Primary Health Care, Yerevan, Armenia.; Sedláček Z; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Hančárová M; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Timberlake AT; Wyss Department of Plastic Surgery, NYU Langone Medical Center, New York, NY, USA.; Saif HA; Department of Human and Molecular Genetics, Division of Clinical Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.; Department of Pediatrics, Division of Clinical Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.; Nestler B; Department of Human and Molecular Genetics, Division of Clinical Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.; King K; Department of Human and Molecular Genetics, Division of Clinical Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.; Hajianpour MJ; Division of Medical Genetics and Genomics, Department of Pediatrics, Albany Medical College, Albany, NY, USA.; Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Prendergast D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada.; Li C; McMaster University Medical Center, Hamilton, ON, Canada.; Geneviève D; Université Montpellier, Inserm U 1183, Centre de référence maladies rares anomalies du développement, Service de génétique médicale, Hôpital Arnaud de Villeneuve, Montpellier, France.; Vitobello A; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Sorlin A; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est et FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon, Dijon, France.; Philippe C; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Harel T; Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Toker O; Department of Pediatrics, Allergy and Clinical Immunology Unit, Shaare Zedek Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Sabir A; Clinical Genetics Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.; Lim D; Clinical Genetics Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.; Hamilton MJ; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.; Bryson LJ; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.; Cleary E; South East Scotland Genetics Service, Western General Hospital, Edinburgh, UK.; Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK.; UK Dementia Research Institute at University of Edinburgh, University of Edinburgh, Edinburgh, UK.; Weber S; Service de Génétique Médicale, Hôpital Armand-Trousseau, APHP, Sorbonne Université, Paris, France.; Hoffman TL; Department of Genetics, Southern California Kaiser Permanente Medical Group, Anaheim, CA, USA.; Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Tizzano EF; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Gómez-Andrés D; Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Codina-Solà M; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Ververi A; Department of Genetics for Rare Diseases, 'Papageorgiou' General Hospital, Thessaloniki, Greece.; Pavlidou E; Department of Speech and Language Therapy, University Hospital of Ioannina, Ioannina, Greece.; Lambropoulos A; Genetic Unit, 1st Department of Obstetrics and Gynecology, School of Medicine, Aristotle University of Thessaloniki, 'Papageorgiou' General Hospital, Thessaloniki, Greece.; Garganis K; Epilepsy Unit, St Luke's Hospital, Thessaloniki, Greece.; Rio M; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.; Levy J; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Multi-site medical biology laboratory SeqOIA-FMG2025, Paris, France.; Langas SJ; Division of Genetics, Genomics and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; McRae AM; Division of Genetics, Genomics and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Lessard MK; Division of Medical Genetics, Department of Specialised Medicine, McGill University Health Centre, Department of Human Genetics, McGill University, Montreal, QC, Canada.; D'Agostino MD; Division of Medical Genetics, Department of Specialised Medicine, McGill University Health Centre, Department of Human Genetics, McGill University, Montreal, QC, Canada.; De Bie I; Division of Medical Genetics, Department of Specialised Medicine, McGill University Health Centre, Department of Human Genetics, McGill University, Montreal, QC, Canada.; Wegler M; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Kamphausen SB; Institute of Human Genetics, University Hospital Magdeburg, University Hospital Magdeburg, Magdeburg, Germany.; Bothe V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Olinger E; Center for Human Genetics, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.; Sznajer Y; Center for Human Genetics, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.; Wiame E; Center for Human Genetics, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.; Thompson ML; Department of Pathology and Immunology, Division of Laboratory and Genomic Medicine, Washington University School of Medicine in Saint Louis, St. Louis, MO, USA.; Schroeder MC; Department of Pathology and Immunology, Division of Laboratory and Genomic Medicine, Washington University School of Medicine in Saint Louis, St. Louis, MO, USA.; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.; Gooch C; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University in St Louis, St. Louis, MO, USA.; Smith RA; Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina Health, Chapel Hill, NC, USA.; Pandya A; Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina Health, Chapel Hill, NC, USA.; Busch LM; Universitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, Greifswald, Germany.; Völker U; Universitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, Greifswald, Germany.; Hammer E; Universitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, Greifswald, Germany.; Wende K; Leibniz Institute for Plasma Science and Technology (INP), Greifswald, Germany.; Cogné B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Meiler J; Institute for Drug Discovery, Medical Faculty, Leipzig University, Leipzig, Germany.; Department of Chemistry, Department of Pharmacology, Center for Structural Biology, Institute of Chemical Biology, Center for Applied Artificial Intelligence in Protein Dynamics, Vanderbilt University, Nashville, TN, USA.; Ripoll C; ICV-iPS core facility, Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Bigou S; ICV-iPS core facility, Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Laumonnier F; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.; Hildebrand PW; Institut für Medizinische Physik und Biophysik, Universität Leipzig, Medizinische Fakultät, Leipzig, Germany.; Charité Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Physics and Biophysics, Berlin, Germany.; Berlin Institute of Health, Berlin, Germany.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.; McWalter K; GeneDx, LLC, Gaithersburg, MD, USA.; Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Roux-Dalvai F; Centre de recherche du CHU de Québec-Université Laval, Québec, QC, Canada.; Elgersma Y; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; ENCORE Center of Expertise for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.; Marcoux J; Institut de Pharmacologie et de Biologie Structurale (IPBS), Université de Toulouse (UT), Toulouse, France.; Infrastructure Nationale de Protéomique, ProFI, UAR, Toulouse, France.; Bousquet MP; Institut de Pharmacologie et de Biologie Structurale (IPBS), Université de Toulouse (UT), Toulouse, France.; Infrastructure Nationale de Protéomique, ProFI, UAR, Toulouse, France.; Droit A; Centre de recherche du CHU de Québec-Université Laval, Québec, QC, Canada.; Département de médecine moléculaire, Faculté de médecine, Université Laval, 2325 rue de l'Université, Québec, QC, Canada.; Poschmann J; Nantes Université, CHU Nantes, INSERM, Center for Research in Transplantation and Translational Immunology, UMR 1064, Nantes, France.; Grabrucker AM; Bernal Institute, University of Limerick, Limerick, Ireland.; Department of Biological Sciences, University of Limerick, Limerick, Ireland.; Health Research Institute (HRI), University of Limerick, Limerick, Ireland.; Bolduc FV; Department of Pediatrics, University of Alberta, Edmonton, AB, Canada.; Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB, Canada.; Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.; Bézieau S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France. stephane.bezieau@chu-nantes.fr.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France. stephane.bezieau@chu-nantes.fr.; Ebstein F; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France. frederic.ebstein@univ-nantes.fr.; Krüger E; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany. elke.krueger@uni-greifswald.de.

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

Canavati C; Department of Developmental Biology and Cancer Research, Institute of Medical Research - Israel-Canada, The Hebrew University of Jerusalem, Jerusalem, 9112102, Israel; Hereditary Research Laboratory, Bethlehem University, Bethlehem, Palestine.; Oppebøen M; Division of Pediatrics and Adolescent Medicine, Oslo University Hospital, 0450 Oslo and Faculty of Medicine, University of Oslo, Oslo, Norway.; Verma R; Department of Developmental Biology and Cancer Research, Institute of Medical Research - Israel-Canada, The Hebrew University of Jerusalem, Jerusalem, 9112102, Israel.; Misceo D; Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.; Frengen E; Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.; Salvador CL; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.; Martínez-Gil N; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain; Medicine Genetics Group, Vall Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain; Medicine Genetics Group, Vall Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; Strømme P; Division of Pediatrics and Adolescent Medicine, Oslo University Hospital, 0450 Oslo and Faculty of Medicine, University of Oslo, Oslo, Norway.; Marthinsen PB; Deparment of Radiology, Oslo University Hospital-Rikshospitalet, Oslo, Norway.; Costa-Roger M; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain; Medicine Genetics Group, Vall Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; Gómez-Andrés D; Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain.; Vázquez E; Department of Pediatric Radiology. Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Kulseth MA; Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.; Strand ME; Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.; Bjørnstad PM; Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.; Sundaram AYM; Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.; Nyman TA; Department of Immunology, University of Oslo and Oslo University Hospital, Sognsvannsveien 20, 0372 Oslo, Norway.; Server A; Deparment of Radiology, Oslo University Hospital-Rikshospitalet, Oslo, Norway.; Backe PH; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway; Department of Microbiology, Oslo University Hospital HF, Rikshospitalet, Oslo, Norway.; Rofe DS; Department of Developmental Biology and Cancer Research, Institute of Medical Research - Israel-Canada, The Hebrew University of Jerusalem, Jerusalem, 9112102, Israel.; Mellul A; Department of Developmental Biology and Cancer Research, Institute of Medical Research - Israel-Canada, The Hebrew University of Jerusalem, Jerusalem, 9112102, Israel.; Zahdeh F; Fuld Family Medical Genetics Institute and the Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem, 91031, Israel.; Renbaum P; Fuld Family Medical Genetics Institute and the Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem, 91031, Israel.; Tizzano EF; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain; Medicine Genetics Group, Vall Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; Levy-Lahad E; Fuld Family Medical Genetics Institute and the Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem, 91031, Israel; Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, 9112102, Israel.; Kanaan M; Hereditary Research Laboratory, Bethlehem University, Bethlehem, Palestine.; Aden PK; Division of Pediatrics and Adolescent Medicine, Oslo University Hospital, 0450 Oslo and Faculty of Medicine, University of Oslo, Oslo, Norway.; Tabach Y; Department of Developmental Biology and Cancer Research, Institute of Medical Research - Israel-Canada, The Hebrew University of Jerusalem, Jerusalem, 9112102, Israel. Electronic address: tabachy@gmail.com.

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

van der Laan L; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Karimi K; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada.; Rooney K; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Alders M; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Brusco A; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, Italy.; Lasa-Aranzasti A; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Spain and Medicine Genetics Group, Vall Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; Brunetti-Pierri N; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy.; Cueto-Gonzalez AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; DuPont BR; Greenwood Genetic Center, Greenwood, SC, USA.; Cappuccio G; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Naples, Italy.; Dubourg C; Service de Génétique Moléculaire et Génomique, CHU Rennes, Université de Rennes, CNRS, INSERM, IGDR, UMR 6290, Rennes, France.; Everman D; Greenwood Genetic Center, Greenwood, SC, USA.; Gatinois V; Département de génétique moléculaire et cytogénomique, Université de Montpellier, Plateforme ChromoStem, Unité de génétique Chromosomique, CHU de Montpellier, Montpellier, France.; Ganne B; Département de génétique moléculaire et cytogénomique, Université de Montpellier, Plateforme ChromoStem, Unité de génétique Chromosomique, CHU de Montpellier, Montpellier, France.; Genevieve D; Montpellier University, Inserm U1183, Montpellier, France.; Department of Medical Genetics, Reference center for rare disease developmental anomaly malformative syndrome, Montpellier Hospital, Montpellier, France.; Ferrero GB; Department of Medical Sciences, University of Torino, Torino, Italy.; Kempers M; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Levy MA; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada.; Niceta M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Orlando V; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Odent S; Service de Génétique Clinique, Centre de Référence Anomalies Du Développement CLAD- Ouest, Université de Rennes, CNRS, IGDR (Institut de Génétique et Développement de Rennes), UMR 6290, ERL U1305, ERN ITHACA, Rennes, France.; Patterson WG; Greenwood Genetic Center, Greenwood, SC, USA.; Polstra AM; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Roscioli T; Neuroscience Research Australia (NeuRA), Sydney, NSW, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Ruiz-Pallares N; Laboratoire de Génétique des Maladies Rares et Autoinflammatoires, CHU Montpellier, Montpellier, France.; Sabbagh Q; Montpellier University, Inserm U1183, Montpellier, France.; Trajkova S; Department of Medical Sciences, University of Torino, Torino, Italy.; Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Tedder MA; Greenwood Genetic Center, Greenwood, SC, USA.; Toutain A; Department of Genetics, Tours University Hospital, UMR 1253, iBrain, Inserm, University of Tours, Tours, France.; Koehler U; Medical Genetics Center (MGZ), Munich, Germany.; Valenzuela I; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; van Hagen JM; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; van der Kevie-Kersemaekers AM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Henneman P; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Mannens MMAM; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Sadikovic B; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada. bekim.sadikovic@lhsc.on.ca.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada. bekim.sadikovic@lhsc.on.ca.; van Haelst MM; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. m.vanhaelst@amsterdamumc.nl.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands. m.vanhaelst@amsterdamumc.nl.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, The Netherlands. m.vanhaelst@amsterdamumc.nl.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

van der Laan L; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands; Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Relator R; Verspeeten Clinical Genome Centre, London Health Science Centre, London, Canada.; Valenzuela I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Barcelona, Spain and Medicine Genetics Research Group, VHIR, Barcelona, Spain.; Mul AN; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands; Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Alders M; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands; Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Levy MA; Verspeeten Clinical Genome Centre, London Health Science Centre, London, Canada.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Science Centre, London, Canada.; Rzasa J; Verspeeten Clinical Genome Centre, London Health Science Centre, London, Canada.; Cueto-González AM; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Barcelona, Spain and Medicine Genetics Research Group, VHIR, Barcelona, Spain.; Lasa-Aranzasti A; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Barcelona, Spain and Medicine Genetics Research Group, VHIR, Barcelona, Spain.; Cea-Arestin C; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Barcelona, Spain and Medicine Genetics Research Group, VHIR, Barcelona, Spain.; Mannens MMAM; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands; Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; van Haelst MM; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands; Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, The Netherlands; Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands.; Tizzano EF; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Barcelona, Spain and Medicine Genetics Research Group, VHIR, Barcelona, Spain.; Sadikovic B; Verspeeten Clinical Genome Centre, London Health Science Centre, London, Canada; Department of Pathology and Laboratory Medicine, Western University, London, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca.; Henneman P; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands; Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands. Electronic address: p.henneman@amsterdamumc.nl.

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

Mehrjoo Y; Maisonneuve-Rosemont Hospital Research Center, Montreal, Québec, Canada.; Molecular Biology Program, Université de Montréal, Montreal, Québec, Canada.; Campeau PM; CHU Sainte-Justine, Montreal, Québec, Canada.; Department of Medicine, Université de Montréal, Montreal, Québec, Canada.; Al Abdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Aldowaish A; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Abouyousef O; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Codina-Solà M; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; Wurtele H; Maisonneuve-Rosemont Hospital Research Center, Montreal, Québec, Canada.; Department of Medicine, Université de Montréal, Montreal, Québec, Canada.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Ji L; Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, and.; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.; Yan J; Institute for Regenerative Medicine, State Key Laboratory of Cardiology and Medical Innovation Center, Shanghai East Hospital, Frontier Science Center for Stem Cell Research, School of Life Sciences and Technology, Tongji University, Shanghai, China.; Losurdo NA; Department of Neurobiology, The University of Utah, Salt Lake City, Utah, USA.; Wang H; The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China.; Clinical Medical Research Center for Hereditary Birth Defects and Rare Diseases in Hunan Province, Changsha, China.; Liu L; Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, and.; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.; Li K; Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, and.; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.; Liu Z; Department of Medical Genetics and.; National Health Commission Key Laboratory for Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China.; Guo Z; Institute for Regenerative Medicine, State Key Laboratory of Cardiology and Medical Innovation Center, Shanghai East Hospital, Frontier Science Center for Stem Cell Research, School of Life Sciences and Technology, Tongji University, Shanghai, China.; Xu J; Institute for Regenerative Medicine, State Key Laboratory of Cardiology and Medical Innovation Center, Shanghai East Hospital, Frontier Science Center for Stem Cell Research, School of Life Sciences and Technology, Tongji University, Shanghai, China.; Bibo A; Department of Neurobiology, The University of Utah, Salt Lake City, Utah, USA.; Ren D; Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, and.; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.; Yang K; Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, and.; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.; Luo Y; Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, and.; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.; Yang F; Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, and.; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.; Wang G; Institute for Regenerative Medicine, State Key Laboratory of Cardiology and Medical Innovation Center, Shanghai East Hospital, Frontier Science Center for Stem Cell Research, School of Life Sciences and Technology, Tongji University, Shanghai, China.; Xiang Z; Institute for Regenerative Medicine, State Key Laboratory of Cardiology and Medical Innovation Center, Shanghai East Hospital, Frontier Science Center for Stem Cell Research, School of Life Sciences and Technology, Tongji University, Shanghai, China.; Wang Y; Institute for Regenerative Medicine, State Key Laboratory of Cardiology and Medical Innovation Center, Shanghai East Hospital, Frontier Science Center for Stem Cell Research, School of Life Sciences and Technology, Tongji University, Shanghai, China.; Zhan H; Institute for Regenerative Medicine, State Key Laboratory of Cardiology and Medical Innovation Center, Shanghai East Hospital, Frontier Science Center for Stem Cell Research, School of Life Sciences and Technology, Tongji University, Shanghai, China.; Pan H; Department of Medical Genetics and.; National Health Commission Key Laboratory for Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China.; Hu J; Department of Medical Genetics and.; National Health Commission Key Laboratory for Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China.; Zhong J; Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Zacher P; Kleinwachau Epilepsy Center, Radeberg, Germany.; Musante L; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' Trieste, Italy.; Faletra F; Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale, Udine, Italy.; Department of Medicine, University of Udine, Udine, ltaly.; Costa P; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' Trieste, Italy.; Zanus C; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' Trieste, Italy.; Couque N; Department of Genetics, AP-HP-Robert Debré University Hospital, Paris, France.; Laboratoire de Biologie Médicale Multisite SeqOIA, Sorbonne University, Paris, France.; Ruaud L; Department of Genetics, AP-HP-Robert Debré University Hospital, Paris, France.; Laboratoire de Biologie Médicale Multisite SeqOIA, Sorbonne University, Paris, France.; Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; San Nicolas Fernández H; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; Tizzano E; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; Martinez Gil N; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; Liu X; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China.; Liao W; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China.; Abi Farraj L; Department of Pathology and Laboratory Medicine and.; Huang AY; Department of Pathology and Laboratory Medicine and.; Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.; Zhang L; Department of Pathology and Laboratory Medicine and.; Murali A; Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.; Schmuel E; Comprehensive Maternal-Fetal Medicine Center, Thousand Oaks, California, USA.; Han CS; Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.; King K; Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, Virginia, USA.; Department of Human and Molecular Genetics, School of Medicine, Virginia Commonwealth University, Richmond, Virginia, USA.; Gu W; Chigene (Beijing) Translational Medical Research Center Co. Ltd., Beijing, China.; Wang P; Chigene (Beijing) Translational Medical Research Center Co. Ltd., Beijing, China.; Li K; Department of Neurology and Suzhou Clinical Research Center of Neurological Disease, The Second Affiliated Hospital of Soochow University, Suzhou, China.; Link N; Department of Neurobiology, The University of Utah, Salt Lake City, Utah, USA.; He G; Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, and.; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.; National Health Commission Key Laboratory for Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China.; Bian S; Institute for Regenerative Medicine, State Key Laboratory of Cardiology and Medical Innovation Center, Shanghai East Hospital, Frontier Science Center for Stem Cell Research, School of Life Sciences and Technology, Tongji University, Shanghai, China.; National Health Commission Key Laboratory for Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China.; China Regional Research Centre, International Centre for Genetic Engineering and Biotechnology, Taizhou, China.; Mao X; Department of Medical Genetics and.; National Health Commission Key Laboratory for Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Díaz-González F; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario la Paz, UMA, Madrid, Spain.; Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.; European Research Network on Rare BONe Disorders (ERN-BOND).; Parrón-Pajares M; Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.; European Research Network on Rare BONe Disorders (ERN-BOND).; Department of Radiology, Hospital Universitario La Paz, Madrid, Spain.; Lucas-Castro E; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario la Paz, UMA, Madrid, Spain.; Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.; European Research Network on Rare BONe Disorders (ERN-BOND).; Modamio-Høybjør S; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario la Paz, UMA, Madrid, Spain.; Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.; European Research Network on Rare BONe Disorders (ERN-BOND).; Sentchordi-Montané L; Department of Pediatrics, Hospital Universitario Infanta Leonor, Madrid, Spain.; Department of Pediatrics, Universidad Complutense, Madrid, Spain.; Seidel V; Clinical Genetics Section, Department of Pediatrics, Hospital Universitario Gregorio Marañón, Madrid, Spain.; Prieto P; Department of Pediatrics, Hospital Universitario Clínico Salamanca and Biomedical Research Institute of Salamanca (IBSAL), Salamanca, Spain.; Tarraso-Urios G; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medical Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Codina-Sola M; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medical Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Cueto-González AM; European Research Network on Rare BONe Disorders (ERN-BOND).; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medical Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Ballesta-Martínez MJ; European Research Network on Rare BONe Disorders (ERN-BOND).; Medical Genetics Section, Department of Pediatrics, Hospital Universitario Virgen de la Arrixaca, IMIB, Murcia, Spain.; CIBERER, ISCIII, Madrid, Spain.; Santos-Simarro F; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario la Paz, UMA, Madrid, Spain.; Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.; European Research Network on Rare BONe Disorders (ERN-BOND).; CIBERER, ISCIII, Madrid, Spain.; Department of Molecular diagnostics & Clinical Genetics, Hospital Universitario Son Espases, Palma, Mallorca, Spain.; Sousa SB; European Research Network on Rare BONe Disorders (ERN-BOND).; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar & Universitário de Coimbra, Coimbra, Portugal.; Heath KE; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario la Paz, UMA, Madrid, Spain.; Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.; European Research Network on Rare BONe Disorders (ERN-BOND).; CIBERER, ISCIII, Madrid, Spain.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Lacombe D; Department of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France didier.lacombe@chu-bordeaux.fr.; Bloch-Zupan A; Faculté de Chirurgie Dentaire, Université de Strasbourg, and Centre de référence des maladies rares orales et dentaires, Hôpitaux Universitaires de Strasbourg, Strasbourg, and Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, Illkirch, France.; Bredrup C; Department of Clinical Medicine, University of Bergen, 5020 Bergen, Norway.; Cooper EB; Department of Anesthesiology, Cincinnati Children's Hospital, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Houge SD; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway and Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; García-Miñaúr S; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, Spain.; Kayserili H; Department of Medical Genetics, Koc University School of Medicine (KUSOM), 34010 Istanbul, Turkey.; Larizza L; Laboratorio di Ricerca in Citogenetica medica e Genetica Molecolare, Centro di Ricerche e Tecnologie Biomediche IRCCS-Istituto Auxologico Italiano, Milano, Italy.; Lopez Gonzalez V; Department of Pediatrics, Medical Genetics Section, Virgen de la Arrixaca University Hospital, IMIB, CIBERER, Murcia, Spain.; Menke LA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Milani D; Fondazione IRCCS, Ca'Granda Ospedale Maggiore, 20122 Milan, Italy.; Saettini F; Fondazione Matilde Tettamanti Menotti De Marchi Onlus, Fondazione Monza e Brianza per il Bambino e la sua Mamma, Monza, Italy.; Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA.; Tooke L; Department of Pediatrics, Groote Schuur Hospital, University of Cape Town, Cape Town, South Africa.; Van der Zee JA; Department of Pediatric Urology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Van Genderen MM; Bartiméus Diagnostic Center for complex visual disorders, Zeist and Department of Ophthalmology, University Medical Center Utrecht, Utrecht, Netherlands.; Van-Gils J; Department of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France.; Waite J; School of Psychology, College of Health and Life Sciences, Aston University, Birmingham, UK.; Adrien JL; Université de Paris, Laboratoire de Psychopathologie et Processus de Santé, Boulogne Billancourt, France.; Bartsch O; MVZ - Humangenetik, University Medical Center, Johannes Gutenberg University Mainz, 55131 Mainz, Germany.; Bitoun P; Département de Genetique, SIDVA 91, Juvisy-sur-Orge, France.; Bouts AHM; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Cueto-González AM; Department of Clinical and Molecular Genetics, University Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Dominguez-Garrido E; Molecular Diagnostics Laboratory, Fundacion Rioja Salud, La Rioja, Spain.; Duijkers FA; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Fergelot P; Department of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France.; Halstead E; Psychology and Human Development Department, University College London, London, UK.; Huisman SA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Zodiak, Prinsenstichting, Purmerend, Netherlands.; Meossi C; Fondazione IRCCS, Ca'Granda Ospedale Maggiore, 20122 Milan, Italy.; Mullins J; Rubinstein-Taybi Syndrome Support Group, Registered Charity, Rickmansworth, UK.; Nikkel SM; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Oliver C; School of Psychology, University of Birmingham, Edgbaston, UK.; Prada E; Fondazione IRCCS, Ca'Granda Ospedale Maggiore, 20122 Milan, Italy.; Rei A; Associazione Rubinstein-Taybi Syndrome-Una Vita Speciale, Organizzazione di Volontariato (ODV), Gornate Olona, Varese, Italy.; Riddle I; Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.; Rodriguez-Fonseca C; Asociación Española para el Sindrome de Rubinstein-Taybi (AESRT), Madrid, Spain.; Rodríguez Pena R; Immunology, Hospital Universitario La Paz, IdiPaz, Madrid, Spain.; Russell J; Associazione Rubinstein-Taybi Syndrome-Una Vita Speciale, Organizzazione di Volontariato (ODV), Gornate Olona, Varese, Italy.; Saba A; French RTS Support Group, Paris, France.; Santos-Simarro F; Unit of Molecular Diagnostics and Clinical Genetics, Hospital Universitari Son Espases, Health Research Institute of the Balearic Islands (IdISBa), Palma, Spain.; Simpson BN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, Cincinnati School of Medicine, Cincinnati, Ohio, USA.; Smith DF; Department of Pediatric Otolaryngology, Cincinnati Children's Hospital Medical Center, and Department of Otolaryngology - Head and Neck Surgery, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Stevens MF; Department of Anesthesiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Szakszon K; Institution of Pediatrics, University of Debrecen Clinical Centre, Debrecen, Hungary.; Taupiac E; Department of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France.; Totaro N; Associazione Rubinstein-Taybi Syndrome-Una Vita Speciale, Organizzazione di Volontariato (ODV), Gornate Olona, Varese, Italy.; Valenzuena Palafoll I; Department of Clinical and Molecular Genetics, University Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Van Der Kaay DCM; Division of Paediatric Endocrinology, Department of Paediatrics, Erasmus University Medical Centre, Sophia Children's Hospital, Rotterdam, The Netherlands.; Van Wijk MP; Department of Pediatric Gastroenterology, Emma Children's Hospital, Amsterdam UMC, University Amsterdam, Amsterdam, Netherlands.; Vyshka K; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Robert Debré University Hospital, Paris, France.; Wiley S; Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.; Hennekam RC; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.

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

Szot JO; Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia.; Slavotinek A; Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.; Chong K; Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, Ontario, Canada.; Brandau O; SYNLAB MVZ Humangenetik Mannheim, Mannheim, Germany.; Nezarati M; Genetics Program, North York General Hospital, Toronto, Ontario, Canada.; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.; Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Patel MS; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Devine WP; Department of Anatomic Pathology, University of California, San Francisco, California, USA.; Rego S; Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.; Acyinena AP; Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.; Shannon P; Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.; Myles-Reid D; Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, Ontario, Canada.; Blaser S; The Hospital for Sick Children, Toronto, Ontario, Canada.; Mieghem TV; Fetal Medicine Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, Ontario, Canada.; Yavuz-Kienle H; SYNLAB MVZ Humangenetik Mannheim, Mannheim, Germany.; Skladny H; SYNLAB MVZ Humangenetik Mannheim, Mannheim, Germany.; Miller K; Genetics Program, North York General Hospital, Toronto, Ontario, Canada.; Riera MDT; Metabolic Unit and Pediatric Neurology Department, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Martínez SA; Fetal Medicine Unit and Obstetrics Department, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Tizzano EF; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; Dupuis L; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; James Stavropoulos D; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; McNiven V; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Mendoza-Londono R; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Elliott AM; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Phillips RS; Department of Biochemistry and Molecular Biology, University of Georgia, Athens, Georgia, USA.; Department of Chemistry, University of Georgia, Athens, Georgia, USA.; Chapman G; Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia.; Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.; Dunwoodie SL; Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia.; Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.; Faculty of Science, University of New South Wales, Sydney, New South Wales, Australia.

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

Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall d´Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; European Reference Network Craniofacial Anomalies and ENT disorders (ERN CRANIO)(member) and ERN ITHACA (affiliated), Barcelona, Spain.; Fernández-Cancio M; Pediatric Endocrinology Unit, Vall d´Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.; Fernández-Alvarez P; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall d´Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; García-Arumí E; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.; Neuromuscular and Mitochondrial Pathology Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; Tizzano EF; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall d´Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; European Reference Network Craniofacial Anomalies and ENT disorders (ERN CRANIO)(member) and ERN ITHACA (affiliated), Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101652445 Publication Model: eCollection Cited Medium: Print ISSN: 2054-345X (Print) Linking ISSN: 2054345X NLM ISO Abbreviation: Hum Genome Var Subsets: PubMed not MEDLINE

Grenier C; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.; Lopes FM; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.; Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Catalonia, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; Rovira-Moreno E; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Catalonia, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; Gander R; Department of Pediatric Surgery, Pediatric Urology and Renal Transplant Unit, University Hospital Vall D'Hebron Barcelona, Hospital Vall D'Hebron, Barcelona, Spain.; Jarvis BW; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.; McCloskey KD; Patrick G. Johnston Center for Cancer Research, School of Medicine, Dentistry and Biomedical Sciences, Queen's University Belfast, Belfast, UK.; Gurney AM; Division of Pharmacy and Optometry, School of Health Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.; Beaman GM; Manchester Center for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester Academic Health Science Center, Manchester, UK.; Division of Evolution, Infection and Genomics, Faculty of Biology, Medicine and Human Sciences, University of Manchester, Manchester, UK.; Newman WG; Manchester Center for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester Academic Health Science Center, Manchester, UK.; Division of Evolution, Infection and Genomics, Faculty of Biology, Medicine and Human Sciences, University of Manchester, Manchester, UK.; Woolf AS; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.; Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Center, Manchester, UK.; Roberts NA; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.

Publisher: Elsevier Country of Publication: United States NLM ID: 101684752 Publication Model: eCollection Cited Medium: Internet ISSN: 2468-0249 (Electronic) Linking ISSN: 24680249 NLM ISO Abbreviation: Kidney Int Rep Subsets: PubMed not MEDLINE

Sheppard SE; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.; Bryant L; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Wickramasekara RN; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.; Molecular Diagnostic Laboratory, Boys Town National Research Hospital, Omaha, NE, USA.; Vaccaro C; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Robertson B; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.; Hallgren J; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.; Hulen J; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.; Watson CJ; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.; Faundes V; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile.; Duffourd Y; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Lee P; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Simon MC; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; de la Cruz X; Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.; Institució Catalana de Recerca I Estudis Avançats (ICREA), Barcelona, Spain.; Padilla N; Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.; Flores-Mendez M; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Akizu N; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Smiler J; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; 10x Genomics, Pleasanton, CA, USA.; Pellegrino Da Silva R; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; March M; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Diaz-Rosado A; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Peixoto de Barcelos I; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Choa ZX; Epithelial Epigenetics and Development Laboratory, ASTAR Skin Research Labs, Singapore, Singapore.; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.; Lim CY; Epithelial Epigenetics and Development Laboratory, ASTAR Skin Research Labs, Singapore, Singapore.; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.; Dubourg C; Laboratoire de Génétique Moléculaire et Génomique, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France.; Journel H; Service de Génétique Médicale, Hopital Chubert, Vannes, Bretagne, France.; Demurger F; Department of Clinical Genetics, Service de Génétique Clinique, Centre de Référence Maladies Rares Centre Labellisé Anomalies du Développement-Ouest, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France.; Mulhern M; Department of Pathology, Columbia University Irving Medical Center, New York, NY, USA.; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.; Akman C; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.; Lippa N; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Andrews M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.; Baldridge D; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.; Constantino J; Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.; Snoeck-Streef I; Department of Child Neurology, University Medical Center Utrecht, Utrecht, Netherlands.; Chow P; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.; Hing A; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.; Graham JM Jr; Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA, USA.; Au M; Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA, USA.; Faivre L; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU Dijon, Bourgogne, France.; Shen W; University of Utah, Salt Lake City, UT, USA.; Mayo Clinic, Rochester, MN, USA.; Mao R; University of Utah, Salt Lake City, UT, USA.; Palumbos J; University of Utah, Salt Lake City, UT, USA.; Viskochil D; University of Utah, Salt Lake City, UT, USA.; Gahl W; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Tifft C; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Macnamara E; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Hauser N; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA, USA.; Miller R; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA, USA.; Maffeo J; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA, USA.; Afenjar A; AP-HP, Sorbonne Université, Département de neuropediatrie, Hospital Armand Trousseau, Paris, France.; Doummar D; AP-HP, Sorbonne Université, Département de neuropediatrie, Hospital Armand Trousseau, Paris, France.; Keren B; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne Université, Paris, France.; Arn P; Department of Pediatrics, Nemours Children's Specialty Care, Jacksonville, FL, USA.; Macklin-Mantia S; Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL, USA.; Meerschaut I; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland.; Brewer C; Clinical Genetics Department, Royal Devon and Exeter Hospital (Heavitree), Exeter EX1 2ED, UK.; Saggar A; Clinical Genetics Department, St George's Hospital, St George's Healthcare NHS Trust, London SW17 0QT, UK.; Smeland MF; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.; Department of Pediatric Rehabilitation, University Hospital of North Norway, Norway.; Kumar A; Northeast Thames Regional Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK.; Elmslie F; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London SW17 0QT, UK.; Deshpande C; Department of Medical Genetics, Guy's Hospital, London SE1 9RT, UK.; Nizon M; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes CEDEX 1, France.; Cogne B; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes CEDEX 1, France.; Nantes Université, CNRS, INSERM, L'institut du thorax, F-44000 Nantes, France.; van Ierland Y; Department of Clinical Genetics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands.; Wilke M; Department of Clinical Genetics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands.; van Slegtenhorst M; Department of Clinical Genetics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands.; Koudijs S; Department of Neurology, Erasmus University Medical Center-Sophia Children's Hospital, P.O. Box 2040, 3000 CA Rotterdam, Netherlands.; Chen JY; Neurology Department, Massachusetts General Hospital, Boston, MA, USA.; Dredge D; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria.; Pier D; Neurology Department, Massachusetts General Hospital, Boston, MA, USA.; Wortmann S; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria.; Amalia Children's Hospital, RadboudUMC Nijmegen, Nijmegen, Netherlands.; Kamsteeg EJ; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria.; Koch J; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria.; Haynes D; Division of Genetics, Arnold Palmer Hospital for Children-Orlando Health, Orlando, FL, USA.; Pollack L; Division of Genetics, Arnold Palmer Hospital for Children-Orlando Health, Orlando, FL, USA.; Titheradge H; West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Trust, Birmingham B15 2TG, UK.; Ranguin K; Department of Genetics, Reference Centre for Rare Diseases and Developmental Anomalies, Caen Hospital, Caen, France.; Denommé-Pichon AS; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France.; Weber S; Department of Genetics, Reference Centre for Rare Diseases and Developmental Anomalies, Caen Hospital, Caen, France.; Pérez de la Fuente R; UDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital, Madrid, Spain.; Sánchez Del Pozo J; UDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital, Madrid, Spain.; Lezana Rosales JM; UDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital, Madrid, Spain.; Joset P; University of Zurich, Institute of Medical Genetics, 8952 Schlieren-Zurich, Switzerland.; Steindl K; University of Zurich, Institute of Medical Genetics, 8952 Schlieren-Zurich, Switzerland.; Rauch A; University of Zurich, Institute of Medical Genetics, 8952 Schlieren-Zurich, Switzerland.; University of Zurich, University Children's Hospital Zurich, 8032 Zurich, Switzerland.; University of Zurich, URPP Adaptive Brain Circuits in Development and Learning (AdaBD), Zurich, Switzerland.; University of Zurich Research Priority Program (URPP) AdaBD: Adaptive Brain Circuits in Development and Learning, Zurich 8006, Switzerland.; University of Zurich Research Priority Program (URPP) ITINERARE: Innovative Therapies in Rare Diseases, Zurich 8006, Switzerland.; Mei D; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Mari F; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Guerrini R; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Lespinasse J; UF de Génétique Chromosomique, Centre Hospitalier de Chambéry, Hôtel-dieu, France.; Tran Mau-Them F; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France.; Philippe C; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France.; Dauriat B; Service de cytogénétique et génétique médicale, Centre Hospitalier Universitaire de Limoges, France.; Raymond L; Service de génétique, Laboratoire Eurofins Biomnis, Lyon, France.; Moutton S; Service de génétique, Laboratoire Eurofins Biomnis, Lyon, France.; Cueto-González AM; Hospital Vall d'Hebron, Barcelona, Spain.; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain.; Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Mignot C; AP-HP, Sorbonne Université, Département de Génétique, Paris, France.; Grotto S; AP-HP, Sorbonne Université, Département de Génétique, Paris, France.; Renaldo F; AP-HP, Sorbonne Université, Département de neuropediatrie, Centre de référence neurogénétique, Hôpital Armand Trousseau, Paris, France.; Drivas TG; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Hennessy L; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Raper A; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Parenti I; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Kaiser FJ; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Essener Zentrum für Seltene Erkrankungen (EZSE), Universitätsklinikum Essen, Essen, Germany.; Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Islam L; West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Trust, Birmingham B15 2TG, UK.; Siedlik JA; Department of Exercise Science and Pre-Health Professions, Creighton University, Omaha, NE, USA.; Henderson LB; GeneDx, Gaithersburg, MD, USA.; Juusola J; GeneDx, Gaithersburg, MD, USA.; Person R; GeneDx, Gaithersburg, MD, USA.; Schnur RE; GeneDx, Gaithersburg, MD, USA.; Department of Pediatrics, Division of Genetics Cooper Medical School of Rowan University Cooper University Health Care 3, Cooper Plaza, Camden, NJ, USA.; Vitobello A; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France.; Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Bhoj EJ; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Stessman HAF; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: MEDLINE

Plaja A; x00C0;rea de Genx00E8;tica Clx00ED;nica i Molecular, Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Castells N; Cueto-González AM; del Campo M; Vendrell T; Lloveras E; Izquierdo L; Borregan M; Rodríguez-Santiago B; Carrió A; Miró R; Tizzano E

Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101142708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1424-859X (Electronic) Linking ISSN: 14248581 NLM ISO Abbreviation: Cytogenet Genome Res Subsets: MEDLINE

Martin-Nalda A; Pediatric Infectious Diseases and Immunodeficiencies Unit, Department of Pediatrics, Vall d'Hebron Campus Hospitalari, Barcelona, Catalonia, Spain.; Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Campus Hospitalari, Barcelona, Catalonia, Spain.; Argudo-Ramírez A; Newborn screening laboratory, Section of Congenital Errors of Metabolism, Biochemistry and Molecular Genetics Department, Hospital Clinic, Barcelona, Catalonia, Spain.; Marin-Soria JL; Newborn screening laboratory, Section of Congenital Errors of Metabolism, Biochemistry and Molecular Genetics Department, Hospital Clinic, Barcelona, Catalonia, Spain.; Martinez-Gallo M; Immunology Division, Vall d'Hebron Campus Hospitalari, Barcelona, Catalonia, Spain.; Colobran R; Department of Clinical and Molecular Genetics, Vall d'Hebron Campus Hospitalari, Barcelona, Catalonia, Spain.; Immunology Division, Vall d'Hebron Campus Hospitalari, Barcelona, Catalonia, Spain.; Plaja A; Department of Clinical and Molecular Genetics, Vall d'Hebron Campus Hospitalari, Barcelona, Catalonia, Spain.; Castells N; Department of Clinical and Molecular Genetics, Vall d'Hebron Campus Hospitalari, Barcelona, Catalonia, Spain.; Riviere J; Pediatric Infectious Diseases and Immunodeficiencies Unit, Department of Pediatrics, Vall d'Hebron Campus Hospitalari, Barcelona, Catalonia, Spain.; Tizzano EF; Department of Clinical and Molecular Genetics, Vall d'Hebron Campus Hospitalari, Barcelona, Catalonia, Spain.; CIBERER (Biomedical Research Center Network in Rare Diseases), Barcelona, Spain.; Soler-Palacin P; Pediatric Infectious Diseases and Immunodeficiencies Unit, Department of Pediatrics, Vall d'Hebron Campus Hospitalari, Barcelona, Catalonia, Spain.

Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

Castells-Sarret N; Àrea de Genètica Clínica i Molecular, Hospital Vall d'Hebron, Barcelona, España; Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, España. Electronic address: ncastellssarret@gmail.com.; Cueto-González AM; Àrea de Genètica Clínica i Molecular, Hospital Vall d'Hebron, Barcelona, España; Facultat de Medicina, Departament de Ciències Morfològiques, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, España.; Borregan M; Facultat de Medicina, Departament de Ciències Morfològiques, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, España.; López-Grondona F; Àrea de Genètica Clínica i Molecular, Hospital Vall d'Hebron, Barcelona, España.; Miró R; Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, España.; Tizzano E; Àrea de Genètica Clínica i Molecular, Hospital Vall d'Hebron, Barcelona, España; CIBERER, Barcelona, España.; Plaja A; Àrea de Genètica Clínica i Molecular, Hospital Vall d'Hebron, Barcelona, España; Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, España.

Publisher: Elsevier Country of Publication: Spain NLM ID: 101765626 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2341-2879 (Electronic) Linking ISSN: 23412879 NLM ISO Abbreviation: An Pediatr (Engl Ed) Subsets: MEDLINE

Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11211, Saudi Arabia.; Aglan M; Keppler-Noreuil K; Faqeih E; Ansari S; Horton K; Ashour A; Zaki MS; Al-Zahrani F; Cueto-González AM; Abdel-Salam G; Temtamy S; Alkuraya FS

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