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Expert Reviewers

Genetics Home Reference's information about genetic conditions, genes, chromosomes, and gene families is reviewed by experts from the worldwide scientific community before posting and with each substantial revision thereafter. The date of the last review is noted in each summary. Experts do not review gene information that was extracted automatically from online scientific databases.

FAQs for expert reviewers

Genetics Home Reference gratefully acknowledges the contributions of its expert reviewers:

Expert ReviewerInstitutional Affiliation
David H. Abramson, M.D.
Memorial Sloan-Kettering Cancer Center
New York, New York
Steven J. Ackerman, Ph.D
University of Illinois at Chicago
Margaret P. Adam, M.D.
Emory University
Decatur, Georgia
Anil K. Agarwal, Ph.D.
University of Texas Southwestern Medical Center
Dallas, Texas
Amy Akers, Ph.D.
Angioma Alliance
Durham, North Carolina
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
Majid Alfadhel, M.D., M.H.Sc.
King Saud Bin Abdulaziz University for Health Sciences
Riyadh, Saudi Arabia
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
Seth L. Alper, M.D., Ph.D.
Beth Israel Deaconess Medical Center
Boston, Massachusetts
Mounira Amor-Guéret, Ph.D.
Institut Curie
Orsay, France
Jeffrey B. Anderson, M.D., M.P.H.
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio
Karl E. Anderson, M.D.
University of Texas Medical Branch
Galveston, Texas
Corrado Angelini, M.D.
University of Padova
Padova, Italy
Jie An, Ph.D.
University of Washington
Seattle, Washington
Christian Antolik, Ph.D.
National Eye Institute
National Institutes of Health
Bethesda, Maryland
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
Heleen Arts, Ph.D.
Radboud University Nijmegen Medical Centre
Nijmegen, The Netherlands
Rosanna Asselta, Ph.D.
University of Milan
Milan, Italy
Nazem Atassi, M.D.
Massachusetts General Hospital
Boston, Massachusetts
John P. Atkinson, M.D.
Division of Rheumatology
Washington University School of Medicine
St. Louis, Missouri
Arleen Auerbach, Ph.D.
The Rockefeller University
New York, New York
Michaela Auer-Grumbach, M.D.
Medical University of Graz
Graz, Austria
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
Catherine Badens, Ph.D.
Children's Hospital La Timone
Marseille, France
Nadia Bahi-Buisson, M.D., Ph.D.
Necker-Enfants Malades Hospital
Paris, France
Barbara Bain, M.B.B.S.
St. Mary’s Hospital
Imperial College
London, United Kingdom
Sherri J. Bale, Ph.D.
GeneDx, Inc.
Gaithersburg, Maryland
Deeksha S. Bali, Ph.D.
Duke University Medical Center
Durham, North Carolina
Sergio E. Baranzini, Ph.D.
University of California, San Francisco
San Francisco, California
Barbara Bardoni, Ph.D.
Institute of Molecular and Cellular Pharmacology
National Institute of Health and Medical Research (INSERM)
Valbonne, France
Peter G. Barth, M.D.
University of Amsterdam
Amsterdam, The Netherlands
Anne Barton, Ph.D.
The University of Manchester
Manchester, United Kingdom
Anne S. Bassett, M.D.
Centre for Addiction and Mental Health
Toronto, Ontario, Canada
Craig T. Basson, M.D., Ph.D.
Weill Cornell Medical College
Cornell University
New York, New York
Daniel Batlle, M.D.
Northwestern University
Chicago, Illinois
Michael H. Baumann, M.D., M.S.
University of Mississippi Medical Center
Jackson, Mississippi
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, United Kingdom
Michael A. Becker, M.D.
The University of Chicago Pritzker School of Medicine
Chicago, Illinois
Albert Beckers, M.D., Ph.D.
University of Liège
Liège, Belgium
Alicia Belgorosky, M.D, Ph.D.
Hospital de Pediatria Garrahan
Buenos Aires, Argentina
Elisabeth Bendstrup, M.D., Ph.D.
Aarhus University
Aarhus, Denmark
Merrill D. Benson, M.D.
Indiana University School of Medicine
Indianapolis, Indiana
Enrico Bertini, M.D.
Bambino Gesu Children’s Research Hospital
Rome, Italy
Robert G. Best, Ph.D.
University of South Carolina
Columbia, South Carolina
Roberta Biancheri, M.D., Ph.D.
University of Genoa
Genoa, Italy
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
Berenice Bilharinho de Mendonça, M.D., Ph.D.
University of Sao Paulo
Sao Paulo, Brazil
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.
Institute of Child Health
University College London
London, United Kingdom
Cornelius F. Boerkoel, M.D., Ph.D.
University of British Columbia
Vancouver, British Columbia, Canada
Richard G. Boles, M.D.
Children's Hospital Los Angeles
Los Angeles, California
Luisa Bonafé, M.D., Ph.D.
Lausanne University Hospital
Lausanne, Switzerland
Annet M. Bosch, M.D., Ph.D.
University Hospital of Amsterdam
Amsterdam, The Netherlands
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
James L. Boyer, M.D.
Yale University School of Medicine
New Haven, Connecticut
Olivier Braissant, Ph.D.
University of Lausanne
Lausanne, Switzerland
Allison Brashear, M.D.
Wake Forest University School of Medicine
Winston-Salem, North Carolina
Campbell K. Brasington, M.S., C.G.C.
Levine Children's Hospital at Carolinas Medical Center
Charlotte, North Carolina
Daniela A. Braun, M.D.
Boston Children's Hospital
Harvard Medical School
Boston, Massachusetts
Markus Braun-Falco, M.D.
Ludwig Maximilian University Munich
Munich, Germany
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.
Seattle Children’s Hospital
Seattle, Washington
Wolfgang Briegel, M.D.
Leopoldina Hospital
Schweinfurt, Germany
Robert A. Brodsky, M.D.
Johns Hopkins Medicine
Baltimore, Maryland
Robert M. Brosh Jr., Ph.D.
National Institute on Aging
National Institutes of Health
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
Bettina Burger, Ph.D.
University Hospital Basel
Basel, Switzerland
Susan Burge, D.M.
Oxford Radcliffe Hospitals
NHS Trust
Oxford, United Kingdom
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
Philippe M. Campeau, M.D.
Baylor College of Medicine
Houston, Texas
Carlos Cardoso, Ph.D.
Mediterranean Institute of Neurobiology
National Institute of Health and Medical Research (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
Irène Ceballos-Picot, Pharm.D., Ph.D.
Necker-Enfants Malades Hospital
Paris, France
Julide T. Celebi, M.D.
Columbia University Medical Center
New York, New York
Benjamin Chaigne-Delalande, Ph.D.
National Institute of Allergy and Infectious Diseases
National Institutes of Health
Bethesda, Maryland
Ben G. Challis, M.Phil., Ph.D.
Addenbrooke’s Hospital
Cambridge, United Kingdom
Bernard S. Chang, M.D., M.M.Sc.
Beth Israel Deaconess Medical Center
Boston, Massachusetts
Annabelle Chaussenot, M.D.
Nice Teaching Hospital
Nice, France
Harold Chen, M.D.
Louisiana State University Health Sciences Center
Shreveport, Louisiana
Keith A. Choate, M.D., Ph.D.
Yale University School of Medicine
New Haven, Connecticut
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
Daniel H. Cohn, Ph.D.
Cedars-Sinai Medical Center
Los Angeles, California
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
Edwin H. Cook Jr., M.D.
University of Illinois
Chicago, Illinois
Mark R. Cookson, Ph.D.
National Institute on Aging
National Institutes of Health
Bethesda, Maryland
Giangennaro Coppola, M.D.
University of Salerno
Salerno, Italy
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
Yanick Crow, M.B.B.S., M.R.C.P., Ph.D.
University of Manchester
Manchester, United Kingdom
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
Adrian F. Daly, M.B., B.Ch., Ph.D.
University of Liège
Liège, Belgium
Basil Darras, M.D.
Children's Hospital Boston
Boston, Massachusetts
Mehul T. Dattani, M.D.
UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust
London, United Kingdom
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
Matthew A. Deardorff, M.D., Ph.D.
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania
Pietro De Camilli, M.D.
Yale University School of Medicine
New Haven, Connecticut
Mauricio de Castro-Pretelt, M.D.
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland
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
Peter De Jonghe, M.D., Ph.D.
University of Antwerp
Antwerp, Belgium
Tom J. de Koning, M.D, Ph.D.
University Medical Center Groningen
Groningen, The Netherlands
Diva D. De León-Crutchlow, M.D.
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania
Anneke den Hollander, Ph.D.
Nijmegen Centre for Molecular Life Sciences
Nijmegen, The Netherlands
Vazken M. Der Kaloustian, M.D.
McGill University
Montreal, Quebec, Canada
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
Olivier Devuyst, M.D., Ph.D.
Université Catholique de Louvain Medical School
Brussels, Belgium
Robert B. Diasio, M.D.
Mayo Clinic
Rochester, Minnesota
Francisca Diaz, Ph.D.
University of Miami
Miami, Florida
Thomas Dierks, Ph.D.
Bielefeld University
Bielefeld, Germany
Harry C. Dietz, M.D.
Johns Hopkins University School of Medicine
Baltimore, Maryland
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
Catherine Dodé, Ph.D.
L'Université Paris Descartes
Paris, France
Emily Doherty, M.D.
Carilion Pediatric Clinic
Roanoke, Virginia
Hartmut Döhner, M.D.
University Hospital, Ulm
Ulm, Germany
John P. Dormans, M.D.
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
David A. Dyment, M.D., D.Phil.
Children's Hospital of Eastern Ontario
Ottawa, Ontario, Canada
Michael J. Econs, M.D.
Indiana University School of Medicine
Indianapolis, Indiana
Damon P. Eisen, M.D.
Royal Melbourne Hospital
Parkville, Victoria, Australia
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
Juvianee I. Estrada-Veras, M.D.
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland
Virgilio H. Evidente, M.D.
Mayo Clinic
Scottsdale, Arizona
Lynette Fairbanks, Ph.D.
St Thomas' Hospital
London, United Kingdom
Tzipora Falik-Zaccai, M.D.
Western Galilee Hospital
Nahariya, Israel
Peter G. Farlie, Ph.D.
Royal Children's Hospital
Parkville, Victoria, Australia
Sadaf Farooqi, M.D., Ph.D.
University of Cambridge
Cambridge, United Kingdom
Ilse Feenstra, M.D, Ph.D.
Radboud University Nijmegen Medical Centre
Nijmegen, The Netherlands
David Feldman, M.D.
Stanford University School of Medicine
Stanford, California
Sacha Ferdinandusse, Ph.D.
University of Amsterdam
Amsterdam, The Netherlands
Polly Ferguson, M.D.
University of Iowa Carver College of Medicine
Iowa City, Iowa
Jorge Filmus, Ph.D.
University of Toronto
Toronto, Ontario, Canada
Karin E. Finberg, M.D., Ph.D.
Yale University School of Medicine
New Haven, Connecticut
Helen V. Firth, D.M., D.C.H.
Addenbrooke's Hospital
Cambridge, United Kingdom
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
Blas Frangione, M.D., Ph.D.
Alzheimer’s Disease Research Center
New York University Langone Medical Research Center
New York, New York
Eirik Frengen, Ph.D.
University of Oslo and Oslo University Hospital
Oslo, Norway
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., Ph.D.
University of Juntendo
Tokyo, Japan
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
Martin J. Gallagher, M.D., Ph.D.
Vanderbilt University Medical Center
Nashville, Tennessee
Maria Mercedes Garcia-Barceló, Ph.D.
University of Hong Kong
Pokfulam, Hong Kong
Hanna T. Gazda, M.D.
Children's Hospital Boston
Boston, Massachusetts
Elizabetta Gazzerro, M.D.
University of Genoa
Genoa, Italy
Jozef Gécz, Ph.D.
University of Adelaide
Adelaide, Australia
Raif S. Geha, M.D.
Harvard Medical School
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
William T. Gibson, M.D., Ph.D.
Child and Family Research Institute
Vancouver, British Columbia, Canada
Anne-Paule Gimenez-Roqueplo, M.D., Ph.D.
Hôpital Européen Georges Pompidou
Paris, France
Antonio Girolami, M.D.
University of Padua Medical School
Padua, Italy
Jonathan D. Gitlin, M.D.
Washington University School of Medicine
St. Louis, Missouri
Ian A. Glass, M.D.
Seattle Children’s Hospital, Research and Foundation
Seattle, Washington
Peter Gloviczki, M.D.
Mayo Clinic
Rochester, Minnesota
Raphaela Goldbach-Mansky, M.D., M.H.S.
National Institute of Arthritis and Musculoskeletal and Skin Diseases
National Institutes of Health
Bethesda, Maryland
Charles A. Goldfarb, M.D.
Washington University School of Medicine
St. Louis, Missouri
Jennifer L. Goldstein, Ph.D., C.G.C.
Duke University Medical Center
Durham, North Carolina
Michael Gollob, M.D.
University of Ottawa Heart Institute
Ottawa, Ontario, Canada
Aldrin V. Gomes, Ph.D.
University of California, Davis
Davis, California
Victor R. Gordeuk, M.D.
University of Illinois at Chicago
Chicago, Illinois
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
László Góth, Ph.D., D.Sc.
University of Debrecen
Debrecen, Hungary
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
Dorothy K. Grange, M.D.
Washington University School of Medicine
St. Louis, Missouri
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 & Science University
Portland, Oregon
Pierre Gressens, M.D., Ph.D.
Robert Debré University Hospital
Paris, France
Andrew J. Griffith, M.D., Ph.D.
National Institute on Deafness and Other Communication Disorders
National Institutes of Health
Bethesda, Maryland
Karen W. Gripp, M.D.
Nemours/Alfred I. duPont Hospital for Children
Wilmington, Delaware
Wayne W. Grody, M.D., Ph.D.
University of California, Los Angeles, School of Medicine
Los Angeles, California
Leif Groop, M.D., Ph.D.
Lund University
Malmö, Sweden
Paul D. Grossfeld, M.D.
University of California, San Diego
San Diego, California
Marie Claire Gubler, M.D.
Necker-Enfants Malades Hospital
Paris, France
Andrea Guerin, M.D.
The Hospital for Sick Children
Toronto, Ontario, Canada
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
Samuel Gurevitz, Pharm.D.
College of Pharmacy/Health Science
Butler University
Indianapolis, Indiana
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
Angelika F. Hahn, M.D.
University of Western Ontario
London, Ontario, Canada
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
Kristoffer Haugarvoll, M.D., Ph.D.
University of Bergen
Bergen, Norway
Carrie L. Heike, M.D., M.S.
Seattle Children's Hospital
Seattle, Washington
Patrice Held, Ph.D.
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland
Raoul C. M. Hennekam, M.D., Ph.D.
University of Amsterdam
Amsterdam, The Netherlands
Karen L. Herbst, Ph.D., M.D.
University of California, San Diego
San Diego, California
Ray E. Hershberger, M.D.
Dorothy M. Davis Heart and Lung Research Institute
Wexner Medical Center at The Ohio State University
Columbus, Ohio
Michael Hershfield, M.D.
Duke University Medical Center
Durham, North Carolina
Eli Hershkovitz, M.D.
Pedatric Endocrine Unit
Soroka Medical Center and Ben Gurion University of the Negev
Beer Sheva, Israel
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
Friedhelm Hildebrandt, M.D.
Boston Children’s Hospital
Harvard Medical School
Boston, Massachusetts
Harry R. Hill, M.D.
University of Utah School of Medicine
Salt Lake City, Utah
Richard E. Hillman, M.D.
University of Missouri
Columbia, Missouri
Michio Hirano, M.D.
Columbia University Medical Center
New York, New York
Carolyn Y. Ho, M.D.
Brigham and Women’s Hospital
Boston, Massachusetts
Daniel Hohl, M.D.
University Hospital of Lausanne
Lausanne, Switzerland
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
Denise Horn, PD.Dr.Med.
Charité-University Hospital Berlin
Berlin, Germany
Jason L. Hornick, M.D., Ph.D.
Brigham and Women's Hospital and Harvard Medical School
Boston, Massachusetts
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., Ph.D.
Institute of Neurology and The National Hospital for Neurology and Neurosurgery
London, United Kingdom
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.
University of Texas MD Anderson Cancer Center
Houston, Texas
David G. Huntsman, M.D.
British Columbia Cancer Agency
Vancouver, British Columbia, Canada
M. Mahmood Hussain, Ph.D.
SUNY Downstate Medical Center
Brooklyn, New York
Sam T. Hwang, M.D., Ph.D.
Medical College of Wisconsin
Milwaukee, Wisconsin
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, United Kingdom
Jaak Jaeken, M.D., Ph.D.
University Hospital Gasthuisberg
Leuven, Belgium
Ashish Jain, M.D.
National Institute of Allergy and Infectious Diseases
National Institutes of Health
Bethesda, Maryland
Andreas Janecke, M.D.
Innsbruck Medical University
Innsbruck, Austria
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
Penny A. Jeggo, Ph.D.
University of Sussex
Brighton, United Kingdom
Joanna C. Jen, M.D., Ph.D.
David Geffen School of Medicine
University of California, Los Angeles
Los Angeles, California
Milan Jirsa, M.D., Ph.D.
Institute for Clinical and Experimental Medicine
Prague, Czech Republic
Albena Jordanova, Ph.D.
University of Antwerp
Antwerp, Belgium
Karin Jurkat-Rott, M.D., Ph.D.
Ulm University
Ulm, Germany
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, Western Australia
Stephen G. Kaler, M.D., M.P.H.
Eunice Kennedy Shriver National Institute of Child Health and Human Development
National Institutes of Health
Bethesda, Maryland
Nobuo Kanazawa, M.D., Ph.D.
Wakayama Medical University
Wakayama, Japan
Sibel Kantarci, M.S., Ph.D.
Beth Israel Deaconess Medical Center
Boston, Massachusetts
Anna Karlsson, M.D., Ph.D.
Karolinska University
Stockholm, Sweden
Clifford E. Kashtan, M.D.
University of Minnesota Medical School
Minneapolis, Minnesota
Mitsuhiro Kato, M.D., Ph.D.
Yamagata University
Yamagata, Japan
Michael A. Kayser, D.O.
Warren Clinic Center for Genetics
Center for Genetic Testing at Saint Francis
Tulsa, Oklahoma
Electron Kebebew, M.D.
National Cancer Institute
National Institutes of Health
Bethesda, Maryland
Meg F. Keil, Ph.D.
Eunice Kennedy Shriver National Institute of Child Health and Human Development
National Institutes of Health
Bethesda, Maryland
Richard I. Kelley, M.D., Ph.D.
Kennedy Krieger Institute
Baltimore, Maryland
David Kelsell, Ph.D.
Barts and The London School of Medicine and Dentistry
London, United Kingdom
Stephan Kemp, Ph.D.
University of Amsterdam
Amsterdam, The Netherlands
Muhammad Asim Khan, M.D.
Case Western Reserve University
Cleveland, Ohio
Ahmed Khattab, M.D.
Northwestern University
Chicago, Illinois
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
Christine Klein, M.D.
University of Luebeck
Luebeck, Germany
Christopher J. Klein, M.D.
Mayo Clinic
Rochester, Minnesota
Antonie D. Kline, M.D.
Greater Baltimore Medical Center
Baltimore, Maryland
Gordon K. Klintworth, M.D., Ph.D.
Duke University Medical Center
Durham, North Carolina
Amy D. Klion, M.D.
National Institute of Allergy and Infectious Diseases
National Institutes of Health
Bethesda, Maryland
Barbara Kloeckener, Ph.D.
Institute of Medical Genetics
University of Zurich
Schwerzenbach, Switzerland
Stanislav Kmoch, Ph.D.
Charles University in Prague
Prague, Czech Republic
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.
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
Lisa E. Kratz, Ph.D.
Kennedy Krieger Institute
Baltimore, 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
Scott R. Lambert, M.D.
Emory Eye Center
Emory University
Atlanta, Georgia
Phillipa Lamont, Ph.D.
Royal Perth Hospital
Perth, Western Australia
Lutz Langbein, Ph.D.
German Cancer Research Center
Heidelberg, Germany
Jacob C. Langer, M.D.
Hospital for Sick Children
Toronto, Ontario, Canada
Anna Lauber-Biason, M.D.
University Children’s Hospital
Zurich, Switzerland
Victoria Lawson, M.D.
Ohio State University
Columbus, Ohio
Alexander Lazar, M.D., Ph.D.
University of Texas MD Anderson Cancer Center
Houston, Texas
Brendan Lee, M.D., Ph.D.
Baylor College of Medicine
Houston, Texas
Jerry B. Lefkowitz, M.D.
Weill Cornell Medical College
Cornell University
New York, New York
Eric Legius, M.D., Ph.D.
Catholic University Leuven
Leuven, Belgium
Leslie Leinwand, Ph.D.
University of Colorado Boulder
Boulder, Colorado
Stephen Lessnick, M.D., Ph.D.
University of Utah School of Medicine
Salt Lake City, Utah
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
Keith D. Lindor, M.D.
Arizona State University
Tempe, Arizona
Noralane M. Lindor, M.D.
Mayo Clinic
Rochester, Minnesota
Matthew Lines, M.D.
Children’s Hospital of Eastern Ontario
Ottawa, 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
Yin Liu, Ph.D.
National Institute of Arthritis and Musculoskeletal and Skin Diseases
National Institutes of Health
Bethesda, Maryland
Oksana Lockridge, Ph.D.
University of Nebraska Medical Center
Omaha, Nebraska
Bart Loeys, M.D., Ph.D.
Antwerp University Hospital
Antwerp, Belgium
Jamie Lo, M.D.
Oregon Health & Science University
Portland, Oregon
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
Daniela Luquetti, M.D., Ph.D.
Center for Developmental Biology and Regenerative Medicine
Seattle Children's Hospital
Seattle, Washington
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
Masato Maekawa, M.D., Ph.D.
Hamamatsu University School of Medicine
Hamamatsu, Japan
Outi Mäkitie, M.D., Ph.D.
University of Helsinki
Helsinki, Finland
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
Forbes D. C. Manson, Ph.D.
University of Manchester
Manchester, United Kingdom
Douglas A. Marchuk, Ph.D.
Duke University Medical Center
Durham, North Carolina
Joan C. Marini, M.D., Ph.D.
Eunice Kennedy Shriver National Institute of Child Health and Human Development
National Institutes of Health
Bethesda, Maryland
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
John A. Martignetti, M.D., Ph.D.
Icahn School of Medicine at Mount Sinai
New York, New York
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
John A. McGrath, M.D.
St. John’s Institute of Dermatology
King’s College London
London, United Kingdom
William J. McKenna, M.D.
The Heart Hospital
University College London
London, United Kingdom
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
Rakesh P. Mehta, M.D.
Indiana University
Indianapolis, Indiana
Meira R. Meltzer, M.A., M.S.
National Eye Institute
National Institutes of Health
Bethesda, Maryland
Louise Merkens, Ph.D.
Oregon Health & Science University
Portland, Oregon
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
Michael Miller, M.D.
University of Maryland School of Medicine
Baltimore, Maryland
Nancy Hadley Miller, M.D.
Children’s Hospital Colorado
Aurora, Colorado
Gunda Millonig, M.D.
University of Heidelberg
Heidelberg, Germany
Jeff Milunksy, M.D.
Boston University School of Medicine
Boston, Massachusetts
Roberto N. Miranda, M.D.
University of Texas MD Anderson Cancer Center
Houston, Texas
Ghayda Mirzaa, M.D.
Seattle Children's Research Institute
Seattle, Washington
Grant Mitchell, M.D.
CHU Sainte-Justine Centre de Recherche
University of Montreal
Montreal, Quebec, Canada
Søren Kragh Moestrup, M.D., Ph.D.
University of Aarhus
Aarhus, Denmark
Robert S. Molday, Ph.D.
University of British Columbia
Vancouver, British Columbia, Canada
Ute Moog, M.D., Ph.D.
Heidelberg University
Heidelberg, Germany
Marcelle Morrison-Bogorad, Ph.D.
National Institute on Aging
National Institutes of Health
Bethesda, Maryland
Peter Mortimer, M.D.
University of London
London, United Kingdom
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
Kelly W. Muir, M.D., M.H.Sc.
Duke University School of Medicine
Durham, North Carolina
Eric Muller, M.D., Ph.D.
Sutter Pacific Medical Foundation
San Francisco, California
Toru Nagao, D.D.S., Ph.D., D.M.Sc.
Okazaki City Hospital
Aichi, Japan
Martha A. Nance, M.D.
Park Nicollet Clinic
Saint Louis Park, Minnesota
David R. Nash, M.D.
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania
Marguerite Neerman-Arbez, Ph.D.
University of Geneva
Geneva, Switzerland
Sergey Nejentsev, M.D., Ph.D.
University of Cambridge
Cambridge, United Kingdom
David L. Nelson, Ph.D.
Baylor College of Medicine
Houston, Texas
Elizabeth F. Neufeld, Ph.D.
University of California, Los Angeles
Los Angeles, California
William Newman, Ph.D.
University of Manchester
Manchester, United Kingdom
Maria I. New, M.D.
Mount Sinai School of Medicine
New York, New York
Ebba Nexø, Dr.Med.Sci., M.D.
Aarhus University Hospital
Aarhus, Denmark
Norio Niikawa, M.D., Ph.D.
Health Sciences University of Hokkaido
Hokkaido, Japan
Sarah Nikkel, M.D.
Children's Hospital of Eastern Ontario
Ottawa, Ontario, Canada
Lee A. Niswander, Ph.D.
University of Colorado Health Sciences Center
Aurora, Colorado
Janelle A. Noble, Ph.D.
Children's Hospital Oakland Research Institute
Oakland, California
Lawrence M. Nogee, M.D.
Johns Hopkins University School of Medicine
Baltimore, Maryland
Marina Noris, Ph.D.
Mario Negri Institute for Pharmacological Research
Bergamo, Italy
Benjamin Nota, Ph.D.
VU University Medical Center
Amsterdam, The Netherlands
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
Ferenc Orosz, Ph.D.
Hungarian Academy of Sciences
Budapest, Hungary
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
Thomas Pabst, M.D.
University of Bern
Bern, Switzerland
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
Peter Paschka, M.D.
University Hospital, Ulm
Ulm, Germany
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.
Sanford School of Medicine
University of South Dakota
Sioux Falls, South Dakota
Simon Pearce, M.D.
Institute of Genetic Medicine
Newcastle University
Newcastle upon Tyne, United Kingdom
Phillip L. Pearl, M.D.
Children's National Medical Center
Washington, District of Columbia
Florence Pedeutour, Ph.D.
University Hospital Center, Nice
Nice, France
Philippe Pellerin, M.D., Ph.D.
French National Center for Rare Craniomaxillofacial Malformations
Roger Salengro Hospital, University Hospital of Lille
Lille, France
Sirkku Peltonen, M.D., Ph.D.
Turku University Hospital
Turku, Finland
Vittorio Pengo, M.D.
University of Padova
Padova, Italy
Melanie J. Percy, Ph.D.
Belfast City Hospital
Belfast, Northern Ireland, United Kingdom
Susan L. Perlman, M.D.
David Geffen School of Medicine
University of California, Los Angeles
Los Angeles, California
Elizabeth M. Petty, M.D.
University of Wisconsin School of Medicine and Public Health
Madison, Wisconsin
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
Claudio Pignata, M.D., Ph.D.
Federico II University
Naples, Italy
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 Diseases
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.
University of Texas Southwestern Medical Center
Dallas, Texas
Anthony A. Portale, M.D.
University of California San Francisco
San Francisco, California
Forbes D. Porter, M.D., Ph.D.
Eunice Kennedy Shriver National Institute of Child Health and Human Development
National Institutes of Health
Bethesda, Maryland
Lorraine Potocki, M.D.
Baylor College of Medicine
Houston, Texas
Sampath Prahalad, M.D.
Emory University School of Medicine
Atlanta, Georgia
Silvia G. Priori, M.D., Ph.D.
Langone Medical Center
New York University
New York, New York
Thomas W. Prior, Ph.D.
Ohio State University College of Medicine
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
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
Shane Quinonez, M.D.
University of Michigan
Ann Arbor, Michigan
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
Jochen Reiss, Ph.D.
University Medical Center Goettingen
Goettingen, Germany
Raffaele Renella, M.D.
Weatherall Institute of Molecular Medicine
The John Radcliffe Hospital - Headington
Oxford, United Kingdom
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
Andrea Riccio, M.D., Ph.D.
Second University of Naples
Naples, Italy
Gillian Rice, M.D.
University of Manchester
Manchester, United Kingdom
Andrea Richter, Ph.D.
CHU Sainte-Justine Centre de Recherche
University of Montreal
Montreal, Quebec, Canada
Thereasa Rich, M.S., C.G.C.
University of Texas 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
Anthony G. Robson, Ph.D.
Moorfields Eye Hospital
London, United Kingdom
Eyvind Rødahl, M.D., Ph.D.
Haukeland University Hospital
Bergen, Norway
Raquel Rodriguez-Lopez, Ph.D.
Infanta Cristina Hospital
Badajoz, Spain
Ina Rohwedder
Walter Brendel Center of Experimental Medicine
Ludwig-Maximilians Uninversity
Munich, Germany
Tony Roscioli, M.B.B.S.
Prince of Wales Hospital
Sydney, Australia
Carlos D. Rosé, M.D.
Nemours/Alfred I. duPont Hospital for Children
Wilmington, Delaware
Henry Rosenberg, M.D.
Saint Barnabas Medical Center
Livingston, New Jersey
Judith L. Ross, M.D.
Thomas Jefferson University
Philadelphia, Pennsylvania
Daniela Rotin, Ph.D.
The Hospital for Sick Children
Toronto, Ontario, Canada
Tracey A. Rouault, M.D.
Eunice Kennedy Shriver 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
Jean-Michel Rozet, M.D.
Necker-Enfants Malades Hospital
Paris, France
Victor L. Ruiz-Perez, Ph.D.
Instituto de Investigaciones Biomédicas de Madrid
Madrid, Spain
Monique M. Ryan, M.B., M.S., M.Med.
Royal Children's Hospital
Parkville, Victoria, 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
Riitta Salonen, M.D., Ph.D.
Väestöliitto, The Family Federation of Finland
Helsinki, Finland
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
Jörn Oliver Sass, Ph.D.
Klinische Chemie und Biochemie
Universitäts-Kinderspital Zürich - Eleonorenstiftung
Zurich, Switzerland
Sivakumar Sathasivam, Ph.D.
The Walton Centre for Neurology and Neurosurgery
Liverpool, United Kingdom
Sharon Savage, M.D.
National Cancer Institute
National Institutes of Health
Rockville, Maryland
Ravi Savarirayan, M.D.
Murdoch Childrens Research Institute
Royal Children's Hospital
Victoria, Australia
Anna Savoia, Ph.D.
University of Trieste
Trieste, Italy
Peter Scambler, M.D.
University College London Institute of Child Health
London, United Kingdom
G. Bradley Schaefer, M.D.
University of Nebraska Medical Center
Omaha, Nebraska
Paul J. Scheel Jr., M.D., M.B.A.
Johns Hopkins University School of Medicine
Baltimore, Maryland
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
Joseph Schlessinger, Ph.D.
Yale University School of Medicine
New Haven, Connecticut
Lars Schlotawa, Dr. Med.
University Medical Center Goettingen
Goettingen, Germany
Adele Schneider, M.D.
Albert Einstein Medical Center
Philadelphia, Pennsylvania
Daniel Schorderet, M.D.
Institute for Research in Ophthalmology
Sion, Switzerland
Edward Schuchman, Ph.D.
Mount Sinai School of Medicine
New York, New York
Charles E. Schwartz, Ph.D.
Greenwood Genetic Center
Greenwood, South Carolina
Daryl A. Scott, M.D., Ph.D.
Baylor College of Medicine
Houston, Texas
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
Robert K. Semple, Ph.D.
University of Cambridge
Cambridge, United Kingdom
Partha Sen, Ph.D.
Baylor College of Medicine
Houston, Texas
Alan E. Seyfer, M.D.
Uniformed Services University of the Health Sciences
Bethesda, Maryland
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
Akiko Shimamura, M.D., Ph.D.
University of Washington
Seattle, Washington
Yutaka Shimomura, M.D., Ph.D.
Niigata University
Niigata, Japan
Marwan Shinawi, M.D.
Baylor College of Medicine
Houston, Texas
Yehuda Shoenfeld, M.D.
Sheba Medical Center
Tel Aviv University
Tel Aviv, Israel
Eileen M. Shore, Ph.D.
University of Pennsylvania
Philadelphia, Pennsylvania
Cheryl Shoubridge, Ph.D.
University of Adelaide
North Adelaide, Australia
Michael E. Shy, M.D.
Wayne State University School of Medicine
Detroit, Michigan
Gabriele Siciliano, M.D., Ph.D.
University of Pisa
Pisa, Italy
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
William F. Simonds, M.D.
National Institute of Diabetes and Digestive and Kidney Diseases
National Institutes of Health
Bethesda, Maryland
Tony J. Simon, Ph.D.
UC Davis Health System
Sacramento, California
Ingrid Slade, M.B.Ch.B., Ph.D.
Institute of Cancer Research
Surrey, United Kingdom
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
Rima Slim, Ph.D.
McGill University
Montreal, Quebec, Canada
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
Laura Southgate, Ph.D.
King's College London
London, United Kingdom
Siân D. Spacey, M.D.
University of British Columbia
Vancouver, British Columbia, Canada
Susan E. Sparks, M.D., Ph.D.
Levine Children's Hospital at Carolinas Medical Center
Charlotte, North Carolina
Markus Sperandio, M.D.
Walter Brendel Center of Experimental Medicine
Ludwig-Maximilians Uninversity
Munich, Germany
Nancy B. Spinner, Ph.D.
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania
Graciela Spivak, Ph.D.
Stanford University
Stanford, California
Igor Splawski, Ph.D.
Harvard Medical School
Boston, Massachusetts
Eli Sprecher, M.D., Ph.D.
Tel Aviv Sourasky Medical Center
Tel Aviv, Israel
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
Eva-Lena Stattin, M.D., Ph.D.
Uppsala University Children's Hospital
Uppsala, Sweden
Robert Steinfeld, M.D., Ph.D.
Georg August University Goettingen
Goettingen, Germany
Sarah Stein, M.D.
University of Chicago
Chicago, Illinois
Cathy A. Stevens, M.D.
University of Tennessee
Chattanooga, Tennessee
Bruno Stieger, Ph.D.
University Hospital Zurich
Zurich, Switzerland
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.
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, United Kingdom
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
Patrizia Tarugi, Ph.D.
University of Modena and Reggio Emilia
Modena, Italy
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
Mustafa Tekin, M.D.
John P. Hussman Institute for Human Genomics
Miami, Florida
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
Claudia Testa, M.D., Ph.D.
Virginia Commonwealth University
Richmond, Virginia
Anna Teti, Ph.D.
University of L'Aquila
L'Aquila, Italy
Leen M. ’t Hart, Ph.D.
Leiden University Medical Center
Leiden, The Netherlands
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
Yaron Tomer, M.D.
Mount Sinai School of Medicine
New York, New York
Carmel Toomes, Ph.D., B.Sc.
University of Leeds
Leeds, United Kingdom
Helga V. Toriello, Ph.D.
Spectrum Health
Grand Rapids, Michigan
Jorge R. Toro, M.D.
National Cancer Institute
National Institutes of Health
Bethesda, Maryland
David Torpy, M.D., Ph.D.
Royal Adelaide Hospital
Adelaide, Australia
Antonio Toscano, M.D.
University of Messina
Messina, Italy
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
Karin Tuschl, M.D.
Institute of Child Health
University College London
London, United Kingdom
Bjarne Udd, M.D., Ph.D.
Tampere University Hospital
Tampere, Finland
Yasuyoshi Ueki, Ph.D., M.D.
Harvard School of Dental Medicine
Boston, Massachusetts
Cristina Ugalde, Ph.D.
Centre for Biomedical Network Research on Rare Diseases
Madrid, Spain
Jouni Uitto, M.D., Ph.D.
Jefferson Medical College
Philadelphia, Pennsylvania
Sheila Unger, M.D.
Institute of Human Genetics
University of Freiburg
Freiburg, Germany
Zsolt Urban, Ph.D.
University of Pittsburgh
Pittsburgh, Pennsylvania
Katayoun Vahedi, M.D.
Hôpital Privé d’Antony
Antony, France
Peter J. M. Valk, Ph.D.
Rasmus University Medical Center
Rotterdam, The Netherlands
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
Arn M. J. M. van den Maagdenberg, Ph.D.
Leiden University Medical Center
Leiden, The Netherlands
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
Adeline Vanderver, M.D.
Children's National Medical Center
Washington, District of Columbia
Mireille Van Gele, Ph.D.
Ghent University Hospital
Ghent, Belgium
André B. P. van Kuilenburg, Ph.D.
Academic Medical Center
Amsterdam, The Netherlands
Lionel Van Maldergem, M.D., Ph.D.
University of Liège
Liège, Belgium
Maurice A. M. van Steensel, M.D., Ph.D.
Maastricht University
Maastricht, The Netherlands
Richard van Wijk, Ph.D.
University Medical Center Utrecht
Utrecht, The Netherlands
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
Reiner A. Veitia, Ph.D.
University of Paris
Paris, France
Alain Verloes, M.D., Ph.D.
Robert Debré University Hospital
Paris, France
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.
Erlangen University
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
Anneke Vulto-van Silfhout, M.D.
Radboud University Nijmegen Medical Centre
Nijmegen, The Netherlands
Kathryn Wagner, M.D., Ph.D.
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
Michael Walter, Ph.D.
University of Alberta
Alberta, Edmonton, Canada
Ronald J. A. Wanders, Ph.D.
Academic Medical Center
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 - Center 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
Sarah Weckhuysen, M.D.
University of Antwerp
Antwerp, Belgium
Debra E. Weese-Mayer, M.D.
Children's Memorial Hospital
Chicago, Illinois
Brian G. Weinshenker, M.D.
Mayo Clinic
Rochester, Minnesota
Mitchell J. Weiss, M.D., Ph.D.
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 C. Whitcomb, M.D., Ph.D.
University of Pittsburgh
Pittsburgh, Pennsylvania
Kenneth E. White, Ph.D.
Indiana University School of Medicine
Indianapolis, Indiana
Perrin C. White, M.D.
University of Texas Southwestern Medical Center
Dallas, Texas
Thomas W. White, Ph.D.
Stony Brook University Medical Center
Stony Brook, New York
David A. Whiting, M.D.
Baylor Hair Research and Treatment Center
Dallas, Texas
Dagmar Wieczorek, M.D.
University Duisburg-Essen
Essen, Germany
Stefan Wieczorek, M.D.
Ruhr University
Bochum, Germany
William R. Wilcox, M.D., Ph.D.
Cedars-Sinai Medical Center
Los Angeles, California
Andrew O. M. Wilkie, D.M.
University of Oxford
Oxford, United Kingdom
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
Juliane Winkelmann, M.D., Ph.D.
Stanford University School of Medicine
Stanford, California
Barry Wolf, M.D., Ph.D.
Henry Ford Hospital
Detroit, Michigan
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
Saskia B. Wortmann, M.D, Ph.D.
Radboud University Nijmegen Medical Centre
Nijmegen, The Netherlands
Zbigniew Wszolek, M.D.
Mayo Clinic
Jacksonville, Florida
Kazuhiro Yamakawa, Ph.D.
RIKEN Brain Science Institute
Saitama, Japan
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
Christina Zeitz, Ph.D.
Vision Institute
Paris, France
Maria Christina Zennaro, M.D., Ph.D.
National Institute of Health and Medical Research (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 & 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: December 16, 2014