부산대학교 도서관

Borowka J; Master of Science in Genetic Counseling Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Crowley TB; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Mani A; Master of Science in Genetic Counseling Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Guinta V; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; McGinn DE; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Wang B; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Green A; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Rockart L; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Tran O; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Emanuel BS; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Zackai EH; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Dugoff L; Department of Obstetrics and Gynecology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Valverde K; Master of Science in Genetic Counseling Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; McDonald-McGinn DM; Master of Science in Genetic Counseling Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Gaynor, J.William ; Gerdes, Marsha ; Zackai, Elaine H ; Bernbaum, Judy ; Wernovsky, Gil ; Clancy, Robert R ; Newman, Mark F ; Saunders, Ann M ; Heagerty, Patrick J ; D'Agostino, Jo Ann ; McDonald-McGinn, Donna ; Nicolson, Susan C ; Spray, Thomas L ; Jarvik, Gail P

In The Journal of Thoracic and Cardiovascular Surgery 2003 126(6):1736-1745

Clericuzio, Carol L ; Chen, Emily; McNeil, Dawn Elizabeth; O'Connor, Timothy; Zackai, Elaine H; Medne, Livija; Tomlinson, Gail; DeBaun, Michael

In The Journal of Pediatrics 2003 143(2):270-272

Uguen K; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale, CHU de Brest, Brest, France.; Centre de Référence Déficience Intellectuelle et Polyhandicap de causes rares, CHU de Brest, Brest, France.; Bergot T; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Currently in the Division of Structural Biology, The Institute of Cancer Research, London, England.; Scott-Boyer MP; CHU de Québec-Laval University Research Center, Quebec City, QC, Canada.; Chapalain S; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Desdouets C; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Commet S; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Zhu C; Center for Brain Repair and Rehabilitation, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden.; Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Institute of Neuroscience and Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.; Xu Y; Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Institute of Neuroscience and Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.; Wang Y; Institutes of Biomedical Sciences and Children's Hospital, Fudan University, Shanghai, China.; Roscioli T; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Neuroscience Research Australia (NeuRA), University of New South Wales Sydney, Sydney, NSW, Australia.; Tran-Mau-Them F; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire-Inserm UMR1231, équipe GAD, Dijon, France.; Faivre L; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Centre de référence Déficiences Intellectuelles de Causes Rares, et Centre de référence GénoPsy, Dijon, France.; Maraval J; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Centre de référence Déficiences Intellectuelles de Causes Rares, et Centre de référence GénoPsy, Dijon, France.; Delanne J; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Centre de référence Déficiences Intellectuelles de Causes Rares, et Centre de référence GénoPsy, Dijon, France.; Denommé-Pichon AS; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire-Inserm UMR1231, équipe GAD, Dijon, France.; Vitobello A; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire-Inserm UMR1231, équipe GAD, Dijon, France.; Jost C; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Centre de référence Déficiences Intellectuelles de Causes Rares, et Centre de référence GénoPsy, Dijon, France.; Planes M; Service de Génétique Médicale, CHU de Brest, Brest, France.; Centre de Référence Déficience Intellectuelle et Polyhandicap de causes rares, CHU de Brest, Brest, France.; Hiatt S; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.; Wheeler P; Division of Genetics, Arnold Palmer Hospital for Children-Orlando Health, Orlando, FL, USA.; Gonzaga-Jauregui C; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, México.; Wang H; DDC Clinic for Special Needs Children, Middlefield, OH, USA.; Xin B; DDC Clinic for Special Needs Children, Middlefield, OH, USA.; Sency V; DDC Clinic for Special Needs Children, Middlefield, OH, USA.; Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ, USA.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ, USA.; Sulem P; deCODE Genetics/Amgen, Inc, Reykjavik, Iceland.; Curry C; Genetic Medicine, University of California, San Francisco, Fresno, CA, USA.; Prescott T; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Strobl-Wildemann G; Department of Human Genetics, MVZ Humangenetik Ulm, Ulm, Germany.; Brunet T; Institute of Human Genetics, Klinikum Rechts der Isar, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Doco Fenzy M; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Courtin T; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, Paris, France.; Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Département de Génétique, DMU BioGeM, Paris, France.; Poirsier C; Département de génétique médicale, CHU Reims, Reims, France.; Bjørg Hammer T; Department of Epilepsy Genetics and Personalized Treatment, The Filadelfia Danish Epilepsy Centre, Dianalund, Denmark.; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Fenger CD; Department of Epilepsy Genetics and Personalized Treatment, The Filadelfia Danish Epilepsy Centre, Dianalund, Denmark.; MacPherson M; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Alberta Health Services, Edmonton, AB, Canada.; Izumi K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Leonard J; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Li D; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Glass IA; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Ward S; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Campeau PM; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC, Canada.; Borroto MCH; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC, Canada.; Le Moigno L; Service de Pédiatrie et Unité d'Urgence Pédiatrique, Centre Hospitalier de Cornouaille, Quimper, France.; Van Esch H; Center for Human Genetics, University Hospitals Leuven, Herestraat 49, Leuven, Belgium.; De Waele L; Department of Child Neurology, University Hospitals Leuven, Herestraat 49, Leuven, Belgium.; Calame DG; Section of Pediatric Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Barcia G; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Peduto C; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Planté-Bordeneuve P; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Dupuis L; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.; Mendoza-Londono R; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.; Stavropoulos DJ; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.; Gillibert-Duplantier J; VECT'UB, TBMCore, CNRS UAR 3427, INSERM US005, Université de Bordeaux, Bordeaux, France.; Besnard T; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Do Souto Ferreira L; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Cogné B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Bézieau S; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Droit A; CHU de Québec-Laval University Research Center, Quebec City, QC, Canada.; Department of Molecular Medicine, Faculty of Medicine, Laval University, Quebec City, QC, Canada.; Corcos L; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Lippert E; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service d'hématologie biologique, CHU de Brest, Brest, France.; CRB Santé du CHU de Brest, Brest, France.; Férec C; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Küry S; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Bernard DG; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France. delphine.bernard@univ-brest.fr.; CRB Santé du CHU de Brest, Brest, France. delphine.bernard@univ-brest.fr.

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

Pastor S; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA. Electronic address: pastors@email.chop.edu.; Tran O; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Lapointe R; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Olali AZ; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA; Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA.; Wallace DC; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA; Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA.; Morrow B; Albert Einstein College of Medicine, Bronx, NY.; Zackai EH; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.; McDonald-McGinn DM; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.; Emanuel BS; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.

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

McElhinney, Doff B ; Jacobs, Ian ; McDonald-McGinn, Donna M ; Zackai, Elaine H ; Goldmuntz, Elizabeth

In International Journal of Pediatric Otorhinolaryngology 2002 66(1):23-27

McElhinney, Doff B ; Clark, Bernard J, III ; Weinberg, Paul M ; Kenton, Maura L ; McDonald-McGinn, Donna ; Driscoll, Deborah A ; Zackai, Elaine H ; Goldmuntz, Elizabeth

In Journal of the American College of Cardiology 15 June 2001 37(8):2114-2119

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

Solot, Cynthia B ; Gerdes, Marsha ; Kirschner, Richard E ; McDonald-McGinn, Donna M ; Moss, Edward ; Woodin, Michael ; Aleman, David ; Zackai, Elaine H ; Wang, Paul P

In Genetics in Medicine January 2001 3(1):67-71

Gerdes, Marsha ; Solot, Cynthia ; Wang, Paul P ; McDonald-McGinn, Donna M ; Zackai, Elaine H

In Genetics in Medicine January 2001 3(1):40-44

Mcdonald-Mcginn, Donna M ; Tonnesen, Melissa K ; Laufer-Cahana, Ayala ; Finucane, Brenda ; Driscoll, Deborah A ; Emanuel, Beverly S ; Zackai, Elaine H

In Genetics in Medicine January 2001 3(1):23-29

Solot, Cynthia B ; Knightly, Carol ; Handler, Steven D ; Gerdes, Marsha ; Mcdonald-Mcginn, Donna M ; Moss, Edward ; Wang, Paul ; Cohen, Marilyn ; Randall, Peter ; Larossa, Don ; Driscoll, Deborah A ; Emanuel, Beverly S ; Zackai, Elaine H

In Journal of Communication Disorders 2000 33(3):187-204

Arganbright J; Division of Pediatric Otolaryngology, Children's Mercy Hospital, Kansas, Missouri, U.S.A.; University of Missouri-Kansas City School of Medicine, Kansas, Missouri, U.S.A.; Crowley TB; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.; Tracy M; Division of Pediatric Otolaryngology, Children's Mercy Hospital, Kansas, Missouri, U.S.A.; Noel-MacDonnell J; University of Missouri-Kansas City School of Medicine, Kansas, Missouri, U.S.A.; Health Services and Outcomes Research, Children's Mercy Hospital, Kansas, Missouri, U.S.A.; Gaiser K; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.; Yaktine L; Division of Hearing and Speech, Children's Mercy Hospital, Kansas, Missouri, U.S.A.; Moore A; Division of Hearing and Speech, Children's Mercy Hospital, Kansas, Missouri, U.S.A.; Hamm J; Division of Hearing and Speech, Children's Mercy Hospital, Kansas, Missouri, U.S.A.; Morrow B; Albert Einstein Collect of Medicine, Bronx, New York, U.S.A.; Song H; Albert Einstein Collect of Medicine, Bronx, New York, U.S.A.; Giunta V; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.; McGinn DE; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.; Zackai EH; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.; Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, U.S.A.; Emanuel B; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.; Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, U.S.A.; Elden L; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.; Department of Surgery, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, U.S.A.; Division of Otolaryngology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.; Narayanan S; University of Missouri-Kansas City School of Medicine, Kansas, Missouri, U.S.A.; Raje N; Division of Pediatric Allergy, Asthma, & Immunology, Children's Mercy Hospital, Kansas, Missouri, U.S.A.; McDonald-McGinn DM; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.; Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, U.S.A.; Division of Human Biology and Medical Genetics, Sapienza, University, Rome, Italy.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 8607378 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-4995 (Electronic) Linking ISSN: 0023852X NLM ISO Abbreviation: Laryngoscope Subsets: MEDLINE

Iwata-Otsubo A; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Rippert AL; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Balciuniene J; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Fiordaliso SK; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Chen R; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Markose P; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Skraban CM; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Roberts Individualized Medical Genetics Center, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Gray C; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Roberts Individualized Medical Genetics Center, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Zackai EH; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Dubbs HA; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Deardorff MA; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Roberts Individualized Medical Genetics Center, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Conlin LK; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Izumi K; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Roberts Individualized Medical Genetics Center, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Nelson TJ; Department of Genetics, Pediatrics, Ob-Gyn and Women's Health, Albert Einstein College of Medicine, Bronx, New York, USA.; McGinn DE; 22q and You Center and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Crowley TB; 22q and You Center and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Rockart L; 22q and You Center and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Green A; 22q and You Center and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Giunta V; 22q and You Center and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Tran O; Department of Pediatrics, Perelman School of Medicine of the, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Miller D; Department of Genetics, Pediatrics, Ob-Gyn and Women's Health, Albert Einstein College of Medicine, Bronx, New York, USA.; Breckpot J; Department of Human Genetics KU Leuven & Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Swillen A; Department of Human Genetics KU Leuven & Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Digilio MC; Department of Medical Genetics, Bambino Gesù Hospital, Rome, Italy.; Unolt M; Department of Medical Genetics, Bambino Gesù Hospital, Rome, Italy.; Department of Maternal Infantile and Urological Sciences, La Sapienza University of Rome, Rome, Italy.; Putotto C; Department of Maternal Infantile and Urological Sciences, La Sapienza University of Rome, Rome, Italy.; Pulvirenti F; Department of Maternal Infantile and Urological Sciences, La Sapienza University of Rome, Rome, Italy.; Marino B; Department of Maternal Infantile and Urological Sciences, La Sapienza University of Rome, Rome, Italy.; Emanuel BS; Department of Pediatrics, Perelman School of Medicine of the, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Zackai EH; 22q and You Center and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine of the, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Zhang ZD; Department of Genetics, Pediatrics, Ob-Gyn and Women's Health, Albert Einstein College of Medicine, Bronx, New York, USA.; Goldmuntz E; Department of Pediatrics, Perelman School of Medicine of the, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Boot E; Advisium, 's Heeren Loo Zorggroep, Amersfoort, the Netherlands.; Department of Psychiatry and Neuropsychology, Mental Health and Neuroscience Institute (MHeNs), Maastricht University, Maastricht, the Netherlands.; The Dalglish Family 22q Clinic, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada.; Bassett AS; The Dalglish Family 22q Clinic, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada.; Clinical Genetics Research Program and Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.; Toronto General Hospital Research Institute, University Health Network, Toronto, Ontario, Canada.; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.; Morrow BE; Department of Genetics, Pediatrics, Ob-Gyn and Women's Health, Albert Einstein College of Medicine, Bronx, New York, USA.; McDonald-McGinn DM; 22q and You Center and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine of the, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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

Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. Lid2@chop.edu.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. Lid2@chop.edu.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. Lid2@chop.edu.; Matsuoka LS; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Donoghue S; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Hou C; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Strong A; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; McDonald-McGinn DM; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Whitaker L; Division of Plastic Surgery, Department of Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Taylor J; Division of Plastic Surgery, Department of Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Bhoj EJ; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Zackai EH; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

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

Verscaj, Courtney P; Velez-Bartolomei, Frances; Bodle, Ethan; Chan, Katie; Lyons, Michael J; Thorson, Willa; Tan, Wen-Hann; Rodig, Nancy; Graham, John M; Peron, Angela; Quintero-Rivera, Fabiola; Zackai, Elaine H; Thomas, Mary Ann; Stevens, Cathy A; Adam, Margaret P; Bird, Lynne M; Jones, Marilyn C; Matalon, Dena R

Prenatal Diagnosis. 44:237-246

Nomakuchi TT; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Teferedegn EY; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Li D; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Muirhead KJ; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Dubbs H; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Leonard J; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Muraresku C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Sergio E; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Arnold K; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Pizzino A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Wang K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Ganetzky RD; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Vanderver AL; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Ahrens-Nicklas RC; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Bhoj EJK; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, 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

Nisbet AF; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Viswanathan A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; George AM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Arias P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium.; Klein SD; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Nevado J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium.; Parra A; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium.; Pascual P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium.; Romeo DJ; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Plastic, Reconstructive and Oral Surgery, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Tenorio-Castaño J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium.; Taylor JA; Division of Plastic, Reconstructive and Oral Surgery, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Lapunzina P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium.; Kalish JM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics and Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 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

Crowley TB; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Campbell I; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Arulselvan A; Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Friedman D; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Geoffrion TR; Department of Surgery, Children's Wisconsin, Milwaukee, WI, USA.; Division of Cardiothoracic Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Witmer C; Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Gaynor JW; Division of Cardiothoracic Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; McDonald-McGinn DM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Sapienza University, Rome, Italy.; Lambert MP; Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

Publisher: Informa Healthcare Country of Publication: England NLM ID: 9208117 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1369-1635 (Electronic) Linking ISSN: 09537104 NLM ISO Abbreviation: Platelets Subsets: MEDLINE