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Contributors
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Noura S. Abul-Husn, MD, PhD

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Resident, Internal Medicine-Medical Genetics

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Departments of Medicine and Genetics and Genomic Medicine

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Mount Sinai School of Medicine

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New York, NY

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++

Tariq Ahmad, MD

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Cardiology Fellow

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Department of Medicine

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Duke University School of Medicine

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Durham, NC

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Haya Al-Saud, MSc

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Department of Genomics of Common Diseases

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School Of Public Health, Imperial College London

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London, UK

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++

Fowzan S. Alkuraya, MD

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Professor of Human Genetics

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Department of Genetics

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King Faisal Specialist Hospital and Research Center

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Riyadh, Saudi Arabia

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++

Abdulrahman Alsultan, MD, FAAP

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Assistant Professor

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Department of Pediatrics, King Khalid University Hospital and College of Medicine

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King Saud University

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Riyadh, Saudi Arabia

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++

Raymond M. Anchan, MD, PhD

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Assistant Professor

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Dept of Obstetrics, Gynecology and Reproductive Biology

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Brigham and Women's Hospital and Harvard Medical School

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Boston, MA

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++

Justin P. Annes, MD, PhD

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Assistant Professor

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Division of Endocrinology

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Stanford University Medical Center

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Stanford, CA

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++

Mohammed T. Ansari, MBBS, MMedSc, MPhil.

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Associate Investigator

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Clinical Epidemiology Program,

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Ottawa Hospital Research Institute

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Ottawa, Canada

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++

Ines Armando, PhD

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Associate Professor

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Division of Nephrology, Department of Medicine

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University of Maryland School of Medicine

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Baltimore, MD

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++

Matthew J. Armstrong, MBChB, BSc, MRCP

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Wellcome Trust Clinical Research Fellow, Honorary SpR in Hepatology

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Centre of Liver Research

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University of Birmingham

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Birmingham, UK

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++

Mark W. Babyatsky, MD

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Adjunct Professor

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Department of Medicine

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Columbia University Medical Center

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New York, NY

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++

Alice Bailey, BA

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Clinic Coordinator

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The “22q and You” Center

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The Children's Hospital of Philadelphia

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Philadelphia, PA

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++

Ravikumar Balasubramanian, MD, PhD, MRCP

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Instructor in Medicine

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Harvard Reproductive Endocrine Sciences Center

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Massachusetts General Hospital and Harvard Medical School

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Boston, MA

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++

Manisha Balwani, MD, MS

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Assistant Professor

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Genetics and Genomic Medicine

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Mount Sinai School of Medicine

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New York, NY

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++

Adi Bar-Lev, MD

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Fellow

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Department of Medicine

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Brigham and Women's Hospital

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Boston, MA

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Carl Barnes, MD

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Associate Professor

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Department of Medicine

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Veterans Hospital

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Denver, CO

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++

Merrill D. Benson, MD

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Professor Pathology and Laboratory Medicine, Medicine and Medical and Molecular Genetics

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Department of Pathology & Laboratory Medicine

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Indiana University School of Medicine

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Indianapolis, IN

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++

Mitchel S. Berger, MD, FACS, FAANS

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Kathleen M. Plant Distinguished Professor, Chairman, Department of Neurological Surgery, Director, Brain Tumor Surgery Program and Director, Neurosurgical Research Centers, Brain Tumor Research Center

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Department of Neurological Surgery

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University of California San Francisco

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San Francisco, CA

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++

Kailash P. Bhatia, MD, DM, FRCP

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Professor

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Institute of Neurology

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University College London

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London, UK

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++

Frederick R. Bieber, MD

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Associate Professor

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Department of Pathology

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Brigham and Women's Hospital

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Boston, MA

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++

Joann Bodurtha, MD, MPH

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Professor of Pediatrics and Oncology

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McKusick-Nathans Institute of Genetic Medicine

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Johns Hopkins University

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Baltimore, MD

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++

Carolyn Bondy, MD

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Scientist Emeritus

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Program in Developmental Endocrinology and Genetics

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NICHD, NIH

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Clinical Center,

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Bethesda, MD

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++

Philip M. Boone, PhD

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MD/PhD Student

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Department of Molecular and Human Genetics

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Baylor College of Medicine

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Houston, TX

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++

Ronald A. Booth, PhD

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Assistant Professor

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Department of Pathology and Laboratory Medicine

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The Ottawa Hospital

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Ottawa, Canada

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++

Erwin Bottinger, MD

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Professor

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Department of Medicine

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Mount Sinai School of Medicine

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New York, NY

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++

Riley Bove, MD

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Instructor in Neurology

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Department of Neurology

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Brigham and Women's Hospital

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Boston, MA

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++

Esteban Braggio, PhD

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Assistant Professor

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Department of Medicine

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Mayo Clinic Scottsdale

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Scottsdale, AZ

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++

Rebecca Breslow, MD

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Instructor

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Division of Rheumatology, Immunology and Allergy, Department of Medicine

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Brigham and Women's Hospital and Harvard Medical School

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Boston, MA

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++

Scott E. Brodie, MD, PhD

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Professor

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Department of Ophthalmology

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Mount Sinai School of Medicine

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New York, NY

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++

Lawrence C. Brody, PhD

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Senior Investigator and Chief, Genome Technology Branch

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National Human Genome Research Institute

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National Institutes of Health

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Bethesda, MD

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++

David G. Brooks, MD, PhD

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Medical Head

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Translational Development

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Tesaro, Inc.

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Waltham, MA

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++

Matthew Brown, MBBS, MD, FRACP, FAA

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Director, University of Queensland Diamantina Institute

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Human Genetics Group

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University of Queensland

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Brisbane, Queensland, Australia

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Sara J. Brown, MRCP

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Wellcome Trust Intermediate Clinical Fellow,

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Clinical Senior Lecturer & Hon Consultant Dermatologist, Division of Molecular Medicine

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University of Dundee

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Dundee, UK

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Ramon Brugada, MD, PhD, FACC, FESC

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Director Cardiovascular Genetics Center, Dean School Of Medicine

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Cardiovascular Genetics Center, Department Of Medicine

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School Of Medicine, University Of Girona-Idibgi

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Girona, Spain

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Merlin G. Butler, MD, PhD

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Director, Division of Research

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Professor of Psychiatry, Behavioral Sciences and Pediatrics, Department of Psychiatry & Behavioral Sciences and Pediatrics

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Kansas University Medical Center

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Kansas City, KS

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Rodrigo Calado, MD, PhD

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Assistant Professor

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Department of Medicine

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Center for Cell-Based Therapy

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Sao Paulo, Brazil

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Susanna Campion, PhD

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Senior Research Scientist

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Malaria Programme

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Welcome Trust Sanger Institute (WTSI)

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Hinxton, Cambridge, United Kingdom

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Oscar Campuzano Larrea, BSc, PhD

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Post-Doc Investigator

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Cardiovascular Genetics Center, Department Of Medicine

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School Of Medicine, University Of Girona-Idibgi

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Girona, Spain

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Antonio Cao, MD

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Professor

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Institute of Neurogenetics and Neuropharmacology

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Consiglio Nazionale delle Ricerche

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Cagliari, Italy

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++

Juan C. Cardet, MD

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Clinical Research Fellow in Medicine

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Division of Rheumatology, Immunology and Allergy,

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Department of Medicine

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Brigham and Women's Hospital

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Boston, MA

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++

David J. Carey, PhD

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Associate Chief Research Officer

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The Sigfried and Janet Weis Center for Research

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Geisinger Health System

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Danville, PA

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++

Varun Chawla, MD, MPH

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Nephrologist

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Chabot Nephrology Medical Group

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Fremont, CA

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++

Sruti Chandrasekaran, MBBS

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Fellow

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Department of Medicine

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University of Maryland School of Medicine

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Baltimore, MD

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++

Charissa Y. Chang, MD

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Assistant Professor

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Department of Medicine

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Mount Sinai School of Medicine

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New York, NY

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++

Benjamin K. Chen, MD, PhD

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Associate Professor

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Department of Medicine

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Mount Sinai School of Medicine

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New York, NY

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++

Daniel C. Chung, MD

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Clinical Chief, Gastrointestinal Unit

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Director, GI Cancer Genetics Program

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Department of Medicine

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Massachusetts General Hospital

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Boston, MA

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Janice Y. Chyou, MD

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Cardiology Fellow

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Department of Medicine

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New York University Langone Medical Center

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New York, NY

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++

Lee C. Claridge, BM, BS (Hons), MRCP (UK)

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Consultant Hepatologist

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Liver Unit

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St James's University Hospital

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Leeds, UK

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++

Deirdre Cocks Eschler, MD

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Fellow

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Department of Medicine

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Mount Sinai School of Medicine

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New York, NY

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++

Elizabeth A. Comen, MD

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Attending Physician

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Department of Medicine

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Memorial Sloan-Kettering Cancer Center

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New York, NY

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Christopher D. T. Corbett, MBBS, MRCP

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Hepatology Registrar

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Liver Unit

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Queen Elizabeth Hospital

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Birmingham, UK

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++

Ingrid Cristian, MD

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Assistant Professor of Pediatrics

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Department of Pediatrics

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Nemours Children's Hospital

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Orlando, FL

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++

Carlo M. Croce, MD

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Professor and Chair

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Department of Molecular Virology, Immunology, and Medical Genetics

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Ohio State University

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Columbus, OH

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++

William F. Crowley, Jr., MD

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Daniel K. Podolsky Professor of Translational Medicine, Director, Harvard Reproductive Endocrine Sciences Center

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Department of Medicine

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Massachusetts General Hospital

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Boston, MA

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++

Benjamin S. Daniel, MBBS

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Associate Faculty

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Department of Dermatology

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St George Hospital, University of New South Wales

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Sydney, Australia

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++

Philip L. De Jager, MD, PhD

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Associate Professor of Neurology

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Department of Neurology

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Brigham and Women's Hospital

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Boston, MA

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++

Yun Deng, MD

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Postdoctoral Research Fellow

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Department of Medicine

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David Geffen School of Medicine, University of California,

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Los Angeles

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Los Angeles, CA

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++

Joshua C. Denny, MD, MS

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Associate Professor

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Departments of Biomedical Informatics and Medicine

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Vanderbilt University

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Nashville, TN

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++

Robert J. Desnick, MD

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Dean and Chairman Emeritus

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Genetics and Genomic Sciences

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Mount Sinai School of Medicine

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New York, NY

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++

Kristine Dickinson

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Genetics Assistant The “22q and You” Center

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The Children's Hospital of Philadelphia

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Philadelphia, PA

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++

Harold C. Dietz, MD

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Victor A. McKusick Professor of Genetics and Medicine

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McKusick-Nathans Institute of Genetic Medicine

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Johns Hopkins University

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Baltimore, MD

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++

Jill S. Dolinsky, RN, MS, CGC

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Genetic Counselor

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Clinical Genetics

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Ambry Genetics

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Aliso Viejo, CA

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++

Fatima Donia Mili, MD, PhD

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Senior Service Fellow

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Division of Blood Disorders

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The Centers for Disease Control and Prevention

++

Atlanta, GA

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++

Rajkumar Dorajoo, PhD

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Department of Genomics of Common Diseases

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School Of Public Health, Imperial College London

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London, UK

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++

Henry L. Dorkin, MD

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Associate Professor

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Department of Pediatrics

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Boston Children's Hospital

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Boston, MA

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++

Stephanie Dukhovny, MD

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Clinical Fellow

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Department of Obstetrics, Gynecology, and Reproductive

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Biology

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Brigham and Women's Hospital

++

Boston, MA

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++

Lisa Edelmann, PhD

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Associate Professor

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Genetics and Genomic Medicine

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Mount Sinai School of Medicine

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New York, NY

++
++

Stacey Eggert, PhD

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Genetics Fellow

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Departments of Obstetrics, Gynecology and Reproductive Biology and Pathology

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Brigham and Women's Hospital

++

Boston, MA

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++

Francesca M. Elli

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Endocrinology Unit, Department of Medical Sciences

++

Università degli Studi di Milano

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Milan, Italy

++
++

Charis Eng, MD, PhD, FACP

++

Hardis/ACS Professor and Chair

++

Genomic Medicine Institute

++

Cleveland Clinic

++

Cleveland, OH

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++

W. Andrew Faucett, MS, CGC

++

Director of Policy and Education

++

Office of the Chief Scientific Officer

++

Geisinger Health System

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Danville, PA

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++

Faisal Fecto, MD, PhD

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Postdoctoral Fellow

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Department of Neurology and Clinical Neurosciences

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Northwestern University Feinberg School of Medicine

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Chicago, IL

++
++

W. Gregory Feero, MD, PhD

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Faculty

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Maine-Dartmouth Family Medicine Residency

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Augusta, ME

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++

James M. Fernandez, MD, PhD

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Staff Physician

++

Department of Allergy & Immunology

++

Cleveland Clinic Foundation

++

Cleveland, OH USA

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++

John K. Fink, MD

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Professor

++

Department of Neurology

++

University of Michigan; and Geriatric Research, Education, and Clinical Center, Ann Arbor Veterans Affairs Medical Center

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Ann Arbor, MI, USA

++
++

Edward A. Fisher, MD, PhD, MPH

++

Leon H. Charney Professor of Cardiovascular Medicine

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Departments of Medicine, Pediatrics and Cell Biology

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New York University Langone Medical Center

++

New York, NY

++
++

Rebecca C. Fitzgerald, PhD

++

Professor and MRC Programme Leader

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MRC Cancer Cell Unit

++

Hutchinson/MRC Research Centre

++

University of Cambridge

++

Cambridge, United Kingdom

++
++

Rafael Fonseca, MD

++

Co-director, Hematologic Malignancies Program, Deputy Director, Mayo Clinic Cancer Center

++

Department of Medicine

++

Mayo Clinic Scottsdale

++

Scottsdale, AZ

++
++

David N. Franz, MD

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Director, Tuberous Sclerosis Clinic

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Department of Pediatrics

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Cincinnati Children's Hospital Medical Center

++

Cincinnati, OH

++
++

Scott Friedman, MD

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Professor

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Department of Medicine

++

Mount Sinai School of Medicine

++

New York, NY

++
++

Christopher A. Friedrich, MD, PhD

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Associate Professor

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Division of Medical Genetics

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University of Mississippi Medical Center

++

Jackson, MS

++
++

Charlotte Frise, MA, MRCP

++

Specialist Registrar

++

Obstetric & General Medicine

++

Oxford University Hospitals NHS Trust

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Oxford, UK

++
++

Phillippe Froguel, MD, PhD

++

Professor of Genomic Medicine, Head of the Department of Genomics of Common Diseases

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Department of Genomics of Common Diseases

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School Of Public Health, Imperial College

++

London, UK

++
++

Terry Fry, MD

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Head, Blood and Marrow Transplant Section

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Pediatric Oncology Branch

++

National Cancer Institute

++

Bethesda, MD

++
++

Michele Gabree, MS, CGC

++

Genetic Counselor

++

Center for Cancer Risk Assessment

++

Massachusetts General Hospital

++

Boston, MA

++
++

Manish Gala, MD

++

Clinical and Research Fellow in Gastroenterology

++

Department of Medicine

++

Massachusetts General Hospital

++

Boston, MA

++
++

Renzo Galanello, MD

++

Professor

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Department of Public Health and Clinical and Molecular Medicine

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University of Cagliari

++

Cagliari, Italy

++
++

Judy E. Garber, MD, MPH

++

Professor of Medicine

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Center for Cancer Genetics and Prevention

++

Dana Farber Cancer Institute

++

Boston, MA

++
++

Bruce D. Gelb, MD

++

Professor

++

Pediatrics, and Genetics and Genomic Sciences

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Mount Sinai School of Medicine

++

New York, NY

++
++

Behzad Gerami-Naini, PhD

++

Assistant Professor

++

Department of Oral and Maxillofacial Pathology, Oral Medicine and Craniofacial Pain

++

Tufts University, School of Dental Medicine

++

Boston, MA

++
++

Neera Ghaziuddin, MD, MRCP

++

Associate Professor of Psychiatry

++

Department of Psychiatry

++

University of Michigan

++

Ann Arbor, MI

++
++

Monica A. Giovanni, MS, CGC

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Director of Clinical Genomic Strategy

++

Genomic Medicine Institute

++

Geisinger Health System

++

Danville, PA

++
++

Mark Goodarzi, MD, PhD

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Associate Professor of Medicine

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Division Director, Division of Endocrinology, Diabetes and Metabolism

++

Cedars-Sinai Medical Center

++

Los Angeles, CA

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++

Omri Gottesman, MD

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Assistant Professor

++

Department of Medicine

++

Mount Sinai School of Medicine

++

New York, NY

++
++

Evgenia Gourgari, MD

++

Pediatric Endocrinology Fellow

++

Section on Endocrinology and Genetics, Program on Developmental Endocrinology & Genetics (PDEGEN)

++

National Institutes of Health

++

Bethesda, MD

++
++

Sylvie Grandemange, PhD

++

Engineer

++

Laboratoire de génétique des maladies rares et auto-inflammatoires

++

Montpellier, France

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++

Robert C. Green, MD, MPH

++

Associate Professor of Medicine

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Division of Genetics, Department of Medicine

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Brigham and Women's Hospital and Harvard Medical School

++

Boston, MA

++
++

Mark H. Greene, MD

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Chief, Clinical Genetics Branch

++

Division of Cancer Epidemiology and Genetics

++

National Cancer Institute

++

Rockville, MD

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++

Elizabeth G. Grubbs, MD

++

Assistant Professor

++

Department of Surgical Oncology

++

University of Texas M.D. Anderson Cancer Center

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Houston, TX

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++

Dong-Chuan Guo, PhD

++

Assistant Professor

++

Department of Internal Medicine

++

The University of Texas Medical School at Houston

++

Houston, TX

++
++

Richard J. H. Smith, MD

++

Professor

++

Department of Otolaryngology-Head and Neck Surgery

++

University of Iowa

++

Iowa City, IA

++
++

Karen Hanson, MS, MBA

++

Medical Science Liaison

++

Sequenom, Inc.

++

San Diego, CA

++
++

John Hardy, PhD

++

Professor

++

Reta Lila Weston Institute

++

University College London

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London, United Kingdom

++
++

Chellamani Harini, MD

++

Instructor in Neurology

++

Division of Epilepsy and Clinical Neurophysiology

++

Boston Children's Hospital

++

Boston, MA

++
++

Heather L. Harrell, MD, JD

++

Research Associate

++

Institute for Bioethics, Health Policy, and Law

++

University of Louisville School of Medicine

++

Louisville, KY

++
++

David J. Harris, MD

++

Lecturer on Pediatrics

++

Division of Genetics and Metabolism

++

Boston Children's Hospital

++

Boston, MA

++
++

Vijay Hegde, MD

++

Postdoctoral Fellow

++

Department of Pathology

++

Brigham and Women's Hospital

++

Boston, MA

++
++

Robert A. Hegele, MD

++

Distinguished University Professor

++

Department of Medicine and Robarts Research Institute

++

University of Western Ontario

++

London, ON, Canada

++
++

Rebecca S. Heist, MD, MPH

++

Assistant Professor

++

MGH Cancer Center

++

Massachusetts General Hospital, Harvard Medical School

++

Boston, MA

++
++

J. Fielding Hejtmancik, MD, PhD

++

Senior Investigator

++

Ophthalmic Genetic and Visual Function Branch, National Eye Institute

++

National Institutes of Health

++

Bethesda, MD

++
++

Amy L. Hernandez, MS, CGC

++

Director of Genetic Counseling

++

Laboratory for Molecular Medicine

++

Partners Center for Personalized Genetic Medicine

++

Boston, MA

++
++

Ray E. Hershberger, MD

++

Professor of Medicine and Director, Division of Human Genetics

++

Department of Internal Medicine

++

Wexner Medical Center at The Ohio State University

++

Columbus, OH

++
++

Michael Heuser, MD

++

Attending Physician

++

Department of Hematology, Hemostasis, Oncology, and Stem Cell Transplantation

++

Hannover Medical School

++

Hannover, Germany

++
++

Michael S. Hildebrand, PhD

++

Fellow

++

Department of Otolaryngology-Head and Neck Surgery

++

University of Iowa

++

Iowa City, IA

++
++

Grant Hill-Cawthorne, MA, MB, Bchir, MRCP

++

PhD Student

++

Pathogen Genomics Laboratory, Biological and Environmental Sciences and Engineering

++

King Abdullah University of Science and Technology

++

Thuwal, Mekkah, Kingdom of Saudi Arabia

++
++

Irene Hinterseher, MD, PhD

++

Senior Physician

++

Fachärztin für Chirurgie und Gefäβchirurgie

++

Charité Universitätsmedizin Berlin

++

Berlin, Germany

++
++

Kurt Hirschhorn, MD, PhD

++

Medicine Chairman of Pediatrics Emeritus; Professor

++

Pediatrics and Genetics and Genomic Sciences

++

Mount Sinai School of Medicine

++

New York, NY

++
++

Carolyn Y. Ho, MD

++

Medical Director, Cardiovascular Genetics Center

++

Department of Medicine

++

Brigham and Women's Hospital

++

Boston, MA

++
++

Erin P. Hoffman, MS, CGC

++

Genetic Counselor

++

Department of Medicine

++

Brigham and Women's Hospital

++

Boston, MA

++
++

Mark Hoffman, PhD

++

Associate Professor of Pediatrics and Biomedical and Health Informatics

++

School of Computing and Engineering

++

University of Missouri-Kansas City

++

Kansas City, MO

++
++

Ronald Hoffman, MD

++

Professor

++

Department of Medicine

++

Mount Sinai School of Medicine

++

New York, NY

++
++

W. Craig Hooper, PhD

++

Division of Blood Disorders

++

The Centers for Disease Control and Prevention

++

Atlanta, GA

++
++

Julie E. Hoover-Fong, MD, PhD

++

Assistant Professor

++

Department of Pediatrics

++

Mount Sinai School of Medicine

++

New York, NY

++
++

Mimi I. Hu, MD

++

Assistant Professor

++

Dept. of Endocrine Neoplasia & Hormonal Disorders

++

University of Texas M.D. Anderson Cancer Center

++

Houston, TX

++
++

Jennifer Huang, MD

++

Instructor

++

Dermatology Program

++

Boston Children's Hospital

++

Boston, MA

++
++

Peter Hulick, MD, MMSc

++

Head, Division of Medical Genetics

++

Department of Medicine

++

NorthShore University HealthSystem

++

Evanston, IL

++
++

Rachel J. Hundley, PhD

++

Assistant Professor of Pediatrics

++

Developmental Medicine

++

Monroe Carell Jr. Children's Hospital at Vanderbilt

++

Nashville, TN

++
++

Shirish Huprikar, MD

++

Professor

++

Department of Medicine

++

Mount Sinai School of Medicine

++

New York, NY

++
++

Michael Iannuzzi, MD, MBA

++

Edward C. Reifenstein Professor and Chair

++

Department of Medicine

++

SUNY Upstate Medical University

++

Syracuse, NY

++
++

Maria V. Irazabal, MD

++

Research Fellow

++

Translational Polycystic Kidney Disease Center

++

Mayo Clinic

++

Rochester, MN

++
++

David J. Irwin, MD

++

Fellow

++

Departments of Neurology, Pathology, and Laboratory Medicine

++

Perelman School of Medicine at the University of Pennsylvania

++

Philadelphia, PA

++
++

Seema Jamal, MS, CGC

++

Genetic Counselor

++

Department of Pediatrics, Division of Genetic Medicine

++

University of Washington

++

Seattle, WA, USA

++
++

Saumya S. Jamuar, MBBS, MRCPCH

++

Fellow

++

Division of Genetics and Metabolism

++

Boston Children's Hospital

++

Boston, MA

++
++

Nicholas E. Johnson, MD

++

Experimental Therapeutics Fellow

++

Department of Neurology

++

The University of Rochester

++

Rochester, NY

++
++

Lynn B. Jorde, PhD

++

H.A. and Edna Benning Presidential Professor and Chair

++

Department of Human Genetics

++

University of Utah School of Medicine

++

Salt Lake City, UT

++
++

Pedro A. Jose, MD, PhD

++

Professor

++

Department of Medicine

++

University of Maryland School of Medicine

++

Baltimore, MD

++
++

Tisha R. Joy, MD

++

Assistant Professor

++

Department of Medicine

++

University of Western Ontario

++

London, ON, Canada

++
++

Joseph Kannry, MD

++

Associate Professor Director, EMR Clinical Transformation Group

++

Department of Medicine

++

Icahn School of Medicine at Mount Sinai

++

New York, NY

++
++

Sunil Kapur, MD

++

Cardiology Fellow

++

Department of Medicine

++

Brigham and Women's Hospital

++

Boston, MA

++
++

Amel Karaa, MD

++

Instructor

++

Departments of Genetics and Neurology

++

Massachusetts General Hospital

++

Boston, MA

++
++

Brian D. Kent, MB

++

Respiratory and Sleep Physician

++

Department of Respiratory Medicine

++

Guy's and St. Thomas' Hospitals

++

London, United Kingdom

++
++

Aline Ketefian, MD

++

Fellow

++

Division of Reproductive Endocrinology and Infertility

++

Cedars-Sinai Medical Center

++

Los Angeles, CA

++
++

Ahmed Khattab, MD

++

Fellow

++

Department of Pediatrics

++

Mount Sinai School of Medicine

++

New York, NY

++
++

Brian Kirmse, MD

++

Assistant Professor

++

Department of Genetics and Metabolism

++

Children's National Medical Center

++

Washington, DC

++
++

Daniel Kiss, MD

++

Medical Resident

++

Department of Internal Medicine

++

Hospital of the University of Pennsylvania

++

Philadelphia, PA

++
++

Christian A. Koch, MD, PhD

++

Professor of Medicine

++

Department of Medicine/Endocrinology

++

University of Mississippi Medical Center

++

Jackson, MS

++
++

Isabella Kone-Paut, MD

++

Professor of Pediatrics

++

Service de pédiatrie générale et rhumatologie pédiatrique

++

APHP, CHU de Bicêtre, Université de Paris Sud

++

Le Kremlin-Bicêtre, France

++
++

Christian Kratz, MD

++

Professor and Department Head

++

Pediatric Hematology and Oncology

++

Hannover Medical School

++

Hannover, Germany

++
++

Marcin Krawczyk, Dr. med.

++

Department of Internal Medicine II

++

Saarland University Medical Center

++

Homburg, Germany

++
++

Darcy A. Krueger, MD, PhD

++

Assistant Professor

++

Department of Pediatrics

++

Cincinnati Children's Hospital Medical Center

++

Cincinnati, OH

++
++

S. Helena Kuivaniemi, MD, PhD

++

Staff Scientist

++

The Sigfried and Janet Weis Center for Research

++

Geisinger Health System

++

Danville, PA

++
++

Jody L. Kujovich, MD

++

Assistant Professor of Pediatrics and Medicine, Director, Women's Hemostasis and Thrombosis Clinic

++

The Hemophilia Center

++

Oregon Health and Science University

++

Portland, OR

++
++

Hiroki Kurahashi, MD, PhD

++

Professor

++

Division of Molecular Genetics

++

ICMS, Fujita Health University

++

Toyoake, Aichi, Japan

++
++

Fuat Kurbanov, PhD

++

Post-Doctoral Fellow

++

Department of Medicine, Infectious Diseases

++

Johns Hopkins University

++

Baltimore, MD

++
++

Andre Kushniruk, PhD

++

Professor

++

School of Health Information Science

++

University of Victoria

++

Victoria, BC

++
++

Neal K. Lakdawala, MD

++

Instructor

++

Department of Medicine

++

Harvard Medical School and Brigham and Women's Hospital

++

Boston, MA

++
++

Frank Lammert, Dr. med.

++

Professor

++

Department of Internal Medicine II

++

Saarland University Medical Center

++

Homburg, Germany

++
++

Blair R. Leavitt, MDCM, FRCPC

++

Professor

++

The Centre for Molecular Medicine and Therapeutics Child and Family Research Institute

++

Child and Family Research Institute, BC Children's Hospital, University of British Columbia

++

Vancouver, BC

++
++

Charles Lee, PhD

++

Director

++

Institute for Genomic Medicine

++

The Jackson Laboratory

++

Farmington, CT

++
++

Dru F. Leistritz, MS, CGC

++

Genetic Counselor

++

Department of Pathology

++

University of Washington

++

Seattle, WA

++
++

Oksana Lekarev, DO

++

Assistant Professor

++

Department of Pediatrics

++

Weill Cornell Medical College

++

New York, NY

++
++

Caryn Lerman, PhD

++

Professor of Psychology in Psychiatry

++

Department of Psychiatry

++

University of Pennsylvania

++

Philadelphia, PA

++
++

Harvey L. Levy, MD

++

Senior Physician in Medicine and Genetics

++

Division of Genetics and Metabolism

++

Boston Children's Hospital

++

Boston, MA

++
++

Howard Levy, MD, PhD

++

Assistant Professor

++

Division of General Internal Medicine & McKusick-Nathans Institute of Genetic Medicine

++

Johns Hopkins University

++

Baltimore, MD

++
++

Ming D. Li, PhD

++

Jean and Ronald Butcher Professor

++

Head, Section of Neurobiology

++

Vice Chair for Research, Department of Psychiatry and NB Sciences

++

University of Virginia

++

Charlottesville, VA

++
++

Noralane Lindor, MD

++

Professor

++

Medical Genetics

++

Mayo Clinic

++

Scottsdale, AZ

++
++

W. Marston Linehan, MD

++

Chief

++

Urologic Oncology Branch

++

National Cancer Institute

++

Bethesda, MD

++
++

Nicola Longo, MD, PhD

++

Professor and Chief

++

Medical Genetics/Pediatrics

++

University of Utah

++

Salt Lake City, UT

++
++

Helen C. Looker, MD

++

Clinical Senior Research Fellow

++

Division of Population Health Sciences

++

University of Dundee School of Medicine

++

Dundee, UK

++
++

James E. Loyd, MD

++

Professor of Medicine

++

Department of Medicine

++

Vanderbilt University Medical Center

++

Nashville, TN

++
++

James R. Lupski, MD, PhD, D.Sc. (Hons)

++

Cullen Professor and Vice Chairman Genetics

++

Department of Molecular and Human Genetics

++

Baylor College of Medicine

++

Houston, TX

++
++

Tom H. M. Ottenhoff, MD, PhD

++

Professor

++

Department of Infectious Diseases

++

Leiden University Medical Center

++

Leiden, Netherlands

++
++

Lucy MacKillop, MA, FRCP

++

Consultant Obstetric Physician

++

Maternal high-risk maternity service

++

Oxford University Hospitals NHS Trust

++

Oxford, UK

++
++

Kenneth D. Macneal, BS, MBA

++

University of Denver

++

Denver, CO

++
++

Calum A. Macrae, MD, PhD

++

Associate Professor

++

Department of Medicine

++

Brigham and Women's Hospital

++

Boston, MA

++
++

Simon Mallal, MBBS

++

Professor of Medicine

++

Center for Translational Immunology & Infectious Diseases Vanderbilt University, Nashville TN

++

Director, Institute for Immunology and Infectious Diseases, Murdoch University, Murdoch, Western Australia

++
++

Leslie Manace-Brenman, MD

++

Assistant Professor

++

Department of Medicine

++

University of California, San Francisco

++

San Francisco, CA

++
++

Giovanna Mantovani, MD, PhD

++

Endocrinology Unit, Department of Medical Sciences

++

Università degli Studi di Milano

++

Milan, Italy

++
++

Deborah Marsden, MBBS

++

Assistant Clinical Professor of Pediatrics

++

Division of Genetics and Metabolism

++

Boston Children's Hospital

++

Boston, MA

++
++

George M. Martin, MD

++

Professor

++

Department of Pathology

++

University of Washington

++

Seattle, WA

++
++

John O. Mascarenhas, MD

++

Assistant Professor

++

Department of Medicine

++

Mount Sinai School of Medicine

++

New York, NY

++
++

James Mastrianni, MD, PhD

++

Director, Center for Comprehensive Care and Research on Memory Disorders

++

Department of Neurology

++

University of Chicago

++

Chicago, IL

++
++

Donna M. McDonald-McGinn, MS, CGC

++

Associate Director, Clinical Genetics

++

Program Director, The “22q and You” Center

++

The Children's Hospital of Philadelphia

++

Philadelphia, PA

++
++

Kimberly R. McDonald, MD

++

House Officer

++

Department of Pediatrics

++

University of Mississippi Medical Center

++

Jackson, MS

++
++

Peter J. McGuire, MS, MD

++

Genetic Disease Research Branch

++

National Human Genome Research Institute

++

National Institutes of Health

++

Bethesda, MD

++
++

Melvin McInnis, MD, FRCP

++

Professor of Psychiatry

++

Department of Psychiatry

++

University of Michigan

++

Ann Arbor, MI

++
++

W. H. Irwin McLean, FRSE FMedSci

++

Professor of Human Genetics

++

Dermatology and Genetic Medicine, Division of Molecular Medicine

++

University of Dundee

++

Dundee, UK

++
++

Walter T. McNicholas, MB BCh BAO, MD, FRCPC, MRCPI, FRCPC

++

Director, Pulmonary and Sleep Disorders Unit,

++

Newman Professor

++

Pulmonary and Sleep Disorders Unit

++

St. Vincent's University Hospital

++

Dublin, Ireland

++
++

Robert R. McWilliams, MD

++

Associate Professor of Oncology

++

Division of Medical Oncology

++

Mayo Clinic

++

Rochester, MN

++
++

Lakshmi Mehta, MD

++

Associate Professor

++

Genetics and Genomic Medicine

++

Mount Sinai School of Medicine

++

New York, NY

++
++

Eugen Melcescu, MD

++

Post-Doctoral Fellow

++

Department of Medicine/Endocrinology

++

University of Mississippi Medical Center

++

Jackson, MS

++
++

Francesca Menconi

++

Department of Medicine

++

Mount Sinai School of Medicine

++

New York, NY

++
++

Federica Mescla, MD

++

Negri Bergamo Laboratories and the Daccò Centre

++

Mario Negri Institute for Pharmacological Research

++

Milan, IT

++
++

Dianna M. Milewicz, MD, PhD

++

President George H. W. Bush Chair of Cardiovascular Medicine, Director, Division of Medical Genetics

++

Director MD/PhD Program

++

Department of Internal Medicine

++

The University of Texas Health Science Center at Houston

++

Houston, TX

++
++

Jeffrey M. Milunsky, MD

++

Co-Director

++

Center for Human Genetics

++

Cambridge, MA

++
++

Beau Mitchell, MD

++

Clinical Assistant Professor

++

Department of Pediatrics

++

Weill Cornell Medical College

++

New York, NY

++
++

Braxton D. Mitchell, PhD

++

Professor

++

Department of Medicine

++

University of Maryland School of Medicine

++

Baltimore, MD

++
++

Matthew Morris, PhD

++

Assistant Professor

++

Department of Family and Community Medicine

++

Meharry Medical College

++

Nashville, TN

++
++

Cynthia Morton, PhD

++

William Lambert Richardson Professor of Obstetrics, Gynecology and Reproductive Biology and Professor of Pathology, Harvard Medical School, and Director of Cytogenetics, Brigham and Women's Hospital

++

Departments of Obstetrics, Gynecology and Reproductive Biology and Pathology

++

Brigham and Women's Hospital and Harvard Medical School

++

Boston, MA

++
++

Richard T. Moxley III, MD

++

Director, Neuromuscular Disease Center

++

Helen Aresty Fine & Irving Fine Professor of Neurology

++

Director, Neuromuscular Disease Center

++

Department of Neurology, The University of Rochester

++

Rochester, NY

++
++

Maureen Murphy-Ryan, MD

++

Psychiatry Fellow

++

Department of Psychiatry

++

Washington University School of Medicine

++

St. Louis, MO

++
++

Michael F. Murray, MD

++

Director of Clinical Genomics

++

Genomic Medicine Institute

++

Geisinger Health System

++

Danville, PA

++
++

Dedee F. Murrell, MA, BMBCh, FAAD, MD, FACD

++

Professor and Head of Dermatology

++

Department of Medicine

++

St George Hospital, University of New South Wales

++

Sydney, Australia

++
++

Yusuke Nakamura, MD, PhD

++

Professor

++

Knapp Center for Biomedical Discovery

++

The University of Chicago

++

Chicago, IL

++
++

Serge P. Nana-Sinkam, MD

++

Associate Professor

++

Department of Medicine

++

Ohio State University

++

Columbus, OH

++
++

Goutham Narla, MD, PhD

++

Assistant Professor

++

Department of Medicine

++

Case Western Reserve University

++

Cleveland, OH

++
++

Ramzi H. Nasir, MD, MPH

++

Attending Physician in Developmental Behavioral Pediatrics

++

Division of Developmental Medicine

++

Boston Children's Hospital

++

Boston, MA

++
++

Shyamala C. Navada, MD

++

Assistant Professor

++

Department of Medicine

++

Mount Sinai School of Medicine

++

New York, NY

++
++

Eric J. Nestler, MD, PhD

++

Professor and Chair

++

Department of Neurosciences

++

Mount Sinai School of Medicine

++

New York, NY

++
++

Maria I. New, MD

++

Professor

++

Departments of Pediatrics and Genetics and Genomic Medicine

++

Mount Sinai School of Medicine

++

New York, NY

++
++

Anna Newlin, MS, CGC

++

Genetic Counselor

++

Center for Medical Genetics

++

NorthShore University HealthSystem

++

Evanston, IL

++
++

Vipan Nikore, MD

++

Staff Physician

++

Medicine Institute

++

Cleveland Clinic

++

Cleveland, OH

++
++

Haruki Nishizawa, MD, PhD

++

Associate professor

++

Department of Obstetrics and Gynecology

++

Fujita Health University School of Medicine

++

Toyoake, Aichi, Japan

++
++

Maina Noris, MD

++

Laboratory Chief

++

Immunology and Genetic of Rare Diseases and Organ Transplantation

++

Mario Negri Institute for Pharmacological Research

++

Milan, IT

++
++

Fabio P. Nunes, MD

++

Associate Medical Advisor

++

Eli Lilly and Company

++

Indianapolis, Indiana

++
++

Darren D. O'Rielly, PhD

++

Senior Clinical Scientist

++

Faculty of Medicine

++

Memorial University of Newfoundland

++

St. John's, Newfoundland, Canada

++
++

Kenneth Offit, MD, MPH

++

Chief, Clinical Genetics Service

++

Department of Medicine

++

Memorial Sloan-Kettering Cancer Center

++

New York, NY

++
++

Alexander R. Opotowsky, MD, MPH

++

Assistant Professor

++

Department of Pediatrics

++

Boston Children's Hospital and Brigham and Women's Hospital

++

Boston, MA

++
++

Raffaella Origa, MD

++

Researcher

++

Department of Public Health and Clinical and Molecular Medicine

++

University of Cagliari

++

Cagliari, Italy

++
++

Junko Oshima, MD, PhD

++

Research Professor

++

Department of Pathology

++

University of Washington

++

Seattle, WA

++
++

Gretchen Oswald, MS, CGC

++

Genetic Counselor

++

McKusick-Nathans Institute of Genetic Medicine

++

Johns Hopkins University

++

Baltimore, MD

++
++

Michael Paconowski, PharmD, MPH

++

Associate Director for Genomics and Targeted Therapy

++

Office of Clinical Pharmacology

++

U.S. Food and Drug Administration

++

Silver Spring, MD

++
++

Arnab Pain, PhD

++

Associate Professor, Pathogen Genomics

++

Computational Bioscience Research Center, Chemical Life Sciences and Engineering Division

++

King Abdullah University of Science and Technology

++

Thuwal, Mekkah, Kingdom of Saudi Arabia

++
++

Faith J. Pangilinan, PhD

++

Staff Scientist

++

National Human Genome Research Institute

++

National Institutes of Health

++

Bethesda, MD

++
++

Melissa A. Parisi, MD

++

Chief, Intellectual and Disabilities Branch

++

Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)

++

National Institutes of Health

++

Bethesda, MD

++
++

Alan A. Parsa, MD

++

Fellow

++

Department of Medicine

++

Cedars-Sinai Medical Center

++

Los Angeles, CA

++
++

Marzia Pasquali, PhD

++

Professor

++

Pathology Department

++

University of Utah

++

Salt Lake City, UT

++
++

Thomas J. Payne, PhD

++

Professor

++

Department of Otolaryngology and Communicative Sciences

++

University of Mississippi Medical Center

++

Jackson, MS

++
++

Anthony A. Philippakis, MD, PhD

++

Fellow

++

Department of Medicine

++

Brigham and Women's Hospital

++

Boston, MA

++
++

Elizabeth J. Phillips, MD

++

Professor of Medicine

++

Director of Personalized Immunology, Vanderbilt University, Nashville TN

++

Institute of Immunology & Infectious Diseases, Murdoch University

++

Murdoch, Australia

++
++

Scott R. Plotkin, MD

++

Associate Professor

++

Pappas Center for Neuro-Oncology

++

Massachusetts General Hospital

++

Boston, MA

++
++

Annapurna Poduri, MD, MPH

++

Assistant Professor of Neurology

++

Division of Epilepsy and Clinical Neurophysiology

++

Boston Children's Hospital

++

Boston, MA

++
++

Martin Pollak, MD

++

Professor of Medicine

++

Division of Nephrology, Department of Medicine

++

Beth Israel Deaconess Medical Center

++

Boston, MA

++
++

Reed E. Pyeritz, MD, PhD

++

Vice Chair for Academic Affairs; Director, Center for the Integration of Genetic Healthcare Technologies; Professor of Medicine, Senior Fellow, Center for Bioethics; Senior Fellow, Leonard Davis Institute of Health Economics

++

Department of Medicine

++

Perelman School of Medicine at the University of Pennsylvania

++

Philadelphia, PA

++
++

John M. Quillin, PhD, MPH, MS, CGC

++

Assistant Professor

++

Department of Human and Molecular Genetics

++

Virginia Commonwealth University

++

Richmond, VA

++
++

Daniel J. Rader, MD

++

Cooper-McLure Professor of Medicine and Pharmacology

++

Chief, Division of Translational Medicine and Human Genetics Associate Director, Institute for Translational Medicine and Therapeutics

++

Perelman School of Medicine at the University of Pennsylvania

++

Philadelphia, PA

++
++

Proton Rahman, MD

++

Professor of Medicine

++

Faculty of Medicine

++

Memorial University of Newfoundland

++

St. John's, Newfoundland

++
++

Huma Q. Rana, MD

++

Instructor

++

Department of Medicine

++

Dana Farber Cancer Institute

++

Boston, MA

++
++

Uma Rao, MD

++

Professor of Psychiatry and Behavioral Sciences; Director, Center for Molecular and Behavioral Neuroscience; Endowed Chair in Brain and Behavior Research

++

Center for Molecular and Behavioral Neuroscience

++

Meharry Medical College

++

Nashville, TN

++
++

Ellen S. Regalado, MS, CGC

++

Genetic Counselor/Instructor

++

Department of Internal Medicine

++

The University of Texas Medical School at Houston

++

Houston, TX

++
++

Heidi Rehm, PhD

++

Assistant Professor of Pathology

++

Director, Laboratory for Molecular Medicine

++

Brigham and Women's Hospital and Harvard Medical School

++

Boston, MA

++
++

Giuseppe Remuzzi, MD

++

Professor

++

Negri Bergamo Laboratories and the Daccò Centre

++

Mario Negri Institute for Pharmacological Research

++

Milan, IT

++
++

Marcos I. Restrepo, MD, MSc, FCCP

++

Investigator, Assistant Professor

++

Department of Medicine

++

University of Texas Health Science Center at San Antonio

++

San Antonio, TX

++
++

Matthew RG Taylor, MD, PhD

++

Director, Adult Medical Genetics Program

++

Department of Medicine

++

University of Colorado Denver

++

Denver, CO

++
++

Paul M. Ridker, MD

++

Eugene Braunwald Professor of Medicine

++

Department of Medicine

++

Brigham and Women's Hospital

++

Boston, MA

++
++

Nahir Rivera, PharmD

++

Pharmacist

++

Department of Pharmacy Practice

++

University of Puerto Rico – Medical Sciences Campus

++

San Juan, Puerto Rico

++
++

Eve A. Roberts, MD, MA, FRCPC

++

Adjunct Professor of Paediatrics, Medicine and Pharmacology

++

University of Toronto

++

Toronto, ON

++
++

Philip Robinson, MB ChB, FRACP

++

Rheumatologist & PhD Student

++

Human Genetics Group

++

University of Queensland Diamantina Institute

++

Brisbane, Queensland, Australia

++
++

Hobart L. Rogers, PharmD, PhD

++

Lieutenant Commander, U.S. Public Health Service

++

Office of Clinical Pharmacology

++

U.S. Food and Drug Administration

++

Silver Spring, MD

++
++

Henry Rosenberg, MD

++

Director of Medical Education

++

Department of Medical Education and Clinical Research

++

Saint Barnabas Medical Center

++

Livingston, NJ

++
++

Mark A. Rothstein, JD

++

Herbert F. Boehl Chair of Law and Medicine

++

Director, Institute for Bioethics, Health Policy, and Law

++

University of Louisville School of Medicine

++

Louisville, KY

++
++

Gualberto Ruano, MD, PhD

++

Director

++

Genetic Research Center

++

Hartford Hospital

++

Hartford, CT

++
++

Henrik Rueffert, MD

++

Department of Anesthesiology and Intensive Care Medicine

++

HELIOS Kliniken

++

Borna, Germany

++
++

Ornella J. Rullo, MD

++

Clinical Instructor

++

Division of Pediatric Rheumatology

++

Mattel Children's Hospital, University of California, Los Angeles

++

Los Angeles, CA

++
++

Silke Ryan, MD, PhD

++

Consultant in Respiratory and Sleep Medicine

++

Pulmonary and Sleep Disorders Unit

++

St. Vincent's University Hospital and Conway Institute, University College Dublin

++

Dublin, Ireland

++
++

Arturo Saavedra, MD, PhD, MBA

++

Assistant Professor in Dermatology, Medicine and Dermatopathology

++

Department of Dermatology

++

Brigham and Women's Hospital and Harvard Medical School

++

Boston, MA

++
++

Marc S. Sabatine, MD

++

Chairman of TIMI Study Group

++

Department of Medicine

++

Brigham and Women's Hospital

++

Boston, MA

++
++

Sadia Saeed, MSc

++

Department of Genomics of Common Diseases

++

School Of Public Health, Imperial College London

++

London, UK

++
++

Solomon Sager, MD

++

Cardiology Fellow

++

Division of Cardiology

++

University of Miami Miller School of Medicine and Jackson Memorial Hospital

++

Miami, FL

++
++

Birendra P. Sah, MD

++

Assistant Professor

++

Department of Pulmonary/Critical Care

++

SUNY Upstate Medical University

++

Syracuse, NY

++
++

Melissa Savage, MS, CGC

++

Manager

++

Medical Education and Clinical Affairs

++

Natera

++

San Carlos, CA

++
++

John A. Sayer, MB ChB, PhD

++

Senior Clinical Lecturer in Nephrology

++

Institute of Genetic Medicine

++

Newcastle University

++

Newcastle upon Tyne, Tyne and Wear, United Kingdom

++
++

Gretchen Schneider, MS, CGC

++

Professor of the Practice

++

Genetic Counseling Program

++

Brandeis University

++

Waltham, MA

++
++

Susanne A. Schneider, MD, PhD

++

Consultant Neurologist

++

Department of Neurology

++

Christian Albrechts University of Kiel

++

Kiel, Germany

++
++

Elizabeth K. Schorry, MD

++

Associate Professor

++

Department of Pediatrics

++

Cincinnati Children's Hospital Medical Center

++

Cincinnati, OH

++
++

Matthew Schu, MS. Ed, MS

++

Division of Biomedical Genetics,

++

Department of Medicine

++

Boston University School of Medicine

++

Boston, MA

++
++

David A. Schwartz, MD

++

Professor and Chair

++

Department of Medicine

++

University of Colorado School of Medicine

++

Aurora, CO

++
++

Arthur Z. Schwartzbard, MD

++

Assistant Professor

++

Department of Medicine

++

New York University Langone Medical Center

++

New York, NY

++
++

Marvin I. Schwarz, MD

++

Professor of Medicine

++

Department of Medicine

++

University of Colorado School of Medicine

++

Denver, CO

++
++

Stuart A. Scott, PhD

++

Assistant Professor

++

Genetics and Genomic Sciences

++

Mount Sinai School of Medicine

++

New York, NY

++
++

Christine E. Seidman, MD

++

Thomas W. Smith Professor of Medicine, Director, Cardiovascular Genetics Center

++

Department of Medicine

++

Brigham and Women's Hospital

++

Boston, MA

++
++

Richard L. Seip, PhD

++

Senior Scientist

++

Department of Cardiology

++

Hartford Hospital

++

Hartford, CT

++
++

Lecia V. Sequist, MD, MPH

++

Associate Professor

++

MGH Cancer Center

++

Massachusetts General Hospital, Harvard Medical School

++

Boston, MA

++
++

Jessica C. Shand, MD

++

Clinical Fellow

++

Pediatric Oncology Branch

++

National Cancer Institute

++

Bethesda, MD

++
++

Nicholas B. Shannon, PhD (Cantab), BSc (Ebol)

++

Research Associate

++

Cambridge Research Institute

++

Cambridge, United Kingdom

++
++

A. Eliot Shearer, MD

++

Clinical Research Fellow

++

Department of Otolaryngology – Head and Neck Surgery

++

University of Iowa

++

Iowa City, IA

++
++

Alan Shiels, PhD

++

Professor

++

Department of Ophthalmology and Visual Sciences

++

Washington University School of Medicine

++

St. Louis, MO

++
++

Dolores Shoback, MD

++

Professor of Medicine

++

Department of Medicine

++

University of California San Francisco

++

San Francisco, CA

++
++

Brian Shuch, MD

++

Research Fellow

++

Urologic Oncology Branch

++

National Cancer Institute

++

Bethesda, MD

++
++

Teepu Siddique, MD

++

Professor and Director, Neuromuscular Medicine/Neurogenetics Division

++

Department of Neurology and Clinical Neurosciences

++

Northwestern University Feinberg School of Medicine

++

Chicago, IL

++
++

Lewis R. Silverman, MD

++

Associate Professor

++

Department of Medicine

++

Mount Sinai School of Medicine

++

New York, NY

++
++

Katherine Sims, MD

++

Director Mitochondrial Clinic

++

Neurology Department, Massachusetts General Hospital

++

Professor of Neurology, Harvard Medical School

++

Boston, MA

++
++

Pamela Sklar, MD, PhD

++

Professor

++

Departments of Psychiatry, Neurosciences, and Genetics and Genomic Medicine

++

Mount Sinai School of Medicine

++

New York, NY

++
++

Thomas J. Smith, MD

++

Professor of Oncology

++

Sidney Kimmel Comprehensive Cancer Center

++

Johns Hopkins University

++

Baltimore, MD

++
++

Jung Sook Ha, MD, PhD

++

Associate Professor

++

Department of Laboratory Medicine

++

Keimyung University School of Medicine

++

Daegu, South Korea

++
++

Elizabeth A. Sparks, APNG

++

McKusick-Nathans Institute of Genetic Medicine

++

Johns Hopkins University

++

Baltimore, MD

++
++

Martin H. Steinberg, MD

++

Professor of Medicine

++

Department of Medicine

++

Boston University Medical Center

++

Boston, MA

++
++

Douglas R. Stewart, MD

++

Investigator, Clinical Genetics Branch

++

Division of Cancer Epidemiology and Genetics

++

National Cancer Institute

++

Rockville, MD

++
++

James K. Stoller, MD, MS

++

Chairman, Education Institute Cleveland Clinic; Jean Wall Bennett Professor of Medicine, Cleveland Clinic Lerner College of Medicine; Samson Global Leadership Academy Endowed Chair

++

Educational Institute

++

Cleveland Clinic

++

Cleveland, OH

++
++

Constantine A. Stratakis, MD, DMSci

++

Scientific Director, Senior Investigator

++

Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)

++

National Institutes of Health

++

Bethesda, MD

++
++

Aaron Sturrock, MRCP

++

Department of Medical Genetics

++

University of British Columbia

++

Vancouver, BC

++
++

Prasanth Surumpudi, MD

++

Fellow

++

Division of Endocrinology/Metabolism

++

David Geffen School of Medicine, University of California,

++

Los Angeles

++

Los Angeles, CA

++
++

Talia H. Swartz, MD

++

Assistant Professor

++

Department of Medicine

++

Mount Sinai School of Medicine

++

New York, NY

++
++

Ronald Swerdloff, MD

++

Professor of Medicine

++

Chief, Division of Endocrinology/Metabolism

++

David Geffen School of Medicine, University of California, Los Angeles

++

Los Angeles, CA

++
++

Eva Szarek, PhD, MProjMg

++

Fellow

++

Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)

++

National Institutes of Health

++

Bethesda, MD

++
++

Wen-Hann Tan, BMBS

++

Attending Physician in Genetics

++

Division of Genetics

++

Boston Children's Hospital

++

Boston, MA

++
++

Polakit Teekakirikul, MD

++

Clinical Fellow in Medicine

++

Department of Medicine

++

Mount Auburn Hospital and Harvard Medical School

++

Cambridge, MA

++
++

Kathryn Teng, MD

++

Director, Center for Personalized Health

++

Medicine Institute

++

Cleveland Clinic

++

Cleveland, OH

++
++

Josephy V. Thakuria, MD, MMSc

++

Attending Physician

++

Division of Medical Genetics

++

Massachusetts General Hospital

++

Boston, MA

++
++

Chloe L. Thio, MD

++

Associate Professor

++

Department of Medicine, Infectious Diseases

++

Johns Hopkins University

++

Baltimore, MD

++
++

Felicitas Thol, MD

++

Attending Physician

++

Department of Hematology, Hemostasis, Oncology, and Stem Cell Transplantation

++

Hannover Medical School

++

Hannover, Germany

++
++

Paul D. Thompson, MD

++

Director, Cardiology and Cardiovascular Research

++

Department of Cardiology

++

Hartford Hospital

++

Hartford, CT

++
++

Peter Tishler, MD

++

Associate Professor

++

Division of Medical Genetics

++

Brigham and Women's Hospital and Harvard Medical School

++

Boston, MA

++
++

Yaron Tomer, MD

++

Professor

++

Department of Medicine

++

Mount Sinai School of Medicine

++

New York, NY

++
++

Vicente Torres, MD, PhD

++

Director

++

Translational Polycystic Kidney Disease Center

++

Mayo Clinic

++

Rochester, MN

++
++

Isabelle Touitou, MD, PhD

++

Professor of Genetics

++

Laboratoire de génétique des maladies rares et auto-inflammatoires

++

CHRU de Montpellier, France; INSERM U844, Montpellier, France; Université Montpellier 1, UM1

++

Montpellier, France

++
++

Gerard C. Tromp, PhD

++

Staff Scientist

++

The Sigfried and Janet Weis Center for Research

++

Geisinger Health System

++

Danville, PA

++
++

Betty P. Tsao, PhD

++

Professor

++

Department of Medicine

++

University of California, Los Angeles

++

Los Angeles, CA

++
++

Hensin Tsao, MD, PhD

++

Associate Professor

++

Dermatology Department

++

Harvard Medical School

++

Boston, MA

++
++

Ahmet Z. Uluer, DO, MS

++

Director, Adult Cystic Fibrosis Program

++

Department of Medicine

++

Brigham and Women's Hospital and Boston Children's Hospital Cystic Fibrosis Center

++

Boston, MA

++
++

Ryan Ungaro, MD

++

Fellow

++

Department of Medicine

++

Mount Sinai School of Medicine

++

New York, NY

++
++

Esther van de Vosse, PhD

++

Assistant Professor

++

Department of Infectious Diseases

++

Leiden University Medical Center

++

Leiden, Netherlands

++
++

Vivianna Van M. Deerlin, MD, PhD

++

Associate Professor

++

Department of Pathology and Laboratory Medicine

++

Perelman School of Medicine at the University of Pennsylvania

++

Philadelphia, PA

++
++

Oriol S. Vidal, MD, PhD

++

Staff Pulmonologist

++

Servei de Pneumologia

++

Hospital de la Canta Creu i Sant Pau

++

Barcelona, Spain

++
++

Steven G. Waguespack, MD

++

Associate Professor and Deputy Department Chair

++

Dept. of Endocrine Neoplasia & Hormonal Disorders

++

University of Texas M.D. Anderson Cancer Center

++

Houston, TX

++
++

Mona Walimbe, MD

++

Clinical Fellow

++

Department of Medicine

++

University of California San Francisco

++

San Francisco, CA

++
++

Shawn S. Wallery, MD

++

Neuromuscular Medicine Fellow

++

Department of Neurology and Clinical Neurosciences

++

Northwestern University Feinberg School of Medicine

++

Chicago, IL

++
++

Christopher E. Walsh, MD, PhD

++

Associate Professor

++

Department of Medicine

++

Mount Sinai School of Medicine

++

New York, NY

++
++

Kyle M. Walsh, PhD

++

Assistant Professor

++

Division of Neuroepidemiology

++

University of California San Francisco

++

San Francisco, CA

++
++

Ethylin Wang Jabs, MD

++

Professor

++

Genetics and Genomic Sciences

++

Mount Sinai School of Medicine

++

New York, NY

++
++

Ronald Wapner, MD

++

Professor

++

Department of Obstetrics and Gynecology

++

Columbia University Medical Center

++

New York, NY

++
++

Melissa Wasserstein, MD

++

Associate Professor

++

Genetics and Genomic Sciences

++

Mount Sinai School of Medicine

++

New York, NY

++
++

Grant W. Waterer, MBBS, PhD

++

Professor of Medicine

++

School of Medicine and Pharmacology Royal Perth Hospital Unit

++

University of Western Australia

++

Perth, Australia

++
++

Bryn D. Webb, MD

++

Instructor

++

Pediatrics, Genetics and Genomic Sciences

++

Mount Sinai School of Medicine

++

New York, NY

++
++

James Weisfeld-Adams, MD

++

Instructor

++

Genetics and Genomic Sciences

++

Mount Sinai School of Medicine

++

New York, NY

++
++

Constance Weismann, MD

++

Assistant Professor

++

Pediatrics

++

Yale University School of Medicine

++

New Haven, CT

++
++

Scott Weiss, MD, MS

++

Professor of Medicine

++

Department of Medicine

++

Harvard Medical School

++

Boston, MA

++
++

Shelly Weiss, MS, CGC

++

Regional Medical Specialist

++

Preventive Care

++

Myriad Genetics

++

Salt Lake City, UT

++
++

Duane R. Wesemann, MD, PhD

++

Associate Professor of Medicine

++

Division of Rheumatology, Immunology and Allergy,

++

Department of Medicine

++

Brigham and Women's Hospital and Harvard Medical School

++

Boston, MA

++
++

David C. Whitcomb, MD, PhD

++

Giant Eagle Professor of Cancer Genetics

++

Professor of Medicine, Cell Biology & Physiology, and Human Genetics

++

Chief Division of Gastroenterology, Hepatology and Nutrition

++

Department of Medicine

++

University of Pittsburgh Medical Center

++

Pittsburgh, PA

++
++

Janey L. Wiggs, MD, PhD

++

Associate Professor of Ophthalmology

++

Harvard Medical School

++

Massachusetts Eye and Ear Infirmary

++

Boston, MA

++
++

Louise Wilkins-Haug, MD, PhD

++

Associate Professor

++

Department of Obstetrics, Gynecology, and Reproductive

++

Biology

++

Brigham and Women's Hospital

++

Boston, MA

++
++

Marc S. Williams, MD

++

Director

++

Genomic Medicine Institute

++

Geisinger Health System

++

Danville, PA

++
++

Wojciech Wisniewski, MD, PhD

++

Assistant Professor

++

Department of Molecular and Human Genetics

++

Baylor College of Medicine

++

Houston, TX

++
++

Margaret R. Wrensch, MPH, PhD

++

Stanley D. Lewis and Virginia S. Lewis Endowed Chair in Brain Tumor Research

++

Department of Neurological Surgery

++

University of California San Francisco

++

San Francisco, CA

++
++

Katie Wusik, MS, CGC

++

Genetic Counselor

++

Department of Pediatrics

++

Cincinnati Children's Hospital Medical Center

++

Cincinnati, OH

++
++

Paraskevi Xekouki, MD, DMedSci

++

Fellow

++

Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)

++

National Institutes of Health

++

Bethesda, MD

++
++

Amy Yang, MD

++

Assistant Professor

++

Genetics and Genomic Medicine

++

Mount Sinai School of Medicine

++

New York, NY

++
++

Mabel Yau, MD

++

Instructor

++

Department of Pediatrics

++

Mount Sinai School of Medicine

++

New York, NY

++
++

Elaine H. Zackai, MD

++

Director

++

Clinical Genetics

++

Children's Hospital of Philadelphia

++

Philadelphia, PA

++
++

Ulrich M. Zanger, PhD

++

Deputy Head and Section Head

++

Molecular and Cell Biology

++

Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology

++

Stuttgart, Germany

++
++

Hitoshi Zembutsu, MD, PhD

++

Assistant Professor

++

Laboratory of Molecular Medicine

++

The Institute of Medical Science, The University of Tokyo

++

Tokyo, Japan

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