Management of Genetic Syndromes

Management of Genetic Syndromes

Online ISBN: 9780471695998

DOI: 10.1002/0471695998

Editors & Contributors


CONTRIBUTORS

Deborah M. Alcorn, M.D.
Department of Ophthalmology, Stanford University Medical Center, Stanford, California

Judith E. Allanson, MB ChB, FRCP, FRCP(C), FCCMG, DABMG
Department of Pediatrics, University of Ottawa, and Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada

Agatino Battaglia, M.D.
Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Pisa, Italy

Jonathan N. Berg, M.D.
Department of Clinical Genetics, Division of Pathology and Neuroscience, Ninewells Hospital and Medical School, Dundee, United Kingdom

Leslie G. Biesecker, M.D.
Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland

John C. Carey, M.D.
Department of Pediatrics, Division of Medical Genetics, University of Utah, Health Sciences Center, Salt Lake City, Utah

Suzanne B. Cassidy, M.D.
Department of Pediatrics, Division of Human Genetics, University of California, Irvine, Orange, California

Edith J. Chernoff, M.D.
Department of Chronic Disease, La Rabida Children's Hospital, and Department of Pediatrics, University of Chicago, Chicago, Illinois

Albert E. Chudley, M.D., FRCPC, FCCMG
Section of Genetics and Metabolism, Children's Hospital, and Departments of Pediatrics, Child Health, Biochemistry, and Medical Genetics, University of Manitoba, Manitoba, Canada

Carol L. Clericuzio, M.D.
Department of Pediatrics, Division of Dysmorphology and Clinical Genetics, University of New Mexico School of Medicine, Albuquerque, New Mexico

Trevor R. P. Cole, M.D.
Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, United Kingdom

Debra L. Collins, M.S., CGC
Department of Medicine, Kansas University School of Medicine, Kansas City, Kansas

Christopher Cunniff, M.D.
Section of Medical and Molecular Genetics, University of Arizona, College of Medicine, Tucson, Arizona

Christine E. M. de-Die Smulders, M.D., Ph.D.
Department of Clinical Genetics, Academic Hospital Maastricht, Maastricht, The Netherlands

Dian Donnai, FRCP, FRCPCH, FRCOG, FmedSci
Department of Medical Genetics, University of Manchester, Manchester, United Kingdom

Peter Farndon, M.D.
Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, United Kingdom

David R. FitzPatrick, M.D., MRCP
Medical Research Council Human Genetics Unit, Edinburgh, United Kingdom

Uta Francke, M.D.
Departments of Genetics and Pediatrics, Stanford University School of Medicine, Stanford, California

Clair Francomano, M.D.
National Institute on Aging, National Institutes of Health, Bethesda, Maryland

Renata C. Gallagher, M.D., Ph.D.
Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California

Richard J. Gibbons, M.A., D. Phil., FRCP
The Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom

Robert J. Gorlin, M.S., D.D.S. D.Sc. (Hon)
Department of Oral Pathology and Genetics, University of Minnesota School of Dentistry, Minneapolis, Minnesota

John M. Graham Jr., M.D., Sc.D.
Department of Pediatrics, University of California Los Angeles, Cedars Sinai Medical Center, Los Angeles, California

Theresa A. Grebe, M.D.
Phoenix Genetics Program, University of Arizona, Phoenix, Arizona

Karen W. Gripp, M.D.
Department of Pediatrics, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, and Division of Medical Genetics, A. I. DuPont Hospital for Children, Wilmington, Delaware

Andrea L. Gropman, M.D., FAAP, FACMG
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland

Randi J. Hagerman, M.D.
Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute, University of California Davis Health System, Sacramento, California

Bryan D. Hall, M.D.
Division of Genetics/Dysmorphology, Chandler Medical Center, Lexington, Kentucky

Judith G. Hall, M.D.
Department of Pediatrics, University of British Columbia and British Columbia's Children's Hospital, Vancouver, Canada

Raoul C. M. Hennekam, M.D., Ph.D.
Department of Pediatrics and Institute of Human Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands

Leah B. Hoechstetter, M.S., CGC
Division of Human Genetics, Cincinnati Children's Hospital Research Foundation, Cincinnati, Ohio

Chris J. H&oumlweler, M.D.
Department of Neurology, Academic Hospital Maastricht, Maastricht, The Netherlands

H. Eugene Hoyme, M.D.
Department of Pediatrics, Division of Medical Genetics and California Teratogen Information Service, Stanford University School of Medicine, Stanford, California

Louanne Hudgins, M.D.
Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California

Alasdair G. W. Hunter, M.Sc., M.D., CM, FCCMG, FRCP (C)
Department of Pediatrics, University of Ottawa, and Children's Hospital of Eastern Ontario, Ottawa, Canada

Frans G. I. Jennekens, M.D.
Department of Neurology, University of Utrecht, Utrecht, The Netherlands

Marilyn C. Jones, M.D.
Department of Pediatrics, University of California, San Diego, and Cleft Palate and Craniofacial Treatment Programs, Children's Hospital, San Diego, California

Binita M. Kamath, M.D.
Division of Gastroenterology and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania

Bronwyn Kerr, MBBS, FRACP, FRCPCH
Regional Genetic Service, Central Manchester and Manchester Children's Hospitals University NHS Trust, Manchester, United Kingdom

Richard A. King, M.D., Ph.D.
Institute of Human Genetics and Genetics Division, Department of Medicine, University of Minnesota, Minneapolis, Minnesota

Kerry Kingham, M.S.
Department of Pediatrics, Division of Medical Genetics and California Teratogen Information Service, Stanford University School of Medicine, Stanford, California

Antonie D. Kline, M.D.
Harvey Institute for Human Genetics, Baltimore, Maryland

Ian D. Krantz, M.D.
Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia and The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania

Anne D. Letocha, M.S.N., C.R.N.P.
Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland

Ruth M. Liberfarb, M.D., Ph.D.
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland

Angela E. Lin, M.D.
Genetics and Teratology Unit, Pediatric Service, Massachusetts General Hospital, Boston, Massachusetts

Sally E. Longstaffe, M.D., FRCPC
Child Development Clinic, Children's Hospital, and Department of Pediatrics and Child Health, University of Manitoba, Manitoba, Canada

Joan C. Marini, M.D., Ph.D.
Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland

Shawn E. McCandless, M.D.
Departments of Genetics and Pediatrics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, Ohio

Colleen A. Morris, M.D., M.S., FACMG, FAAP
Department of Pediatrics&mdashDivision of Genetics, University of Nevada School of Medicine, Las Vegas, Nevada

Maximilian Muenke, M.D.
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland

Christine A. Oley, MBBS, FRACP, FRCPH
West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham, United Kingdom

Richard M. Pauli, M.D., Ph.D.
Clinical Genetics Center, University of Wisconsin, Madison, Wisconsin

Mary C. Phelan, Ph.D.
Genetic Diagnostic Laboratory, T. C. Thompson Children's Hospital, Chattanooga, Tennessee

Mary E. M. Porteous, M.Sc., M.D., MRCP
South East Scotland Genetic Service, Edinburgh, United Kingdom

R. Curtis Rogers, M.D.
Greenwood Genetic Center, Greenwood, South Carolina

Howard M. Saal, M.D.
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio

Carole Samango-Sprouse, Ph.D.
Department of Pediatrics, George Washington University, Washington, D.C.

R. Neil Schimke, M.D., FACP, FACMG
Departments of Medicine and Pediatrics, Kansas University School of Medicine, Kansas City, Kansas

Connie T. R. M. Schrander-Stumpel, M.D., Ph.D.
Department of Clinical Genetics, Academic Hospital Maastricht, Maastricht, The Netherlands, and Research Institute Growth and Development (GROW), Maastricht University, Maastricht, The Netherlands

Iris Schrijver, M.D.
Department of Pathology, Stanford University School of Medicine, Stanford, California

Robert J. Shprintzen, Ph.D.
State University of New York Upstate Medical University, Syracuse, New York

Cheryl Shuman, M.S., CGC
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, and Department of Medical Genetics and Microbiology, University of Toronto, Ontario, Canada

Joe Leigh Simpson, M.D.
Departments of Obstetrics, Gynecology, and Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas

Anne M. Slavotinek, MBBS
Division of Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, California

Eric E. Smeets, M.D.
Department of Clinical Genetics, Academic Hospital Maastricht, Maastricht, The Netherlands, and Department of Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium

Ann C. M. Smith, M.A., D.Sc. (Hon.), CGC
Smith-Magenis Syndrome Research Unit, Medical Genetics Branch, National Human Genetics Research Institute, National Institutes of Health, Bethesda, Maryland

Gail A. Stapleton, M.S.
Greenwood Genetic Center, Greenwood, South Carolina

Roger E. Stevenson, M.D.
Greenwood Genetic Center, Greenwood, South Carolina

C. Gail Summers, M.D.
Departments of Ophthalmology and Pediatrics, University of Minnesota, Minneapolis, Minnesota

Ronald Swerdloff, M.D.
Department of Endocrinology and Metabolism, University of California Los Angeles, Research and Education Institute, Torrance, California

Virginia P. Sybert, M.D.
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington

David Viskochil, M.D., Ph.D.
Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah

Rosanna Weksberg, M.D., Ph.D., FRCPC, FACMG
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto, Ontario, Canada

Richard J. Wenstrup, M.D.
Division of Human Genetics, Cincinnati Children's Hospital Research Foundation, Cincinnati, Ohio

Douglas J. Wilkin, Ph.D.
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland

Charles A. Williams, M.D.
Departments of Pediatrics and Genetics, University of Florida College of Medicine, Gainesville, Florida

John R. W. Yates, M.D.
Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom

Elaine H. Zackai, M.D.
Department of Pediatrics, University of Pennsylvania School of Medicine, and Clinical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania

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