부산대학교 도서관

Kohanbash G; Department of Neurological Surgery, University of Pittsburgh, Pittsburgh, PA, USA. gary.kohanbash@pitt.edu.; Department of Immunology, University of Pittsburgh, Pittsburgh, PA, USA. gary.kohanbash@pitt.edu.; Ryall S; The Arthur and Sonia Labatt Brain Tumour Research Center, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto, Toronto, ON, Canada.; Brigham and Women's Hospital, Boston, MA, USA.; Gary SE; Department of Neurological Surgery, University of Pittsburgh, Pittsburgh, PA, USA.; Hoffman LM; Division of Hematology-Oncology, Children's Hospital of Colorado, Aurora, CO, USA.; Johnson & Johnson, Phoenix, AZ, USA.; Siddaway R; Division of Pathology, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.; Bendel AE; Division of Hematology-Oncology, Children's Minnesota, Minneapolis, MN, USA.; Gripp KW; Division of Medical Genetics, Nemours Children's Health, Wilmington, DE, USA.; Walter AW; Division of Hematology-Oncology, Nemours Children's Health, Wilmington, DE, USA.; Hansford JR; Children's Cancer Centre, Royal Children's Hospital, Melbourne, Australia.; Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, Australia.; Smith AA; Division of Pediatric Hematology-Oncology, Arnold Palmer Hospital, Orlando, FL, USA.; Wang H; School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.; Skaugen JM; Department of Pathology, University of Pittsburgh, Pittsburgh, PA, USA.; Tabori U; Division of Pediatric Hematology-Oncology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; Hawkins CE; Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto, Toronto, ON, Canada.; Division of Pathology, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.; Broniscer A; Division of Pediatric Hematology-Oncology, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA. albertobroniscer5704@gmail.com.; 32 Academy Street, Arlington, MA, 02476, USA. albertobroniscer5704@gmail.com.; Servier Pharmaceuticals, Boston, MA, USA. albertobroniscer5704@gmail.com.

Publisher: Springer Country of Publication: United States NLM ID: 8309335 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-7373 (Electronic) Linking ISSN: 0167594X NLM ISO Abbreviation: J Neurooncol Subsets: MEDLINE; In Process

Gripp, Karen W ; Kasparcova, Viera ; McDonald-McGinn, Donna M ; Bhatt, Sucheta ; Bartlett, Scott P ; Storm, Andrea L ; Drumheller, Timothy C ; Emanuel, Beverly S ; Zackai, Elaine H ; Stolle, Catherine A

In Genetics in Medicine March 2001 3(2):102-108

Shepherdson, James L; Hutchison, Katie; Don, Dilan Wellalage; McGillivray, George; Choi, Tae-Ik; Allan, Carolyn A; Amor, David J; Banka, Siddharth; Basel, Donald G; Buch, Laura D; Carere, Deanna Alexis; Carroll, Renée; Clayton-Smith, Jill; Crawford, Ali; Dunø, Morten; Faivre, Laurence; Gilfillan, Christopher P; Gold, Nina B; Gripp, Karen W; Hobson, Emma; Holtz, Alexander M; Innes, A Micheil; Isidor, Bertrand; Jackson, Adam; Katsonis, Panagiotis; Amel Riazat Kesh, Leila; Genomics England Research Consortium; Küry, Sébastien; Lecoquierre, François; Lockhart, Paul; Maraval, Julien; Matsumoto, Naomichi; McCarrier, Julie; McCarthy, Josephine; Miyake, Noriko; Moey, Lip Hen; Németh, Andrea H; Østergaard, Elsebet; Patel, Rushina; Pope, Kate; Posey, Jennifer E; Schnur, Rhonda E; Shaw, Marie; Stolerman, Elliot; Taylor, Julie P; Wadman, Erin; Wakeling, Emma; White, Susan M; Wong, Lawrence C; Lupski, James R; Lichtarge, Olivier; Corbett, Mark A; Gecz, Jozef; Nicolet, Charles M; Farnham, Peggy J; Kim, Cheol-Hee; Shinawi, Marwan

Genomics England Research Consortium 2024, 'Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt', American Journal of Human Genetics, vol. 111, no. 3, pp. 487-508. https://doi.org/10.1016/j.ajhg.2024.01.007

Gripp KW; Nemours Children's Health, Wilmington, Delaware, USA.

Publisher: Lippincott Williams and Wilkins Country of Publication: United States NLM ID: 9000850 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-698X (Electronic) Linking ISSN: 10408703 NLM ISO Abbreviation: Curr Opin Pediatr Subsets: MEDLINE

Houdayer C; Service de Génétique Médicale, CHU d'Angers, Angers, France. clara.houdayer@chu-angers.fr.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France. clara.houdayer@chu-angers.fr.; Rooney K; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; van der Laan L; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Bris C; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France.; Alders M; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Bahr A; Institute of Medical Genetics, University of Zurich, 8952, Schlieren, Switzerland.; Barcia G; Université Paris Cité, Service de Médecine Génomique des Maladies Rares, INSERM UMR 1163, Institut Imagine, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Battault C; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Begemann A; Institute of Medical Genetics, University of Zurich, 8952, Schlieren, Switzerland.; Bonneau D; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France.; Bonnevalle A; Normandy University, UNIROUEN, INSERM U1245 and University Hospital of Rouen, Department of Genetics and Reference Centre for Developmental Disorders, F 76000, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Boughalem A; Laboratoire Cerba, Saint-Ouen-l'Aumone, France.; Bourges A; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Bournez M; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.; Bruel AL; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.; Buhas D; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Center, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Carallis F; Laboratoire Multisites SeqOIA, Paris, France.; Cogné B; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, F-44000, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000, Nantes, France.; Cormier-Daire V; Université Paris Cité, Service de Médecine Génomique des Maladies Rares, INSERM UMR 1163, Institut Imagine, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Delanne J; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.; Demaret T; Centre de Génétique Humaine, Institut de Pathologie et Génétique, Gosselies, Belgium.; Denommé-Pichon AS; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.; Désir J; Centre de Génétique Humaine, Institut de Pathologie et Génétique, Gosselies, Belgium.; Dubourg C; Service de Génétique Médicale, Centre Labellisé Anomalies du Développement de l'Ouest, CHU de Rennes, Rennes, France.; Fradin M; Service de Génétique Médicale, Centre Labellisé Anomalies du Développement de l'Ouest, CHU de Rennes, Rennes, France.; Geneviève D; Montpellier University, Inserm, U1183, Montpellier, France.; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.; Goel H; Hunter Genetics, Waratah, NSW, Australia.; Goldenberg A; Normandy University, UNIROUEN, INSERM U1245 and University Hospital of Rouen, Department of Genetics and Reference Centre for Developmental Disorders, F 76000, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Gripp KW; Division of Medical Genetics, Nemours/A.I. DuPont Hospital for Children, Wilmington, DE, USA.; Guichet A; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France.; Guimier A; Université Paris Cité, Service de Médecine Génomique des Maladies Rares, INSERM UMR 1163, Institut Imagine, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Jacquinet A; Department of Genetics, Sart Tilman University Hospital, Liège, Belgium.; Keren B; UF de Génétique Clinique et Centre de Référence Maladies Rares des Anomalies du Développement et Syndromes Malformatifs, ERN ITHACA, APHP.Sorbonne Université, Hôpital Armand Trousseau, Paris, France.; Legoff L; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France.; Levy MA; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada.; McConkey H; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada.; Mendelsohn BA; Department of Medical Genetics, Kaiser Oakland Medical Center, Oakland, CA, USA.; Mignot C; APHP Sorbonne Université, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.; Milon V; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Nizon M; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, F-44000, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000, Nantes, France.; Oneda B; Institute of Medical Genetics, University of Zurich, 8952, Schlieren, Switzerland.; Pasquier L; Service de Génétique Médicale, Centre Labellisé Anomalies du Développement de l'Ouest, CHU de Rennes, Rennes, France.; Patat O; Department of Genetics, University Hospital of Toulouse, Toulouse, France.; Philippe C; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.; Procaccio V; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France.; Procopio R; Division of Medical Genetics, Nemours/A.I. DuPont Hospital for Children, Wilmington, DE, USA.; Prouteau C; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Rambaud T; Laboratoire Multisites SeqOIA, Paris, France.; Rauch A; Institute of Medical Genetics, University of Zurich, 8952, Schlieren, Switzerland.; Relator R; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada.; Rondeau S; Université Paris Cité, Service de Médecine Génomique des Maladies Rares, INSERM UMR 1163, Institut Imagine, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Schleit J; Blueprint Genetics, Quest Diagnostics Company, 2505 3rd Ave, Suite 204, Seattle, WA, 98121, USA.; Sorlin A; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.; Steindl K; Institute of Medical Genetics, University of Zurich, 8952, Schlieren, Switzerland.; Tedder M; Greenwood Genetic Center, Greenwood, IN, USA.; Tessarech M; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France.; Mau-Them FT; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.; Trost D; Laboratoire Cerba, Saint-Ouen-l'Aumone, France.; Van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Vincent M; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, F-44000, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000, Nantes, France.; Whalen S; UF de Génétique Clinique et Centre de Référence Maladies Rares des Anomalies du Développement et Syndromes Malformatifs, ERN ITHACA, APHP.Sorbonne Université, Hôpital Armand Trousseau, Paris, France.; Thauvin-Robinet C; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.; Isidor B; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, F-44000, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000, Nantes, France.; Sadikovic B; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Vitobello A; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.; Colin E; Service de Génétique Médicale, CHU d'Angers, Angers, France. escolin@chu-angers.fr.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France. escolin@chu-angers.fr.

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

Nevado, Julián; Rosenfeld, Jill A; Mena, Rocío; Palomares-Bralo, María; Vallespín, Elena; Ángeles Mori, María; Tenorio, Jair A; Gripp, Karen W; Denenberg, Elizabeth; del Campo, Miguel; Plaja, Alberto; Martín-Arenas, Rubén; Santos-Simarro, Fernando; Armengol, Lluis; Gowans, Gordon; Orera, María; Sanchez-Hombre, M Carmen; Corbacho-Fernández, Esther; Fernández-Jaén, Alberto; Haldeman-Englert, Chad

European Journal of Human Genetics. Dec2015, Vol. 23 Issue 12, p1615-1626. 12p.

Patel DD; Department of Radiology, Nemours Children's Health, Wilmington, Delaware, USA.; Gripp KW; Department of Genetics, Nemours Children's Health, Wilmington, Delaware, USA.; Wadman E; Department of Genetics, Nemours Children's Health, Wilmington, Delaware, USA.; Mishra I; Department of Pediatrics, KB Bhabha Hospital, Mumbai, India.; Kandula V; Department of Radiology, Nemours Children's Health, Wilmington, Delaware, USA.

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

Patel DD; Nemours Children's Health, 1600 Rockland Rd, Wilmington, DE, 19803, United States. dhrumilrad@gmail.com.; Gripp KW; Nemours Children's Health, 1600 Rockland Rd, Wilmington, DE, 19803, United States.; Mcdunnah P; Nemours Children's Health, 1600 Rockland Rd, Wilmington, DE, 19803, United States.; Mishra I; KB Bhabha Hospital, Kurla West, Mumbai, 400070, India.; Kandula V; Nemours Children's Health, 1600 Rockland Rd, Wilmington, DE, 19803, United States.

Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0365332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1998 (Electronic) Linking ISSN: 03010449 NLM ISO Abbreviation: Pediatr Radiol Subsets: MEDLINE

Mirzaa, Ghayda M; Parry, David A; Fry, Andrew E; Giamanco, Kristin A; Schwartzentruber, Jeremy; Vanstone, Megan; Logan, Clare V; Roberts, Nicola; Johnson, Colin A; Singh, Shawn; Kholmanskikh, Stanislav S; Adams, Carissa; Hodge, Rebecca D; Hevner, Robert F; Bonthron, David T; Braun, Kees P J; Faivre, Laurence; Rivière, Jean-Baptiste; St-Onge, Judith; Gripp, Karen W

Nature Genetics. May2014, Vol. 46 Issue 5, p510-515. 6p. 3 Color Photographs, 1 Diagram, 1 Chart, 1 Graph.

Schaaf, Christian P; Gonzalez-Garay, Manuel L; Xia, Fan; Potocki, Lorraine; Gripp, Karen W; Zhang, Baili; Peters, Brock A; McElwain, Mark A; Drmanac, Radoje; Beaudet, Arthur L; Caskey, C Thomas; Yang, Yaping

Nature Genetics. Nov2013, Vol. 45 Issue 11, p1405-1408. 4p.

Pierpont EI; Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA.; Bennett AM; Department of Pharmacology, Yale School of Medicine, New Haven, Connecticut, USA.; Schoyer L; RASopathies Network, Los Angeles, California, USA.; Stronach B; RASopathies Network, Los Angeles, California, USA.; Anschutz A; RASopathies Network, Los Angeles, California, USA.; Borrie SC; KU Leuven, Laboratory for the Research of Neurodegenerative Diseases, Leuven, Belgium.; Briggs B; School of Medicine, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA.; Burkitt-Wright E; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust and University of Manchester, Manchester, UK.; Castel P; Department of Biochemistry & Molecular Pharmacology, NYU Grossman School of Medicine, New York, New York, USA.; Cirstea IC; Institute of Comparative Molecular Endocrinology, Ulm University, Ulm, Germany.; Institute of Applied Physiology, Ulm University, Ulm, Germany.; Draaisma F; Department of Pediatrics, Radboud Institute for Health Sciences, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands.; Ellis M; RASopathies Network, Los Angeles, California, USA.; Fear VS; Translational Genetics, Precision Health, Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia.; Frone MN; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, Maryland, USA.; Flex E; Department of Oncology and Molecular Medicine, Instituo Superiore di Sanità, Rome, Italy.; Gelb BD; Mindich Child Health and Development Institute and the Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine, New York, New York, USA.; Green T; Division of Interdisciplinary Brain Sciences, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, California, USA.; Gripp KW; Division of Medical Genetics, Department of Pediatrics, Nemours Children's Hospital, Orlando, Florida, USA.; Khoshkhoo S; Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Kieran MW; Research and Development, Day One Biopharmaceuticals, Brisbane, California, USA.; Kleemann K; Clinic for Cardiothoracic and Vascular Surgery, University Medical Center Göttingen, Göttingen, Germany.; German Center for Cardiovascular Research (DZHK), Partner Site Göttingen, Göttingen, Germany.; Klein-Tasman BP; Department of Psychology, University of Wisconsin-Milwaukee, Milwaukee, Wisconsin, USA.; Kontaridis MI; Department of Biomedical Research and Translational Medicine, Masonic Medical Research Institute, Utica, New York, USA.; Division of Cardiology, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, Massachusetts, USA.; Kruszka P; GeneDx, Gaithersburg, Maryland, USA.; Leoni C; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A.Gemelli, IRCCS, Rome, Italy.; Liu CZ; Mindich Child Health and Development Institute and the Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine, New York, New York, USA.; Merchant N; Division of Endocrinology, Children's National Hospital, Washington, DC, USA.; Magoulas PL; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.; Moertel C; Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA.; Prada CE; Division of Genetics, Genomics, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.; Rauen KA; Department of Pediatrics, Division of Genomic Medicine, University of California, Davis, Davis, California, USA.; Roelofs R; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.; Rossignol R; Rare Diseases, Genetics and Metabolism, University of Bordeaux, Bordeaux, France.; Sevilla C; Parent Advocate, CFC Syndrome, Lombard, Illinois, USA.; Sevilla G; Self Advocate, CFC Syndrome, Lombard, Illinois, USA.; Sheedy R; Parent Advocate, Costello Syndrome, Centerton, Arkansas, USA.; Stieglitz E; Department of Pediatrics, Benioff Children's Hospital, University of California, Oakland, California, USA.; Sun D; Cancer Biology & Genetics Program, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Tiemens D; Department of Pediatrics, Radboud Institute for Health Sciences, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands.; White F; Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.; Wingbermühle E; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.; Wolf C; Department of Pediatric Cardiology and Congenital Heart Disease, German Heart Center Munich, Technical University Munich, Munich, Germany.; Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.; Andelfinger G; Department of Anatomy and Cell Biology, McGill School of Biomedical Sciences, Montreal, Quebec, Canada.

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

Rivière, Jean-Baptiste; Mirzaa, Ghayda M; O'Roak, Brian J; Beddaoui, Margaret; Alcantara, Diana; Conway, Robert L; St-Onge, Judith; Schwartzentruber, Jeremy A; Gripp, Karen W; Nikkel, Sarah M; Worthylake, Thea; Sullivan, Christopher T; Ward, Thomas R; Butler, Hailly E; Kramer, Nancy A; Albrecht, Beate; Armour, Christine M; Armstrong, Linlea; Caluseriu, Oana; Cytrynbaum, Cheryl

Nature Genetics. Aug2012, Vol. 44 Issue 8, p934-940. 7p. 1 Black and White Photograph, 1 Diagram, 2 Charts, 1 Graph.

Rivière, Jean-Baptiste; van Bon, Bregje W M; Hoischen, Alexander; Kholmanskikh, Stanislav S; O'Roak, Brian J; Gilissen, Christian; Gijsen, Sabine; Sullivan, Christopher T; Christian, Susan L; Abdul-Rahman, Omar A; Atkin, Joan F; Chassaing, Nicolas; Drouin-Garraud, Valerie; Fry, Andrew E; Fryns, Jean-Pierre; Gripp, Karen W; Kempers, Marlies; Kleefstra, Tjitske; Mancini, Grazia M S; Nowaczyk, Ma?gorzata J M

Nature Genetics. Apr2012, Vol. 44 Issue 4, p440-444. 5p. 1 Color Photograph, 1 Diagram, 3 Charts, 1 Graph.

Wilcox EH; Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA.; The Warren Alpert Medical School of Brown University, Providence, RI.; Webb RF; Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA.; Tshering KC; Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA.; Hughes MY; Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA.; Cavé H; Département de Génétique, Hôpital Robert Debré (AP-HP), and Université Paris-Cité, Paris, France.; DiStefano MT; Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA.; Dziadzio H; Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA.; Garber K; Department of Human Genetics, Emory School of Medicine, Atlanta, GA.; Gelb BD; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY.; Gripp KW; Division of Medical Genetics, Nemours Children's Hospital, Wilmington, DE.; Ichikawa S; Ambry Genetics, Aliso Viejo, CA.; Lee JA; Greenwood Genetic Center, Greenwood, SC.; McCurry H; Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA.; Tartaglia M; Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Williams B; GeneDx, Gaithersburg, MD.; Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.; Vincent LM; Natera Inc, Austin, TX.; Mason-Suares H; Mass General Brigham, Laboratory for Molecular Medicine, Cambridge, MA.

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

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Division of Otolaryngology, National Center for Child Health and Development, Tokyo, Japan.; Schindler E; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Al Rawi Z; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Wallace N; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Wilde JJ; Emugen Therapeutics, Woburn, Massachusetts, USA.; McCallum J; Department of Cancer Biology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Liu J; Department of Pathology, Anatomy, and Cell Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.; Xu D; Hematologics Inc, Seattle, Washington, USA.; Jackson M; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Rentas S; Department of Pathology, Duke University School of Medicine, Durham, North Carolina, USA.; Tayoun AA; Al Jalila Genomics Center, Al Jalila Children's Hospital, Dubai, United Arab Emirates.; 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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

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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

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