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A service of the U.S. National Library of Medicine® | |
Genetics Home Reference is developed by a Staff that includes board-certified medical geneticists, biologists, and computer and information scientists. The content is reviewed regularly to ensure that it is accurate and up-to-date. External expert reviewers perform a comprehensive review of each condition and gene summary before it is posted to Genetics Home Reference and every one to two years thereafter. The date of the last comprehensive review is noted at the bottom of each summary.
| Expert Reviewer | Institutional Affiliation |
|---|---|
| Margaret P. Adam, M.D. |
Emory University
Decatur, Georgia
|
| Leena M. Ala-Kokko, M.D., Ph.D. |
Connective Tissue Gene Tests
Allentown, Pennsylvania
|
| Qais Abu Ali, M.D. |
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland
|
| Judith E Allanson, M.D. |
Children's Hospital of Eastern Ontario
Ottawa, Ontario, Canada
|
| Nancy C. Andrews, M.D., Ph.D. |
Harvard Medical School
Boston, Massachusetts
|
| Kathleen S. Arnos, Ph.D. |
Gallaudet University
Washington, District of Columbia
|
| Spyros Artavanis-Tsakonas, Ph.D. |
Harvard Medical School
Boston, Massachusetts
|
| Kenneth H. Astrin, Ph.D. |
Mount Sinai School of Medicine
New York, New York
|
| Felicia B. Axelrod, M.D. |
New York University School of Medicine
New York, New York
|
| Craig T. Basson, M.D., Ph.D. |
Weill Medical College of Cornell University
New York, New York
|
| Bruce G. Bender, Ph.D. |
National Jewish Medical and Research Center
Denver, Colorado
|
| Lionel G. Bercovitch, M.D. |
Brown University School of Medicine
Stoughton, Massachusetts
|
| Leslie G. Biesecker, M.D. |
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland
|
| Thomas D. Bird, M.D. |
Veterans Administration Medical Center
Seattle, Washington
|
| Craig Blackstone, M.D., Ph.D. |
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, Maryland
|
| Carolyn A. Bondy, M.D. |
National Institute of Child Health and Human Development
National Institutes of Health
Bethesda, Maryland
|
| Stephen R. Braddock, M.D. |
University of Missouri
Columbia, Missouri
|
| Mark L. Brantly, M.D. |
University of Florida
Gainesville, Florida
|
| Xandra O. Breakefield, Ph.D. |
Massachusetts General Hospital
Charlestown, Massachusetts
|
| Robert A. Brodsky, M.D. |
Johns Hopkins Medicine
Baltimore, Maryland
|
| W. Ted Brown, M.D., Ph.D. |
Institute for Basic Research in Developmental Disabilities
Staten Island, New York
|
| Susan Burge, D.M. |
Oxford Radcliffe Hospitals
NHS Trust
Oxford, England
|
| Merlin G. Butler, M.D., Ph.D. |
University of Missouri-Kansas City School of Medicine
Kansas City, Missouri
|
| Peter H. Byers, M.D. |
University of Washington
Seattle, Washington
|
| Kathleen Calzone, R.N., M.S.N. |
National Cancer Institute
National Institutes of Health
Bethesda, Maryland
|
| John C. Carey, M.D. |
University of Utah Medical Center
Salt Lake City, Utah
|
| Rafael C. Caruso, M.D. |
National Eye Institute
National Institutes of Health
Bethesda, Maryland
|
| Suzanne B. Cassidy, M.D. |
University of California
Irvine, California
|
| Bradford W. Coffee, Ph.D. |
Emory University School of Medicine
Atlanta, Georgia
|
| M. Michael Cohen Jr., D.M.D., Ph.D. |
Dalhousie University
Halifax, Nova Scotia, Canada
|
| William I. Cohen, M.D. |
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania
|
| William E. Connor, M.D. |
Oregon Health & Science University
Portland, Oregon
|
| Mark R. Cookson, Ph.D. |
National Institute on Aging
National Institutes of Health
Bethesda, Maryland
|
| Merit E. Cudkowicz, M.D. |
Massachusetts General Hospital
Boston, Massachusetts
|
| Michael Cunningham, M.D., Ph.D. |
Center on Human Development and Disability
University of Washington
Seattle, Washington
|
| Pietro De Camilli, M.D. |
Yale University School of Medicine
New Haven, Connecticut
|
| Frederick J. de Serres, Ph.D. |
National Institute of Environmental Health Sciences
Research Triangle Park, North Carolina
|
| Michael Dean, Ph.D. |
National Cancer Institute
National Institutes of Health
Bethesda, Maryland
|
| Maria Descartes, M.D. |
University of Alabama
Birmingham, Alabama
|
| Emily Doherty, M.D. |
Carilion Pediatric Clinic
Roanoke, Virginia
|
| John P. Dormans, M.D. |
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania
|
| David C. Dries, M.D. |
University of Utah School of Medicine
Salt Lake City, Utah
|
| Hong Du, Ph.D. |
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio
|
| Barbara K. Dunn, Ph.D., M.D. |
National Cancer Institute
National Institutes of Health
Bethesda, Maryland
|
| Charis Eng, M.D., Ph.D. |
Cleveland Clinic
Cleveland, Ohio
|
| Jorge Filmus, Ph.D. |
University of Toronto
Toronto, Ontario, Canada
|
| Kevin M. Flanigan, M.D. |
University of Utah
Salt Lake City, Utah
|
| Arvan Fluharty, Ph.D. |
University of California
Los Angeles, California
|
| Karen H. Friderici, Ph.D. |
Michigan State University
East Lansing, Michigan
|
| Thomas B. Friedman, Ph.D. |
National Institute on Deafness and Other Communication Disorders
National Institutes of Health
Bethesda, Maryland
|
| William A. Gahl, M.D., Ph.D. |
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland
|
| Bruce D. Gelb, M.D. |
Mount Sinai School of Medicine
New York, New York
|
| Jonathan D. Gitlin, M.D. |
Washington University School of Medicine
St. Louis, Missouri
|
| J. Rafael Gorospe, M.D., Ph.D. |
Children's National Medical Center
Washington, District of Columbia
|
| Bruce Gottlieb, Ph.D. |
McGill University
Montreal, Quebec, Canada
|
| John M. Graham, M.D., Sc.D. |
Cedars-Sinai Medical Center
Los Angeles, California
|
| Allison Gregory, M.S. |
Oregon Health and Science University
Portland, Oregon
|
| Andrew J. Griffith, M.D., Ph.D. |
National Institute on Deafness and Other Communication Disorders
National Institutes of Health
Bethesda, Maryland
|
| Lyn Griffiths, Ph.D. |
Genomics Research Centre
Griffith University
Queensland, Australia
|
| Karen W. Gripp, M.D. |
DuPont Hospital
Wilmington, Delaware
|
| Wayne W. Grody, M.D., Ph.D. |
University of California, Los Angeles, School of Medicine
Los Angeles, California
|
| Alan E. Guttmacher, M.D. |
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland
|
| Randi J. Hagerman, M.D. |
University of California Davis Medical Center
Sacramento, California
|
| Nancy B. Hanson, M.S. |
Group Health Cooperative
Seattle, Washington
|
| Susan J. Hayflick, M.D. |
Oregon Health and Science University
Portland, Oregon
|
| Patrice Held, Ph.D. |
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland
|
| Michael Hershfield, M.D. |
Duke University Medical Center
Durham, North Carolina
|
| Richard E. Hillman, M.D. |
University of Missouri
Columbia, Missouri
|
| Julie E. Hoover-Fong, M.D. |
Johns Hopkins University
Baltimore, Maryland
|
| Kathleen Hruska, Ph.D. |
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland
|
| Keith Hyland, Ph.D. |
Medical Neurogenetics, LLC
Atlanta, Georgia
|
| Jeffrey W. Innis, M.D., Ph.D. |
University of Michigan
Ann Arbor, Michigan
|
| Joseph Jankovic, M.D. |
Baylor College of Medicine
Houston, Texas
|
| Eric W. Johnson, Ph.D. |
Prevention Genetics
Marshfield, Wisconsin
|
| Klaus H. Kaestner, Ph.D. |
University of Pennsylvania School of Medicine
Philadelphia, Pennsylvania
|
| Clifford E. Kashtan, M.D. |
University of Minnesota Medical School
Minneapolis, Minnesota
|
| Michael A. Kayser, D.O. |
Warren Clinic Center for Genetics
Center for Genetic Testing at Saint Francis
Tulsa, Oklahoma
|
| Electron Kebebew, M.D. |
University of California, San Francisco
San Francisco, California
|
| Muhammad Asim Khan, M.D. |
Case Western Reserve University
Cleveland, Ohio
|
| William J. Kimberling, Ph.D. |
Boys Town National Research Hospital
Omaha, Nebraska
|
| Robert F. Kleta, M.D., Ph.D. |
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland
|
| Antonie D. Kline, M.D. |
Greater Baltimore Medical Center
Baltimore, Maryland
|
| Bruce R. Korf, M.D., Ph.D. |
University of Alabama at Birmingham
Birmingham, Alabama
|
| Kris V. Kowdley, M.D. |
University of Washington
Seattle, Washington
|
| Donna M. Krasnewich, M.D., Ph.D. |
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland
|
| Jamie L'Heureux, M.S., C.G.C. |
University of Iowa
Iowa City, Iowa
|
| Felicitas Lacbawan, M.D. |
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland
|
| Seema R. Lalani, M.D. |
Baylor College of Medicine
Houston, Texas
|
| Brendan Lee, M.D., Ph.D. |
Baylor College of Medicine
Houston, Texas
|
| Harvey Levy, M.D. |
Children's Hospital Boston
Boston, Massachusetts
|
| Mary Linden, M.S. |
Kimball Genetics
Denver, Colorado
|
| Nicola Longo, M.D., Ph.D. |
University of Utah
Salt Lake City, Utah
|
| James Loyd, M.D. |
Vanderbilt University Medical Center
Nashville, Tennessee
|
| Anne W. Lucky, M.D. |
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio
|
| Henry T. Lynch, M.D. |
Creighton University School of Medicine
Omaha, Nebraska
|
| Michael J. Lyons, M.D. |
Greenwood Genetic Center
Greenwood, South Carolina
|
| Anne C. Madeo, M.S. |
National Institute on Deafness and Other Communication Disorders
National Institutes of Health
Bethesda, Maryland
|
| Danny Manor, Ph.D. |
Case Western Reserve University
Cleveland, Ohio
|
| Douglas A. Marchuk, Ph.D. |
Duke University Medical Center
Durham, North Carolina
|
| Thomas C. Markello, M.D., Ph.D. |
Children's National Medical Center
Washington, District of Columbia
|
| Jan D. Marshall, M.S. |
Jackson Laboratory
Bar Harbor, Maine
|
| Stephen J. Marx, M.D. |
National Institute of Diabetes and Digestive and Kidney Diseases
National Institutes of Health
Bethesda, Maryland
|
| Michael A. Massiah, Ph.D. |
Oklahoma State University
Oklahoma City, Oklahoma
|
| James A. Mastrianni, M.D., Ph.D. |
University of Chicago
Chicago, Illinois
|
| Diane Mathis, Ph.D. |
Joslin Diabetes Center, Brigham and Women's Hospital
Harvard Medical School
Boston, Massachusetts
|
| Robert Maxson, Ph.D. |
University of Southern California
Los Angeles, California
|
| Juliana F. Mazzeu, Ph.D. |
Instituto de Biociências
Universidade de São Paulo
São Paulo, Brazil
|
| Donna M. McDonald-McGinn, M.S. |
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania
|
| Thomas J. Mcgarrity, M.D. |
Hershey Medical Center
Hershey, Pennsylvania
|
| Andreas Meyer-Lindenberg, M.D., Ph.D., M.Sc. |
Central Institute of Mental Health
Mannheim, Germany
|
| Ron C. Michaelis, Ph.D. |
Western Carolina University
Cullowhee, North Carolina
|
| Lindsay A. Middelton, R.N. |
National Cancer Institute
National Institutes of Health
Bethesda, Maryland
|
| Colleen A. Morris, M.D. |
University of Nevada School of Medicine
Las Vegas, Nevada
|
| Marcelle Morrison-Bogorad, Ph.D. |
National Institute on Aging
National Institutes of Health
Bethesda, Maryland
|
| Martha A. Nance, M.D. |
Park Nicollet Clinic
Saint Louis Park, Minnesota
|
| Walter E. Nance, M.D., Ph.D. |
Virginia Commonwealth University
Richmond, Virginia
|
| David L. Nelson, Ph.D. |
Baylor College of Medicine
Houston, Texas
|
| Maria I. New, M.D. |
Mount Sinai School of Medicine
New York, New York
|
| Lee A. Niswander, Ph.D. |
University of Colorado Health Sciences Center
Aurora, Colorado
|
| J. Patrick O'Neill, Ph.D. |
University of Vermont
Burlington, Vermont
|
| William S. Oetting, Ph.D. |
University of Minnesota
Minneapolis, Minnesota
|
| Shuji Ogino, M.D., Ph.D. |
Harvard Medical School
Boston, Massachusetts
|
| Deborah Ornstein, M.D. |
Yale University School of Medicine
New Haven, Connecticut
|
| Juan M. Pascual, M.D., Ph.D. |
University of Texas Southwestern Medical Center
Dallas, Texas
|
| Marc C. Patterson, M.D. |
Mayo Clinic
Rochester, Minnesota
|
| Phillip L. Pearl, M.D. |
Children's National Medical Center
Washington, District of Columbia
|
| Susan L. Perlman, M.D. |
David Geffen School of Medicine
University of California, Los Angeles
Los Angeles, California
|
| Ellen G. Pfendner, Ph.D. |
GeneDx, Inc.
Gaithersburg, Maryland
|
| John A. Phillips III, M.D. |
Vanderbilt University School of Medicine
Nashville, Tennessee
|
| Jonathan Picker, Ph.D. |
Children's Hospital of Boston
Boston, Massachusetts
|
| Manop Pithukpakorn, M.D. |
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland
|
| Paul H. Plotz, M.D. |
National Institute of Arthritis and Musculoskeletal and Skin Disorders
National Institutes of Health
Bethesda, Maryland
|
| Daniel K. Podolsky, M.D. |
Massachusetts General Hospital
Boston, Massachusetts
|
| Forbes D. Porter, M.D., Ph.D. |
National Institute of Child Health and Human Development
National Institutes of Health
Bethesda, Maryland
|
| Thomas W. Prior, Ph.D. |
Ohio State University
Columbus, Ohio
|
| Rajiv K. Pruthi, M.B.B.S. |
Mayo Clinic
Rochester, Minnesota
|
| Louis J. Ptáček, M.D. |
University of California, San Francisco
San Francisco, California
|
| Jennifer M. Puck, M.D. |
University of California, San Francisco
San Francisco, California
|
| Reed E. Pyeritz, M.D., Ph.D. |
University of Pennsylvania School of Medicine
Philadelphia, Pennsylvania
|
| Frank Rauch, M.D. |
Shriners Hospital for Children
Montreal, Quebec, Canada
|
| Samuel Refetoff, M.D. |
University of Chicago
Chicago, Illinois
|
| Ellen D. Renner, M.D. |
University of Washington
Seattle, Washington
|
| Andrea Richter, Ph.D. |
CHU Sainte-Justine Centre de Recherche
Université de Montréal
Montreal, Quebec, Canada
|
| Nathaniel H. Robin, M.D. |
University of Alabama at Birmingham
Birmingham, Alabama
|
| Henry Rosenberg, M.D. |
Saint Barnabas Medical Center
Livingston, New Jersey
|
| M. Elizabeth Ross, M.D., Ph.D. |
Weill Cornell Medical College
New York, New York
|
| Tracey A. Rouault, M.D. |
National Institute of Child Health and Human Development
National Institutes of Health
Bethesda, Maryland
|
| Guy A. Rouleau, M.D., Ph.D. |
University of Montreal
Montreal, Quebec, Canada
|
| Maureen M. Sanz, Ph.D. |
Molloy College
Rockville Centre, New York
|
| G. Bradley Schaefer, M.D. |
University of Nebraska Medical Center
Omaha, Nebraska
|
| N. Carolyn Schanen, M.D., Ph.D. |
Alfred I. duPont Hospital for Children
Wilmington, Delaware
|
| Raphael Schiffmann, M.D. |
National Instiute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, Maryland
|
| Edward Schuchman, Ph.D. |
Mount Sinai School of Medicine
New York, New York
|
| Charles E. Schwartz, Ph.D. |
Greenwood Genetic Center
Greenwood, South Carolina
|
| Robert D. Shamburek, M.D. |
National Heart, Lung, and Blood Institute
National Institutes of Health
Bethesda, Maryland
|
| Volney Sheen, M.D., Ph.D. |
Beth Israel Deaconess Medical Center
Harvard Medical School
Boston, Massachusetts
|
| Rita Shiang, Ph.D. |
Virginia Commonwealth University
Richmond, Virginia
|
| Akiko Shimamura, M.D., Ph.D. |
University of Washington
Seattle, Washington
|
| Marwan Shinawi, M.D. |
Baylor College of Medicine
Houston, Texas
|
| Eileen M. Shore, Ph.D. |
University of Pennsylvania
Philadelphia, Pennsylvania
|
| Teepu Siddique, M.D. |
Feinberg School of Medicine
Northwestern University
Chicago, Illinois
|
| Ellen Sidransky, M.D. |
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland
|
| James P. Simmer, D.D.S., Ph.D. |
University of Michigan School of Dentistry
Ann Arbor, Michigan
|
| Tony J. Simon, Ph.D. |
UC Davis Health System
Sacramento, California
|
| Harvey Singer, M.D. |
Johns Hopkins Hospital
Baltimore, Maryland
|
| Susan A. Slaugenhaupt, Ph.D. |
Harvard Partners Center for Genetics and Genomics
Boston, Massachusetts
|
| Richard J. H. Smith, M.D. |
University of Iowa
Iowa City, Iowa
|
| Nancy B. Spinner, Ph.D. |
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania
|
| Igor Splawski, Ph.D. |
Harvard Medical School
Boston, Massachusetts
|
| Matthew W. State, M.D., Ph.D. |
Yale University School of Medicine
New Haven, Connecticut
|
| Steven J. Steinberg, Ph.D. |
Kennedy Krieger Institute
Baltimore, Maryland
|
| Cathy A. Stevens, M.D. |
University of Tennessee
Chattanooga, Tennessee
|
| Kathleen E. Sullivan, M.D., Ph.D. |
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania
|
| Virginia P. Sybert, M.D. |
University of Washington
Seattle, Washington
|
| Pranoot Tanpaiboon, M.D. |
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland
|
| Sharon Terry, M.A. |
Genetic Alliance
Washington, District of Columbia
|
| Jorge R. Toro, M.D. |
National Cancer Institute
National Institutes of Health
Bethesda, Maryland
|
| Jeffrey A. Towbin, M.D. |
Texas Children's Hospital
Houston, Texas
|
| Han-Mou Tsai, M.D. |
Montefiore Medical Center
New York, New York
|
| Ekaterini Tsilou, M.D. |
National Eye Institute
National Institutes of Health
Bethesda, Maryland
|
| Yasuyoshi Ueki, Ph.D., M.D. |
Harvard School of Dental Medicine
Boston, Massachusetts
|
| Angela M. Vianna-Morgante, Ph.D. |
Instituto de Biociências
Universidade de São Paulo
São Paulo, Brazil
|
| Eric J. Vilain, M.D., Ph.D. |
University of California School of Medicine
Los Angeles, California
|
| G. Michael Vincent, M.D. |
LDS Hospital
Salt Lake City, Utah
|
| Thomas A. Waldmann, M.D. |
National Cancer Institute
National Institutes of Health
Bethesda, Maryland
|
| Ruth H. Walker, M.B., Ch.B., Ph.D. |
Mount Sinai School of Medicine
New York, New York
|
| Ching H. Wang, M.D., Ph.D. |
Stanford University Medical Center
Stanford, California
|
| Heng Wang, M.D., Ph.D. |
DDC Clinic for Special Needs Children
Middlefield, Ohio
|
| Lisa L. Wang, M.D. |
Texas Children's Cancer Center
Baylor College of Medicine
Houston, Texas
|
| David A. Wenger, Ph.D. |
Jefferson Medical College
Philadelphia, Pennsylvania
|
| David A. Whiting, M.D. |
Baylor Hair Research and Treatment Center
Dallas, Texas
|
| William R. Wilcox, M.D., Ph.D. |
Cedars-Sinai Medical Center
Los Angeles, California
|
| Patricia D. Wilson, Ph.D. |
Mount Sinai School of Medicine
New York, New York
|
| Howard J. Worman, M.D. |
Columbia University
New York, New York
|
| Huda Y. Zoghbi, M.D. |
Baylor College of Medicine
Houston, Texas
|
| Jonathan Zonana, M.D. |
Oregon Health and Science University
Portland, Oregon
|
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