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Expert Reviewers

Genetics Home Reference is developed by a Staff that includes genetic counselors, biologists, and computer and information scientists. Expert reviewers perform a comprehensive review of each condition, gene, gene family, and chromosome summary before it is posted to Genetics Home Reference, and with each substantial revision thereafter. Experts for Genetics Home Reference do not review gene information that was extracted automatically from online scientific databases. The date of the last comprehensive review is noted in each summary.

Expert ReviewerInstitutional Affiliation
David H. Abramson, M.D.
Memorial Sloan-Kettering Cancer Center
New York, New York
Margaret P. Adam, M.D.
Emory University
Decatur, Georgia
Anil K. Agarwal, Ph.D.
University of Texas Southwestern Medical Center
Dallas, Texas
Ivona Aksentijevich, M.D.
National Institute of Arthritis and Musculoskeletal and Skin Diseases
National Institutes of Health
Bethesda, Maryland
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
Yannick Allanore, M.D., Ph.D.
Hôpital Cochin
Paris, France
Judith E Allanson, M.D.
Children's Hospital of Eastern Ontario
Ottawa, Ontario, Canada
Mounira Amor-Guéret, Ph.D.
Institut Curie
Orsay, France
Karl E. Anderson, M.D.
University of Texas Medical Branch
Galveston, Texas
Robert J. Arceci, M.D., Ph.D.
Johns Hopkins University
Baltimore, Maryland
Kathleen S. Arnos, Ph.D.
Gallaudet University
Washington, District of Columbia
Spyros Artavanis-Tsakonas, Ph.D.
Harvard Medical School
Boston, Massachusetts
Arleen Auerbach, Ph.D.
The Rockefeller University
New York, New York
Alberto Auricchio, M.D.
University Federico II of Naples
Naples, Italy
Felicia B. Axelrod, M.D.
New York University School of Medicine
New York, New York
Sherri J. Bale, Ph.D.
GeneDx, Inc.
Gaithersburg, Maryland
Deeksha S. Bali, Ph.D.
Duke University Medical Center
Durham, North Carolina
Anne Barton, Ph.D.
The University of Manchester
Manchester, United Kingdom
Craig T. Basson, M.D., Ph.D.
Weill Medical College of Cornell University
New York, New York
Lisa Baumbach-Reardon, Ph.D.
Miller School of Medicine
University of Miami
Miami, Florida
Pinar Bayrak-Toydemir, M.D., Ph.D.
ARUP Laboratories
Salt Lake City, Utah
Philip L. Beales, M.D.
Institute of Child Health
University College London
London, England
Michael A. Becker, M.D.
The University of Chicago Pritzker School of Medicine
Chicago, Illinois
Merrill D. Benson, M.D.
Indiana University School of Medicine
Indianapolis, Indiana
Robert G. Best, Ph.D.
University of South Carolina
Columbia, South Carolina
Roberta Biancheri, M.D., Ph.D.
University of Genoa
Genoa, Italy
Anna Biason-Lauber, M.D.
University Children’s Hospital
Zurich, Switzerland
Daniel G. Bichet, M.D.
University of Montreal
Montreal, Quebec, Canada
David R. Bickers, M.D.
Columbia University Medical Center
New York, New York
Leslie G. Biesecker, M.D.
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland
Gerhard Binder, M.D., Ph.D.
University Children’s Hospital
Tübingen, Germany
Thomas D. Bird, M.D.
Veterans Administration Medical Center
Seattle, Washington
Marc Bitoun, Ph.D.
Institute of Myology
Pitie-Salpetriere Hospital
Paris, France
Craig Blackstone, M.D., Ph.D.
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, Maryland
Nenad Blau, Ph.D.
University Children's Hospital
Zurich, Switzerland
Jack J. H. Bleesing, M.D., Ph.D.
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio
Anthony J. Bleyer, M.D., M.S.
Wake Forest University School of Medicine
Winston-Salem, North Carolina
Michael P. Blundell, Ph.D.
University College London, Institute of Child Health
London, England
Cornelius F. Boerkoel, M.D., Ph.D.
University of British Columbia
Vancouver, British Columbia
Richard G. Boles, M.D.
Childrens Hospital Los Angeles
Los Angeles, California
Piter J. Bosma, Ph.D.
Tytgat Institute for Liver and Intestinal Research
Amsterdam, The Netherlands
Sylvia S. Bottomley, M.D.
University of Oklahoma Health Sciences Center
Oklahoma City, Oklahoma
Kym Boycott, Ph.D., M.D.
Children's Hospital of Eastern Ontario
Ottawa, Ontario, Canada
Olivier Braissant, Ph.D.
University of Lausanne
Lausanne, Switzerland
Allison Brashear, M.D.
Wake Forest University School of Medicine
Winston-Salem, North Carolina
Nancy Braverman, M.S., M.D.
Montreal Children's Hospital Research Institute
McGill University
Montreal, Quebec, Canada
Xandra O. Breakefield, Ph.D.
Massachusetts General Hospital
Charlestown, Massachusetts
Alanna F. Bree, M.D.
Dermatology Specialists of Houston
Houston, Texas
Timothy Brei, M.D.
Riley Hospital for Children
Indianapolis, Indiana
Wolfgang Briegel, M.D.
Leopoldina Hospital
Schweinfurt, Germany
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
Laura Bull, Ph.D.
University of California, San Francisco
San Francisco, California
Susan Burge, D.M.
Oxford Radcliffe Hospitals
NHS Trust
Oxford, England
Katherine M. Bushby, M.D.
Newcastle University
Newcastle upon Tyne, United Kingdom
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
Carlos Cardoso, Ph.D.
Mediterranean Institute of Neurobiology
INSERM
Marseille, France
Melissa Carter, M.D., M.Sc.
Children's Hospital of Eastern Ontario
Ottawa, Ontario, Canada
Rafael C. Caruso, M.D.
National Eye Institute
National Institutes of Health
Bethesda, Maryland
Sara S. Cathey, M.D.
Greenwood Genetic Center
North Charleston, South Carolina
Antonino Cattaneo, Ph.D.
The European Brain Research Institute
Rome, Italy
Bernard S. Chang, M.D., M.M.Sc.
Beth Israel Deaconess Medical Center
Boston, Massachusetts
Harold Chen, M.D.
Louisiana State University Health Sciences Center
Shreveport, Louisiana
John Christodoulou, Ph.D.
University of Sydney
Sydney, Australia
Albert E. Chudley, M.D.
University of Manitoba
Winnipeg, Manitoba, Canada
Lorne A. Clarke, M.D.
University of British Columbia
Vancouver, British Columbia, Canada
Nigel Clarke, M.B., Ch.B., Ph.D.
Children's Hospital at Westmead
University of Sydney
Sydney, Australia
Bradford W. Coffee, Ph.D.
Emory University School of Medicine
Atlanta, Georgia
William I. Cohen, M.D.
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania
Patrick Concannon, Ph.D.
University of Virginia
Charlottesville, Virginia
Mary Ellen Conley, M.D.
St. Jude Children's Research Hospital
Memphis, Tennessee
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
Valerie Cormier-Daire, M.D., Ph.D.
L'Université Paris Descartes
Paris, France
David Cornblath, M.D.
Johns Hopkins University
Baltimore, Maryland
Phillip M. Cox, M.B.B.S, Ph.D.
Birmingham Women’s Hospital
Birmingham, United Kingdom
Rody P. Cox, M.D.
University of Texas Southwestern Medical School
Dallas, Texas
Deborah Cragun, M.S.
University of Tampa
Tampa, Florida
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
Charlotte Cunningham-Rundles, M.D., Ph.D.
Mount Sinai School of Medicine
New York, New York
Patricia Dahia, M.D., Ph.D.
University of Texas Health Science Center
San Antonio, Texas
Stephen P. Daiger, Ph.D.
The University of Texas Health Science Center at Houston
Houston, Texas
David C. Dale, M.D.
University of Washington
Seattle, Washington
Mehul T. Dattani, M.D.
UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust
London, England
Alessandra d'Azzo, Ph.D.
St. Jude Children's Research Hospital
Memphis, Tennessee
Michael Dean, Ph.D.
National Cancer Institute
National Institutes of Health
Bethesda, Maryland
Elfride De Baere, M.D., Ph.D.
Ghent University Hospital
Ghent, Belgium
Pietro De Camilli, M.D.
Yale University School of Medicine
New Haven, Connecticut
Elizabeth Taylor DeChene, M.S., C.G.C.
Children's Hospital Boston
Boston, Massachusetts
John Karl de Dios, M.D.
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland
Giovanni Defazio, M.D., Ph.D.
University of Bari
Bari, Italy
Diva D. De León-Crutchlow, M.D.
The Children’s Hospital of Philadelphia
Philadelphia, Pennsylvania
Anneke den Hollander, Ph.D.
Nijmegen Centre for Molecular Life Sciences
Nijmegen, The Netherlands
Maria Descartes, M.D.
University of Alabama
Birmingham, Alabama
Frederick J. de Serres, Ph.D.
National Institute of Environmental Health Sciences
Research Triangle Park, North Carolina
Hugues de Thé, M.D., Ph.D.
University of Paris
Paris, France
Robert B. Diasio, M.D.
Mayo Clinic
Rochester, Minnesota
Salvatore DiMauro, M.D.
Columbia University
New York, New York
David Dimmock, M.D.
Medical College of Wisconsin
Milwaukee, Wisconsin
Christine M Disteche, Ph.D.
University of Washington
Seattle, Washington
William B. Dobyns, M.D.
University of Chicago
Chicago, Illinois
Catherine Dodé, Ph.D.
L'Université Paris Descartes
Paris, France
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
Roland M. du Bois, M.A., M.D.
Royal Brompton Hospital and Imperial College
London, United Kingdom
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
Sally L. Dunwoodie, Ph.D.
Victor Chang Cardiac Research Institute
Darlinghurst, New South Wales, Australia
Michael J. Econs, M.D.
Indiana University School of Medicine
Indianapolis, Indiana
John A. Elefteriades, M.D.
Yale University School of Medicine
New Haven, Connecticut
Charis Eng, M.D., Ph.D.
Cleveland Clinic
Cleveland, Ohio
Andrew G. Engel, M.D.
Mayo Clinic
Rochester, Minnesota
Elizabeth C. Engle, M.D.
Children's Hospital Boston
Boston, Massachusetts
Virgilio H. Evidente, M.D.
Mayo Clinic
Scottsdale, Arizona
Polly Ferguson, M.D.
University of Iowa Carver College of Medicine
Iowa City, Iowa
Jorge Filmus, Ph.D.
University of Toronto
Toronto, Ontario, Canada
Josef Finsterer, M.D., Ph.D.
Krankenanstalt Rudolfstiftung
Vienna and Danube University
Krems, Austria
Helen V. Firth, D.M., D.C.H.
Addenbrooke's Hospital
Cambridge, England
Sarah E. Flanagan, Ph.D.
Peninsula College of Medicine and Dentistry
Institute of Biomedical and Clinical Science
Exeter, United Kingdom
Arvan Fluharty, Ph.D.
University of California
Los Angeles, California
Mark H. Fox, B.S.
University of Iowa
Iowa City, Iowa
Karen H. Friderici, Ph.D.
Michigan State University
East Lansing, Michigan
Toshiyuki Fukao, M.D., Ph.D.
Gifu University
Gifu, Japan
Toshio Fukutake, M.D., Ph.D.
Kameda Medical Center
Kamogawa, Japan
Yoshiaki Furukawa, M.D.
University of Toronto
Toronto, Ontario, Canada
William A. Gahl, M.D., Ph.D.
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland
Renzo Galanello, M.D.
Ospedale Regionale Microcitemie
Cagliari, Italy
Hanna T. Gazda, M.D.
Children's Hospital Boston
Boston, Massachusetts
Bruce D. Gelb, M.D.
Mount Sinai School of Medicine
New York, New York
M. Eric Gershwin, M.D.
University of California, Davis
Davis, California
Richard Gibbons, M.A., D.Phil.
Weatherall Institute of Molecular Medicine
University of Oxford
Oxford, United Kingdom
Anne-Paule Gimenez-Roqueplo, M.D., Ph.D.
Hôpital Européen Georges Pompidou
Paris, France
Jonathan D. Gitlin, M.D.
Washington University School of Medicine
St. Louis, Missouri
Peter Gloviczki, M.D.
Mayo Clinic
Rochester, Minnesota
Charles A. Goldfarb, M.D.
Washington University School of Medicine
St. Louis, Missouri
Aldrin V. Gomes, Ph.D.
University of California, Davis
Davis, California
J. Rafael Gorospe, M.D., Ph.D.
Children's National Medical Center
Washington, District of Columbia
Jerome L. Gorski, M.D.
University of Missouri-Columbia School of Medicine
Columbia, Missouri
Bruce Gottlieb, Ph.D.
McGill University
Montreal, Quebec, Canada
Irene Gottlob, M.D.
University of Leicester
Leicester, United Kingdom
John D. Gottsch, M.D.
Wilmer Eye Institute
Johns Hopkins University
Baltimore, Maryland
John M. Graham, M.D., Sc.D.
Cedars-Sinai Medical Center
Los Angeles, California
Angela Greco, Ph.D.
Istituto Nazionale dei Tumori
Milan, Italy
Peter H. R. Green, M.D.
Columbia University
New York, New York
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
Paul D. Grossfeld, M.D.
University of California, San Diego
San Diego, California
Michela Guglieri, M.D.
Newcastle University
Newcastle upon Tyne, United Kingdom
Meral Gunay-Aygun, M.D.
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland
Alan E. Guttmacher, M.D.
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland
Peter Hackman, Ph.D.
University of Helsinki
Helsinki, Finland
Christian Hafner, P.D. Dr. med.
University of Regensburg
Regensburg, Germany
Randi J. Hagerman, M.D.
University of California Davis Medical Center
Sacramento, California
Timothy C. Hain, M.D.
Northwestern University Medical School
Chicago, Illinois
Judith G. Hall, M.D.
BC Children's Hospital
Vancouver, British Columbia, Canada
Paul Harmatz, M.D.
Children’s Hospital and Research Center Oakland
Oakland, California
Suzanne Hart, Ph.D.
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland
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
Peter Heutink, Ph.D.
VU University Medical Center
Amsterdam, The Netherlands
Debbie Hicks, Ph.D.
Institute of Human Genetics
Newcastle University
Newcastle upon Tyne, United Kingdom
Michael S. Hildebrand, Ph.D.
Carver College of Medicine
University of Iowa
Iowa City, Iowa
Richard E. Hillman, M.D.
University of Missouri
Columbia, Missouri
Michio Hirano, M.D.
Columbia University Medical Center
New York, New York
Sandra L. Hofmann, M.D., Ph.D.
University of Texas Southwestern Medical Center
Dallas, Texas
Alexander Hoischen, Ph.D.
Radboud University Nijmegen Medical Centre
Nijmegen, The Netherlands
Muriel Holder-Espinasse, M.D.
Hôpital Jeanne de Flandre
Centre Hospitalier Régional Universitaire de Lille (CHRU)
Lille, France
Julie E. Hoover-Fong, M.D.
Johns Hopkins Medicine
Baltimore, Maryland
Anelia Horvath, Ph.D.
Eunice Kennedy Shriver National Institute of Child Health and Human Development
National Institutes of Health
Bethesda, Maryland
Henry Houlden, M.D.
Institute of Neurology and The National Hospital for Neurology and Neurosurgery
London, England
James R. Howe, M.D.
University of Iowa Carver College of Medicine
Iowa City, Iowa
Kathleen Hruska, Ph.D.
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland
Chou-Long Huang, M.D., Ph.D.
University of Texas Southwestern Medical Center
Dallas, Texas
Vicki Huff, Ph.D.
M.D. Anderson Cancer Center
Houston, Texas
M. Mahmood Hussain, Ph.D.
SUNY Downstate Medical Center
Brooklyn, New York
Keith Hyland, Ph.D.
Medical Neurogenetics, LLC
Atlanta, Georgia
Jeffrey W. Innis, M.D., Ph.D.
University of Michigan
Ann Arbor, Michigan
Achille Iolascon, M.D., Ph.D.
University Federico II of Naples
Naples, Italy
Adrian Isaacs, D.Phil.
University College London
London, England
Ashish Jain, M.D.
National Institute of Allergy and Infectious Diseases
National Institutes of Health
Bethesda, Maryland
Joseph Jankovic, M.D.
Baylor College of Medicine
Houston, Texas
Anna C. Jansen, M.D., Ph.D.
Universitair Ziekenhuis Brussel
Brussels, Belgium
Katrien Janssens, Ph.D.
University of Antwerp
Antwerp, Belgium
Joanna C. Jen, M.D., Ph.D.
David Geffen School of Medicine
University of California, Los Angeles
Los Angeles, California
Eric W. Johnson, Ph.D.
Prevention Genetics
Marshfield, Wisconsin
Madhulika Kabra, M.D.
All India Institute of Medical Sciences
New Delhi, India
Klaus H. Kaestner, Ph.D.
University of Pennsylvania School of Medicine
Philadelphia, Pennsylvania
Luba Kalaydjieva, M.D., Ph.D.
Centre for Medical Research and Western Australian Institute for Medical Research
The University of Western Australia
Perth, Australia
Stephen G. Kaler, M.D., M.P.H.
National Institute of Child Health and Human Development
National Institutes of Health
Bethesda, Maryland
Sibel Kantarci, M.S., Ph.D.
Beth Israel Deaconess Medical Center
Boston, Massachusetts
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
David Kelsell, Ph.D.
Barts and The London School of Medicine and Dentistry
London, England
Muhammad Asim Khan, M.D.
Case Western Reserve University
Cleveland, Ohio
William J. Kimberling, Ph.D.
Boys Town National Research Hospital
Omaha, Nebraska
Tjitske Kleefstra, M.D., Ph.D.
Radboud University Nijmegen Medical Centre
Nijmegen, The Netherlands
Christopher J. Klein, M.D.
Mayo Clinic
Rochester, Minnesota
Antonie D. Kline, M.D.
Greater Baltimore Medical Center
Baltimore, Maryland
Barbara Kloeckener, Ph.D.
Institute of Medical Genetics
University of Zurich
Schwerzenbach, Switzerland
Nine V.A.M. Knoers, M.D., Ph.D.
Radboud University Nijmegen Medical Centre
Nijmegen, The Netherlands
David A. Koolen, M.D., Ph.D.
Radboud University Nijmegen Medical Centre
Nijmegen, The Netherlands
Bruce R. Korf, M.D., Ph.D.
University of Alabama at Birmingham
Birmingham, Alabama
Maranke Koster, Ph.D.
University of Colorado Denver
Denver, Colorado
Kenneth H. Kraemer, M.D.
National Cancer Institute
National Institutes of Health
Bethesda, Maryland
Ian Krantz, M.D.
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania
Donna M. Krasnewich, M.D., Ph.D.
National Institute of General Medical Sciences
National Institutes of Health
Bethesda, Maryland
Jody Kujovich, M.D.
Northwest Cancer Specialists
Portland, Oregon
Felicitas Lacbawan, M.D.
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland
Dale W. Laird, Ph.D.
University of Western Ontario
London, Ontario, Canada
Seema R. Lalani, M.D.
Baylor College of Medicine
Houston, Texas
Maria Lalioti, Ph.D.
Yale University School of Medicine
New Haven, Connecticut
Phillipa Lamont, Ph.D.
Royal Perth Hospital
Perth, Western Australia
Sancy A. Leachman, M.D., Ph.D.
University of Utah
Salt Lake City, Utah
Brendan Lee, M.D., Ph.D.
Baylor College of Medicine
Houston, Texas
Jerry B. Lefkowitz, M.D.
Weill Cornell College of Medicine
Cornell University
New York, New York
Eric Legius, M.D., Ph.D.
Catholic University Leuven
Leuven, Belgium
Alex V. Levin, M.D., M.H.Sc.
Wills Eye Institute
Philadelphia, Pennsylvania
Harvey Levy, M.D.
Children's Hospital Boston
Boston, Massachusetts
Jamie L'Heureux, M.S., C.G.C.
University of Iowa
Iowa City, Iowa
Chumei Li, M.D., Ph.D.
McMaster Children's Hospital
McMaster University
Hamilton, Ontario, Canada
Daniel C. Link, M.D.
Washington University School of Medicine
St. Louis, Missouri
Rebecca Link, Ph.D.
National Heart, Lung and Blood Institute
National Institutes of Health
Bethesda, Maryland
Nicola Longo, M.D., Ph.D.
University of Utah
Salt Lake City, Utah
James Loyd, M.D.
Vanderbilt University Medical Center
Nashville, Tennessee
John P. Lubicky, M.D.
West Virginia University School of Medicine
Morgantown, West Virginia
Anne W. Lucky, M.D.
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio
David R. Lynch, M.D., Ph.D.
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania
Henry T. Lynch, M.D.
Creighton University School of Medicine
Omaha, Nebraska
Michael J. Lyons, M.D.
Greenwood Genetic Center
Greenwood, South Carolina
David H. MacLennan, Ph.D.
Charles H. Best Institute
University of Toronto
Toronto, Ontario, Canada
Irini Manoli, M.D., Ph.D.
National Human Genome Research Institute
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
John M. Maris, M.D.
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania
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
Rebecca A. Marsh, M.D.
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio
Miguel A. Martín Casanueva, Ph.D.
Hospital Universitario 12 de Octubre
Madrid, Spain
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
Shawn McCandless, M.D.
Case Western Reserve University
Cleveland, Ohio
Michael McDermott, M.D.
University of Leeds
Leeds, United Kingdom
Thomas J. Mcgarrity, M.D.
Hershey Medical Center
Hershey, Pennsylvania
William J. McKenna, M.D.
The Heart Hospital
University College London
London, England
Dianalee A. McKnight, Ph.D.
National Institute of Dental and Craniofacial Research
National Institutes of Health
Bethesda, Maryland
Heather C. Mefford, M.D., Ph.D.
University of Washington
Seattle, Washington
Meira R. Meltzer, M.A., M.S.
National Eye Institute
National Institutes of Health
Bethesda, Maryland
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
Markku M. Miettinen, M.D.
National Cancer Institute
National Institutes of Health
Bethesda, Maryland
Emmanuel Mignot, M.D., Ph.D.
Stanford University Center For Narcolepsy
Palo Alto, California
David T. Miller, M.D., Ph.D.
Children's Hospital Boston
Boston, Massachusetts
Grant Mitchell, M.D.
CHU Sainte-Justine Centre de Recherche
University of Montreal
Montreal, Quebec, Canada
Robert S. Molday, Ph.D.
University of British Columbia
Vancouver, British Columbia, Canada
Marcelle Morrison-Bogorad, Ph.D.
National Institute on Aging
National Institutes of Health
Bethesda, Maryland
Peter Mortimer, M.D.
University of London
London, England
Joel Moss, M.D., Ph.D.
National Heart, Lung and Blood Institute
National Institutes of Health
Bethesda, Maryland
Richard T. Moxley III, M.D.
University of Rochester Medical Center
Rochester, New York
Maximilian Muenke, M.D.
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland
Yasmin Namavar, M.Sc.
University of Amsterdam
Amsterdam, The Netherlands
Martha A. Nance, M.D.
Park Nicollet Clinic
Saint Louis Park, Minnesota
David R. Nash, M.D.
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania
David L. Nelson, Ph.D.
Baylor College of Medicine
Houston, Texas
Elizabeth F. Neufeld, Ph.D.
University of California, Los Angeles
Los Angeles, California
Maria I. New, M.D.
Mount Sinai School of Medicine
New York, New York
Norio Niikawa, M.D., Ph.D.
Health Sciences University of Hokkaido
Hokkaido, Japan
Lee A. Niswander, Ph.D.
University of Colorado Health Sciences Center
Aurora, Colorado
Marina Noris, Ph.D.
Mario Negri Institute for Pharmacological Research
Bergamo, Italy
William S. Oetting, Ph.D.
University of Minnesota
Minneapolis, Minnesota
João R. M. Oliveira, M.D., Ph.D.
Federal University of Pernambuco
Recife, Brazil
J. Patrick O'Neill, Ph.D.
University of Vermont
Burlington, Vermont
Junko Oshima, M.D., Ph.D.
International Registry of Werner Syndrome
University of Washington
Seattle, Washington
Elsebet Østergaard, M.D., Ph.D.
National University Hospital Rigshospitalet
Copenhagen, Denmark
Ruth Ottman, Ph.D.
Columbia University Medical Center
New York, New York
Laurie Ozelius, Ph.D.
Mount Sinai School of Medicine
New York, New York
Juha Paloneva, M.D., Ph.D.
National Public Health Institute
Helsinki, Finland
Songya Pang, M.D.
University of Illinois at Chicago
Chicago, Illinois
Melissa A. Parisi, M.D., Ph.D.
Eunice Kennedy Shriver National Institute of Child Health and Human Development
National Institutes of Health
Bethesda, Maryland
Juan M. Pascual, M.D., Ph.D.
University of Texas Southwestern Medical Center
Dallas, Texas
Maria Rita Passos Bueno, Ph.D.
University of São Paulo
São Paulo, Brazil
Marc C. Patterson, M.D.
Mayo Clinic
Rochester, Minnesota
David A. Pearce, Ph.D.
University of Rochester Medical Center
Rochester, New York
Phillip L. Pearl, M.D.
Children's National Medical Center
Washington, District of Columbia
Florence Pedeutour, Ph.D.
University Hospital Center, Nice
Nice, France
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
Katy Phelan, Ph.D.
Molecular Pathology Laboratory Network, Inc.
Maryville, Tennessee
Alistair Phillips, M.D.
Nationwide Children's Hospital
Columbus, Ohio
Capucine Picard, M.D., Ph.D.
Necker-Enfants Malades Medical School
Paris, France
Jonathan Picker, Ph.D.
Children's Hospital of Boston
Boston, Massachusetts
Christopher R. Pierson, M.D., Ph.D.
Nationwide Children’s Hospital
Columbus, Ohio
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
Barbara R. Pober, M.D.
MassGeneral Hospital for Children
Harvard Medical School
Boston, Massachusetts
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
Silvia G. Priori, M.D., Ph.D.
Langone Medical Center
New York University
New York, New York
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
Rosa Puertollano-Moro, Ph.D.
National Heart, Lung, and Blood Institute
National Institutes of Health
Bethesda, Maryland
Reed E. Pyeritz, M.D., Ph.D.
University of Pennsylvania School of Medicine
Philadelphia, Pennsylvania
Shamima Rahman, Ph.D.
Institute of Child Health
University College London
London, United Kingdom
Stuart H. Ralston, M.D.
Institute of Genetics & Molecular Medicine
Western General Hospital
Edinburgh, Scotland
Anita Rauch, Ph.D.
Institute of Medical Genetics
University of Zurich
Zurich, Switzerland
Frank Rauch, M.D.
Shriners Hospital for Children
Montreal, Quebec, Canada
Bernd Rautenstrauss, Dr.rer.nat.
Medizinisch Genetisches Zentrum
Munich, Germany
Gerald V. Raymond, M.D.
Kennedy Krieger Institute
Baltimore, Maryland
Samuel Refetoff, M.D.
University of Chicago
Chicago, Illinois
Ernst Reichenberger, Ph.D.
University of Connecticut Health Center
Farmington, Connecticut
Raffaele Renella, M.D.
Weatherall Institute of Molecular Medicine
The John Radcliffe Hospital - Headington
Oxford, England
Ellen D. Renner, M.D.
University of Washington
Seattle, Washington
Jean Revuz, M.D.
Henri Mondor Hospital
Paris, France
Pascal Reynier, M.D., Ph.D.
University of Angers
Angers, France
Rodolfo Rey, M.D., Ph.D.
Hospital de Niños R. Gutiérrez
Buenos Aires, Argentina
Simon J. Rhodes, Ph.D.
Indiana University School of Medicine
Indianapolis, Indiana
Gillian Rice, M.D.
University of Manchester
Manchester, U.K.
Andrea Richter, Ph.D.
CHU Sainte-Justine Centre de Recherche
University of Montreal
Montreal, Quebec, Canada
Thereasa Rich, M.S., C.G.C.
MD Anderson Cancer Center
Houston, Texas
Lisa Rider, M.D.
National Institute of Environmental Health Sciences
National Institutes of Health
Bethesda, Maryland
William B. Rizzo, M.D.
University of Nebraska Medical Center
Omaha, Nebraska
David Robertson, M.D.
Vanderbilt University
Nashville, Tennessee
Stephen Robertson, M.D., Ph.D.
University of Otago
Dunedin, New Zealand
Nathaniel H. Robin, M.D.
University of Alabama at Birmingham
Birmingham, Alabama
Eyvind Rødahl, M.D., Ph.D.
Haukeland University Hospital
Bergen, Norway
Tony Roscioli, M.B.B.S.
Prince of Wales Hospital
Sydney, Australia
Henry Rosenberg, M.D.
Saint Barnabas Medical Center
Livingston, New Jersey
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
Monique M. Ryan, M.B., M.S., M.Med.
Royal Children’s Hospital
Parkville, Australia
Jani Saarela, Ph.D.
Institute for Molecular Medicine Finland
Helsinki, Finland
Richard Sabina, Ph.D.
Medical College of Wisconsin
Milwaukee, Wisconsin
Hamid M. Said, Ph.D., Pharm.D.
University of California School of Medicine
Irvine, California
Claudio Sandoval, M.D.
New York Medical College
Valhalla, New York
Anna Sarkozy, M.D., Ph.D.
Institute of Human Genetics
Newcastle University
Newcastle upon Tyne, United Kingdom
Sharon Savage, M.D.
National Cancer Institute
National Institutes of Health
Bethesda, Maryland
Anna Savoia, Ph.D.
University of Trieste
Trieste, Italy
G. Bradley Schaefer, M.D.
University of Nebraska Medical Center
Omaha, Nebraska
Gerd Scherer, Ph.D.
Institute of Human Genetics
University of Freiburg
Freiburg, Germany
Steven Scherer, M.D., Ph.D.
The University of Pennsylvania School of Medicine
Philadelphia, Pennsylvania
Raphael Schiffmann, M.D.
National Instiute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, Maryland
Lisa Schimmenti, M.D.
University of Minnesota
Minneapolis, Minnesota
Kamilla Schlade-Bartusiak, Ph.D.
University of Alberta
Edmonton, Alberta, Canada
Adele Schneider, M.D.
Albert Einstein Medical Center
Philadelphia, Pennsylvania
Edward Schuchman, Ph.D.
Mount Sinai School of Medicine
New York, New York
Markus Schuelke, M.D.
Charité University Medical Center
Berlin, Germany
Charles E. Schwartz, Ph.D.
Greenwood Genetic Center
Greenwood, South Carolina
Courtney Sebold, M.S., C.G.C.
Chromosome 18 Clinical Research Center
University of Texas Health Science Center at San Antonio
San Antonio, Texas
Duygu Selcen, M.D.
Mayo Clinic
Rochester, Minnesota
Uri Seligsohn, M.D.
Chaim Sheba Medical Center
Tel Hashomer, Israel
Partha Sen, Ph.D.
Baylor College of Medicine
Houston, Texas
Lisa G. Shaffer, Ph.D.
Signature Genomic Laboratories
Spokane, Washington
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
Michael E. Shy, M.D.
Wayne State University School of Medicine
Detroit, Michigan
Teepu Siddique, M.D.
Feinberg School of Medicine
Northwestern University
Chicago, Illinois
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
Susan A. Slaugenhaupt, Ph.D.
Harvard Partners Center for Genetics and Genomics
Boston, Massachusetts
Anne Slavotinek, M.D., Ph.D.
University of California, San Francisco
San Francisco, California
Richard J. H. Smith, M.D.
University of Iowa
Iowa City, Iowa
Benjamin D. Solomon, M.D.
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland
Siân D. Spacey, M.D.
University of British Columbia
Vancouver, British Columbia, Canada
Nancy B. Spinner, Ph.D.
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania
Igor Splawski, Ph.D.
Harvard Medical School
Boston, Massachusetts
Richard A. Spritz, M.D.
University of Colorado School of Medicine
Aurora, Colorado
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
Sarah Stein, M.D.
University of Chicago
Chicago, Illinois
Cathy A. Stevens, M.D.
University of Tennessee
Chattanooga, Tennessee
Catherine A. Stolle, Ph.D.
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania
Michael Stowasser, M.B.B.S., Ph.D.
University of Queensland
Brisbane, Australia
Constantine Stratakis, M.D., D.Sc.
Eunice Kennedy Shriver National Institute of Child Health and Human Development
National Institutes of Health
Bethesda, Maryland
Oksana Suchowersky, M.Sc., M.D.
University of Calgary
Calgary, Alberta, Canada
Kathleen E. Sullivan, M.D., Ph.D.
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania
Anu Suomalainen Wartiovaara, M.D., Ph.D.
University of Helsinki
Helsinki, Finland
V. Reid Sutton, M.D.
Baylor College of Medicine
Houston, Texas
Dallas Swallow, Ph.D.
University College London
London, England
Anand Swaroop, Ph.D.
National Eye Institute
National Institutes of Health
Bethesda, Maryland
Maurizio Taglialatela, M.D., Ph.D.
University of Molise
Campobasso, Italy
Pranoot Tanpaiboon, M.D.
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland
Nicole Tartaglia, M.D.
University of Colorado at Denver School of Medicine
Aurora, Colorado
Rabi Tawil, M.D.
University of Rochester Medical Center
Rochester, New York
Matthew R. G. Taylor, M.D., Ph.D.
University of Colorado Denver
Denver, Colorado
Ayalew Tefferi, M.D.
Mayo Clinic
Rochester, Minnesota
Isabel Karen Temple, M.D., M.B.Ch.B.
University of Southampton
Southampton, Hampshire, United Kingdom
Sharon Terry, M.A.
Genetic Alliance
Washington, District of Columbia
Anna Teti, Ph.D.
University of L'Aquila
L'Aquila, Italy
Cynthia J. Tifft, M.D., Ph.D.
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland
Vincent Timmerman, Ph.D.
University of Antwerp
Antwerp, Belgium
Dean R. Tolan, Ph.D.
Boston University
Boston, Massachusetts
Carmel Toomes, Ph.D., B.Sc.
University of Leeds
Leeds, England
Helga V. Toriello, Ph.D.
Spectrum Health
Grand Rapids, Michigan
Jorge R. Toro, M.D.
National Cancer Institute
National Institutes of Health
Bethesda, Maryland
Reha Toydemir, M.D., Ph.D.
ARUP Laboratories
Salt Lake City, Utah
Lisbeth Tranebjærg, M.D., Ph.D.
University of Copenhagen
Copenhagen, Denmark
Edwin Trevathan, M.D., M.P.H.
National Center on Birth Defects & Developmental Disabilities
Centers for Disease Control and Prevention
Atlanta, Georgia
Anne Chun-Hui Tsai, M.D., M.Sc.
The Children's Hospital
Aurora, Colorado
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
Bjarne Udd, M.D., Ph.D.
Tampere University Hospital
Tampere, Finland
Yasuyoshi Ueki, Ph.D., M.D.
Harvard School of Dental Medicine
Boston, Massachusetts
Sheila Unger, M.D.
Institute of Human Genetics
University of Freiburg
Freiburg, Germany
Katayoun Vahedi, M.D.
Hôpital Privé d’Antony
Antony, France
Rutger L. van Bezooijen, Ph.D.
Leiden University Medical Center
Leiden, The Netherlands
Hans van Bokhoven, Ph.D.
Radboud University Nijmegen Medical Centre
Nijmegen, The Netherlands
Bregje van Bon, M.D.
Radboud University Nijmegen Medical Centre
Nijmegen, The Netherlands
Vivianna Van Deerlin, M.D., Ph.D.
University of Pennsylvania Health System
Philadelphia, Pennsylvania
Ignatia B. Van den Veyver, M.D.
Baylor College of Medicine
Houston, Texas
Jeroen van der Hilst, M.D., Ph.D.
University Medical Centre Utrecht
Utrecht, The Netherlands
Marjo S. van der Knaap, M.D., Ph.D.
VU University Medical Center
Amsterdam, The Netherlands
Lionel Van Maldergem, M.D., Ph.D.
Université de Liège
Liège, Belgium
Elizabeth A. Varga, M.S., C.G.C.
Columbus Children’s Research Institute
Nationwide Children's Hospital
Columbus, Ohio
Hugo Vega, M.D., Ph.D.
Mount Sinai School of Medicine
New York, New York
Angela M. Vianna-Morgante, Ph.D.
Instituto de Biociências
Universidade de São Paulo
São Paulo, Brazil
Miikka Vikkula, M.D., Ph.D.
Université Catholique de Louvain
Brussels, Belgium
Eric J. Vilain, M.D., Ph.D.
University of California School of Medicine
Los Angeles, California
Carmen Villmann, Dr. rer. nat.
Institut für Biochemie
Universität Erlangen
Erlangen, Germany
G. Michael Vincent, M.D.
LDS Hospital
Salt Lake City, Utah
Fred R. Volkmar, M.D.
Yale University School of Medicine
New Haven, Connecticut
Kathryn Wagner, M.D., Ph.D.
The Johns Hopkins Hospital
Baltimore, Maryland
Francis O. Walker, M.D.
Wake Forest University
Winston-Salem, North Carolina
Ruth H. Walker, M.B., Ch.B., Ph.D.
Mount Sinai School of Medicine
New York, New York
Ronald J. A. Wanders, Ph.D.
Academic Medical Centre
University of Amsterdam
Amsterdam, The Netherlands
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
Stephen G. Waxman, M.D., Ph.D.
Yale University School of Medicine
New Haven, Connecticut
Debra E. Weese-Mayer, M.D.
Children's Memorial Hospital
Chicago, Illinois
Mitchell J. Weiss, M.D., Ph.D.
The Children’s Hospital of Philadelphia
Philadelphia, Pennsylvania
Dan E. Wells, Ph.D.
University of Houston
Houston, Texas
Michael J. Welsh, Ph.D.
University of Michigan Medical School
Ann Arbor, Michigan
David A. Wenger, Ph.D.
Jefferson Medical College
Philadelphia, Pennsylvania
Gregor K. Wenning, M.D., Ph.D., M.Sc.
Parkinson and Movement Disorder Centre
Medical University Innsbruck
Innsbruck, Austria
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
Melodie R. Winawer, M.D., M.S.
Columbia University
New York, New York
C. Geoffrey Woods, M.B.B.S.
Cambridge Institute for Medical Research
University of Cambridge
Cambridge, United Kingdom
Howard J. Worman, M.D.
Columbia University
New York, New York
Zbigniew Wszolek, M.D.
Mayo Clinic
Jacksonville, Florida
Rose Yang, Ph.D., M.P.H.
National Cancer Institute
National Institutes of Health
Bethesda, Maryland
Song-Yu Yang, M.D., Ph.D.
New York State Institute for Basic Research in Developmental Disabilities
Staten Island, New York
Yusuf Yazici, M.D.
Langone Medical Center
New York University
New York, New York
Rae S. M. Yeung, M.D., Ph.D.
Hospital for Sick Children
Toronto, Ontario, Canada
Maimoona A. Zariwala, Ph.D.
University of North Carolina at Chapel Hill
Chapel Hill, North Carolina
Maria Christina Zennaro, M.D., Ph.D.
l'Institut National de la Santé et de la Recherche Médicale (INSERM)
Paris, France
Huda Y. Zoghbi, M.D.
Baylor College of Medicine
Houston, Texas
Marcella Zollino, M.D.
Università Cattolica Sacro Cuore
Rome, Italy
Jonathan Zonana, M.D.
Oregon Health and Science University
Portland, Oregon
Stephan Züchner, M.D.
University of Miami Miller School of Medicine
Miami, Florida
Bruce L. Zuraw, M.D.
University of California, San Diego
La Jolla, California
 
Published: February 6, 2012