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Developed in parallel to the 6th edition of Emery and Rimoin's Principles and Practice of Medical Genetics, and featuring 174 original contributions from the many authors of the full set, the new, one-volume Emery and Rimoin's Essential Medical Genetics expertly condenses and synthesizes the most clinically-relevant content, for convenient desk reference for individuals. Helping to bridge the gap between high-level molecular genetics and individual application, it follows the multi-volume set in encompassing scientific fundamentals, full spectrum discussion of major inherited disorders, and actionable therapies.
The complete 4,700 page 6th edition of Emery and Rimoin's Principles and Practice of Medical Genetics is available in a range of purchasing options for institutions on ScienceDirect.

 

Principles and Practice of Medical Genetics, By David Rimoin, Reed Pyeritz, Bruce Korf


Emery and Rimoin's Essential Medical Genetics, 1st Edition

By David Rimoin, Reed Pyeritz, Bruce Korf

 

KEY FEATURES


  • Features 174 summarized contributions concisely discussing advances in cancer genetics, genomic technologies, and molecular genetics
  • Contains hundreds of full color illustrations supporting users with identification, concept illustration, and method processing

 

 



Copyright 2013 Elsevier.
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  Contributors
Contributors

David Aitken, PhD
 
Consultant Clinical Scientist
 
Institute of Medical Genetics
 
University of Glasgow Medical School
 
Yorkhill, Glasgow, United Kingdom
 
Prenatal Screening for Neural Tube Defects and Aneuploidy
 
 
 
 
 
Garg Abhimanyu, MD
 
Professor of Internal Medicine
 
Chief, Division of Nutrition and Metabolic Diseases
 
UT Southwestern Medical Center at Dallas
 
Dallas, TX
 
Genetic Analysis of Complex Traits
 
 
 
 
 
David B. Allison, PhD
 
Professor and Head
 
Section on Statistical Genetics
 
Biostatistics
 
University of Alabama at Birmingham
 
Birmingham, AL
 
Genetic Analysis of Complex Traits
 
 
 
 
 
Michael G. Anderson, PhD
 
Assistant Professor
 
Department of Physiology and Biophysics
 
The University of Iowa
 
Iowa City, IA
 
Glaucoma
 
 
 
 
 
Stylianos Antonarakis, MD, DSc
 
Professor and Chairman
 
Genetic Medicine and Development
 
University of Geneva Medical School
 
Geneva, Switzerland
 
Mutations in Human Disease: Nature and Consequences
 
 
 
 
 
Ingrun Anton-Lamprecht, DSc
 
Professor and former Director
 
Ultrastructure Research of the Skin
 
Department of Dermatology
 
Heiligkrewuzsteinach, Germany
 
Epidermolysis Bullosa
 
 
 
Tetsuo Ashizawa, MD
 
Professor and Chairman, John Sealy Chair of Neurology
 
Department of Neurology
 
The University of Texas Medical Branch
 
Galveston, TX
 
Myotonic Dystrophy
 
 
 
 
 
Felicia B. Axelrod, MD
 
Director
 
Dysautonomial Treatment and Evaluation Center
 
Pediatrics and Neurology
 
New York University Medical Center
 
New York, NY
 
Autonomic and Sensory Disorders
 
 
 
 
 
Howard P. Baden, MD
 
Professor of Dermatology
 
Harvard Medical School
 
Dermatologist
 
Massachusetts General Hospital
 
Boston, MA
 
Ichthyosiform Dermatoses
 
 
 
 
 
P. Barth, MD
 
Departments, Clinical Chemistry and Pediatrics
 
University of Amsterdam
 
Academic Medical Center
 
Amsterdam, The Netherlands
 
Peroxisomal Disorders
 
 
 
 
 
J. Bronwyn Bateman, MD
 
Professor and Chair
 
Department of Ophthalmology
 
University of Colorado School of Medicine
 
Denver, CO
 
Strabismus
 
 
 
 
 
Mark Beasley, MD
 
Department of Biostatistics, Section on Statistical Genetics
 
University of Alabama at Birmingham
 
Birmingham, AL
 
Multifactorial Inheritance and Complex Traits
 
 
 
 
 
 
 
David Beeson, PhD
 
Clinical Neurology
 
Oxford University
 
Neuorsciences Group
 
Weatherall Institute of Molecular Medicine
 
The John Radcliffe Hospital
 
Oxford, England, United Kingdom
 
Hereditary and Autoimmune Myasthenias
 
 
 
 
 
Peter H. Beighton, MD, PhD
 
Emeritus Professor of Human Genetics
 
Faculty of Health Sciences
 
University of Cape Town
 
Cape Town, South Africa
 
Hereditary Nonin?ammatory Arthropathies
 
 
 
 
 
Phillip Bennett, MD
 
Institute of Reproductive and Developmental Biology
 
Imperial College School of Medicine
 
London, England, United Kingdom
 
Rhesus and Other Fetomaternal Incompatibilities
 
 
 
 
 
Merrill D. Benson, MD
 
Professor of Pathology and Laboratory Medicine
 
Indiana University School of Medicine
 
Indianapolis, IN
 
Amyloidosis and Other Protein Deposition Diseases
 
 
 
 
 
Katherine Bergwerk, MD
 
Cornea-Genetic Eye Institute
 
Cedars-Sinai Medical Center
 
Los Angeles, CA
 
Anomalies of the Lens
 
 
 
 
 
Wade Berrettini, MD, PhD
 
The Karl E. Rickels Professor of Psychiatry
 
Director, Center for Neurology and Behavior
 
University of Pennsylvania
 
Philadelphia, PA
 
Addictive Disorders
 
 
 
 
 
Lars Bertram, MD
 
Instructor in Neurology
 
Department of Neurology
 
Harvard Medical School
 
Assistant in Genetics
 
Department of Neurology
 
Massachusetts General Hospital
 
Boston, MA
 
Alzheimer Disease and Other Dementias
 
 
 
 
 
Cornelius Boerkoel III, MD, PhD
 
Baylor College of Medicine
 
Department of Molecular and Human Genetics
 
Houston, TX
 
Hereditary Motor and Sensory Neuropathies
 
 
 
 
 
C. Richard Boland, MD
 
Chief, Gastroenterology
 
Internal Medicine
 
Baylor University Medical Center
 
Dallas, TX
 
Cancer of the Colon and Gastrointestinal Tract
 
 
 
 
 
Rose-Mary N. Boustany, MD
 
Professor in Pediatrics and Neurobiology
 
Duke University Medical Center
 
Durham, NC
 
Professor, Department of Pediatrics and Bio-chemistry
 
American University of Beirut
 
Beirut, Lebanon
 
Gangliosidoses and Related Lipid Storage Diseases
 
 
 
 
 
Christopher Bowlus, MD
 
Division of Gastroenterology
 
Department of Internal Medicine
 
University of Caledonia Davis Medical Center
 
Sacramento, CA
 
Iron Metabolism and Related Disorders
 
 
 
 
 
Bruce Budowle, PhD
 
Senior Scientist
 
Laboratory Division
 
Federal Bureau of Investigations
 
Quantico, VA
 
Forensic Genetics
 
 
 
 
 
 
 
John Burn, MD
 
Professor of Clinical Genetics
 
School of Biochemistry and Genetics
 
University of Newcastle-upon-Tyne
 
Newcastle-upon-Tyne, England, United Kingdom
 
Congenital Heart Disease
 
 
 
 
 
Kate Bushby, MD
 
Professor of Neuromuscular Genetics
 
Institute of Human Genetics
 
University of Newcastle-upon-Tyne
 
Newcastle-upon-Tyne, England, United Kingdom
 
Autosomally Inherited Muscular Dystrophies
 
 
 
 
 
Peter H. Byers, MD
 
Professor
 
Departments of Pathology and Medicine
 
University of Washington School of Medicine
 
Director, Medical Genetics Clinic
 
Department of Medicine
 
University of Washington Medical Center
 
Seattle, WA
 
Ehlers-Danlos Syndrome
 
 
 
 
 
Rita Cantor, MD
 
Adjunct Professor
 
Human Genetics
 
University of California—Los Angeles
 
Los Angeles, CA
 
Analysis of Genetic Linkage
 
 
 
 
 
John M. Carethers, MD
 
Professor and Chief, Division of Gastroenterology
 
Internal Medicine
 
University of California—San Diego
 
San Diego, CA
 
Cancer of the Colon and Gastrointestinal Tract
 
 
 
 
 
Katrin M. Carlson, PhD
 
Assistant Professor
 
Department of Medicine
 
University of Chicago
 
Chicago, IL
 
Leukemias, Lymphomas, and Other Related Disorders
 
 
 
 
 
Stephen Cederbaum, MD
 
Professor
 
Psychiatrics, Pediatrics, and Human Genetics
 
University of California--Los Angeles
 
Attending Physician
 
Department of Pediatrics
 
University of California--Los Angeles Medical Center
 
Los Angeles, CA
 
Amino Acid Metabolism
 
 
 
 
 
Yuan-Tsong Chen, MD, PhD
 
Professor and Chief
 
Department of Pediatrics
 
Duke University Medical Center
 
Durham, NC
 
Director and Distinguished Research Fellow
 
Institute of Biomedical Sciences
 
Academia Sinica
 
Taipei, Taiwan
 
Disorders of Carbohydrate Metabolism
 
 
 
 
 
J. Roy Chowdhury, MD, MRCP
 
Liver Research Center
 
Albert Einstein College of Medicine
 
Bronx, NY
 
Bile Pigment Metabolism and Disorders
 
 
 
 
 
Angus John Clarke, DM
 
Professor in Clinical Genetics
 
Medical Genetics
 
Cardiff University
 
Honorary Consultant in Clinical Genetics
 
Institute of Medical Genetics
 
University of Wales College of Medicine
 
Cardiff, Wales, United Kingdom
 
Congenital (Structural) Myopathies
 
 
 
 
 
M. Michael Cohen Jr., DMD, PhD
 
Professor Emeritus of Pediatrics
 
Dalhousie University
 
IWK Hospital
 
Halifax, NS, Canada
 
Craniofacial Disorders
 
 
 
 
 
 
 
David Cole, MD, PhD
 
Banting Institute
 
Toronto, ON, Canada
 
Parathyroid Disorders
 
 

J. Michael Connor, MD, DSc

 


Professor of Medical Genetics and Chairman

 


Division of Developmental Medicine

 


Department of Medical Genetics

 

Professor of Medical Genetics and Chairman Division of Developmental Medicine Department of Medical Genetics

 

Professor of Medical Genetics and Chairman Division of Developmental Medicine Department of Medical Genetics

 

Professor of Medical Genetics and Chairman Division of Developmental Medicine Department of Medical Genetics

 

Professor of Medical Genetics and Chairman Division of Developmental Medicine Department of Medical Genetics

 

Professor of Medical Genetics and Chairman Division of Developmental Medicine Department of Medical Genetics

 

Professor of Medical Genetics and Chairman Division of Developmental Medicine Department of Medical Genetics

 

Professor of Medical Genetics and Chairman Division of Developmental Medicine Department of Medical Genetics

 

Professor of Medical Genetics and Chairman Division of Developmental Medicine Department of Medical Genetics

 

Professor of Medical Genetics and Chairman Division of Developmental Medicine Department of Medical Genetics

 

Professor of Medical Genetics and Chairman Division of Developmental Medicine Department of Medical Genetics

 

Professor of Medical Genetics and Chairman Division of Developmental Medicine Department of Medical Genetics
University of Glasgow

 


Director of the West of Regional Genetics Service

 


and the Scottish Newborn Screening Service

 


Institute of Medical Genetics

 


Yorkhill Hospitals

 


Glasgow, United  Kingdom

 

 

 
 
 
Jackie Cook, BA, MB BS, FRCP
 
Consultant Clinical Geneticist
 
North Trent Clinical Genetics Service
 
Sheffield Children’s Hospital
 
Sheffield, England, United Kingdom
 
Mendelian Inheritance
 
 
 
 
 
Pierre Corvol, MD
 
Laboratoire de Medecine Experimentale
 
College de France
 
Paris, France
 
Molecular Basis of Human Hypertension
 
 
 
 
 
Edward Cotlier, MD
 
New York State Institute on Developmental Disabilities
 
New York, NY
 
Anomalies of the Lens
 
 
 
 
 
Garry R. Cutting, MD
 
Professor, Pediatrics and Medicine
 
Institute of Genetic Medicine
 
Johns Hopkins University
 
Baltimore, MD
 
Cystic Fibrosis
 
 
 
 
 
Alvin E. Davis III, MD
 
Professor of Pediatrics
 
Harvard Medical School
 
Senior Investigator
 
CBR Institute for Biomedical Research
 
Boston, MA
 
Complement Defects
 
 
 
 
 
Samir Deeb, PhD
 
Research Professor of Medicine and Genome Sciences
 
University of Washington
 
Seattle, WA
 
Color Vision Defects
 
 
 
J. Raymond DePaulo Jr., MD
 
Henry Shipps Professor and Director
 
Department of Psychiatry and Behavioral Sciences
 
Johns Hopkins University
 
Psychiatrist in Chief
 
Psychiatry and Behavioral Sciences
 
Johns Hopkins Hospital
 
Baltimore, MD
 
Major Mood Disorders
 
 
 
 
 
Robert Desnick, MD, PhD
 
Mount Sinai School of Medicine
 
New York, NY
 
Therapeutic Strategies in Genetic Disease
 
 
 
 
 
Martin Dichgans, MD
 
Neurologische Klinik
 
Klinikum Grosshadern
 
Munich, Germany
 
Cerebrovascular Disorders
 
 
 
 
 
Dian Donnai MB, BS
 
Professor, Department of Medical Genetics
 
St. Mary’s Hospital
 
Manchester, England, United Kingdom
 
Human Malformations
 
 
 
 
 
Patricia A. Donohoue, MD
 
Professor
 
Department of Pediatrics
 
University of Iowa
 
Children’s Hospital of Iowa
 
Iowa City, IA
 
Disorders of the Body Mass
 
 
 
 
 
Alysa Doyle, PhD
 
Director of Neuropsychiatry
 
Clinical Research Program in Pediatric Psychopharmacology
 
Massachusetts General Hospital
 
Harvard Medical School
 
Boston, MA
 
Attention Deficit Hyperactivity Disorder and Other Behavioral Disorders
 
 
 
 
 
 
 
Victor Dubowitz, MD
 
Department of Paediatrics and Neonatal Medicine
 
Imperial College School of Medicine
 
London, England, United Kingdom
 
Congenital Muscular Dystrophies
 
 
 
 
 
Sherman Elias, MD
 
John J. Sciarra Professor and Chair
 
Department of Obstetrics and Gynecology
 
Feinburg School of Medicine
 
Chicago, IL
 
Techniques for Prenatal Diagnosis
 
 
 
 
 
Beverly S. Emanuel, PhD
 
The Charles E.H. Upham Professor of Pediatrics
 
University of Pennsylvania School of Medicine
 
Division Chief, Division of Human Genetics
 
Pediatrics
 
Children’s Hospital of Philadelphia
 
Philadelphia, PA
 
Deletions and Other Structural Abnormalities of the Autosomes
 
 
 
 
 
Alan E.H. Emery, MD, PhD, DSc
 
Professor and Chief Scientifc Advisor
 
European Neuromuscular Centre
 
Department of Neurology
 
Royal Devon and Exeter Hospital
 
Exeter, England, United Kingdom
 
Duchenne and Other X-Linked Muscular Dystrophies
 
 
 
 
 
Richard W. Erbe, MD
 
Professor, Pediatrics and Medicine
 
State University of New York at Buffalo
 
Chief, Division of Genetics
 
The Women and Children’s Hospital of Buffalo
 
Buffalo, NY
 
Neonatal Screening
 
 
 
 
 
Henry Erlich, PhD
 
Vice President
 
Discovery Research
 
Roche Molecular Systems, Inc.
 
Alameda, CA
 
Autoimmunity: Genetics and Immunological Mechanisms
 
 
 
 
 
Rena Falk, MD
 
Ahmanson Department of Pediatrics
 
Medical Genetics and Birth Defects Center
 
Cedars-Sinai Medical Center
 
Los Angeles, CA
 
Hereditary Hearing Impairment
 
 
 
 
 
Stephen V. Faraone, PhD
 
Professor, Department of Epidemiology
 
Harvard School of Public Health
 
Director, Pediatric Psychopharmacology and Genetic Research
 
Massachusetts General Hospital
 
Boston, MA
 
Attention Deficit Hyperactivity Disorder and Other Behavioral Disorders
 
 
 
 
 
Malcolm A. Ferguson-Smith, MB
 
Emeritus Professor of Pathology
 
Centre for Veterinary Science
 
University of Cambridge
 
Cambridge, England, United Kingdom
 
Cytogenetic Analysis
 
 
 
 
 
Robert  E. Ferrell, PhD
 
Professor
 
Department of Human Genetics
 
University of Pittsburgh Graduate School of Public Health
 
Pittsburgh, PA
 
Hereditary Disorders of the Lymphatic and Venous Systems
 
 
 
 
 
John H. Fingert, MD, PhD
 
Department of Ophthalmology and Visual Sciences
 
University of Iowa Hospitals and Clinics
 
Iowa City, IA
 
Glaucoma
 
 
 
 
 
John K. Fink, MD
 
Professor
 
Department of Neurology
 
University of Michigan
 
Ann Arbor, MI
 
Hereditary Spastic Paraplegia
 
 
 
 
 
 
 
Nathan Fischel-Ghodsian, MD
 
Department of Pediatrics
 
Cedars-Sinai Medical Center
 
Los Angeles, CA
 
Hereditary Hearing Impairment
 
 
 
 
 
Delbert Fisher, MD
 
Professor Emeritus
 
Pediatrics and Medicine
 
Vice President, Science and Innovation
 
Quest Diagnostics, Inc.
 
Quest Diagnostics Nichols Institute
 
San Juan Capistrano, CA
 
Thyroid Disorders
 
 
 
 
 
T. Foroud, PhD
 
Assistant Professor
 
Department of Medical and Molecular Genetics and Psychiatry
 
Indian University School of Medicine
 
Indianapolis, IN
 
Addictive Disorders
 
 
 
 
 
Jan M. Friedman, MD, PhD
 
Professor
 
Department of Medical Genetics
 
University of British Columbia
 
Medical Geneticist
 
Children’s and Woman’s Health Centre
 
Vancouver, BC, Canada
 
Clinical Teratology
 
 
 
 
 
Josef Gecz, PhD
 
Associate Professor
 
Paediatrics
 
The University of Adelaide
 
Principal Molecular Geneticist
 
Genetic Medicine
 
Women’s and Children’s Hospital
 
North Adelaide, SA, Australia
 
Fragile X Syndrome and Other Causes of X-Linked Mental Handicap
 
 
 
 
 
Jeffrey William Gilger, PhD
 
Professor and Associate Dean for Research and Faculty Development
 
School of Education
 
Purdue University
 
West Lafayette, IN
 
Dyslexia and Other Specific Learning Disorders
 
 
 
 
 
David Ginsburg, MD
 
Howard Hughes Medical Institute
 
University of Michigan Medical Center
 
Research Bureau
 
Ann Arbor, MI
 
Hemophilias and Other Disorders of the Hemostasis
 
 
 
 
 
Bertil Glader, MD, PhD
 
Professor of Pediatrics, Chief-Division of Hematology/Oncology Program
 
Stanford University School of Medicine
 
Stanford, CA
 
Other Hereditary Red Blood Cell Disorders
 
 
 
 
 
Lowell A. Goldsmith, MD
 
Professor of Dermatology and Epidermiology
 
Department of Dermatology
 
University of North Carolina, School of Medicine and Public Health
 
Chapel Hill, NC
 
Other Genetic Disorders of the Skin
 
 
 
 
 
Stephen I. Goodman, MD
 
Professor of Pediatrics
 
University of Colorado School of Medicine
 
Denver, CO
 
Organic Acidemias and Disorders of Fatty Acid Oxidation
 
 
 
 
 
Judith Goodship, MD
 
Professor of Medical Genetics
 
International Centre for Life
 
Newcastle-upon-Tyne, England, United Kingdom
 
Congenital Heart Disease
 
 
 
 
 
John M. Graham Jr., MD, ScD
 
Professor of Pediatrics
 
David Geffen School of Medicine at UCLA
 
Director of Clinical Genetics and Dysmorphology
 
Medical Genetics Institute, Steven Spielberg Pediatric Research Center
 
Cedars-Sinai Medical Center
 
Los Angeles, CA
 
Abnormal Body Size and Proportion
 
 
 
 
 
Gail Graham
 
Alberta Children’s Hospital
 
Calgary, Alberta, Canada
 
Sex Chromosome Anomalies
 
 
 
 
 
Peter J. Grant, MD, FRCP
 
Professor of Medicine
 
Academic Unit of Molecular Vascular Medicine
 
University of Leeds
 
Leeds, West Yorkshire, United Kingdom
 
Common Genetic Determinants of Coagulation and Fibronolysis
 
 
 
 
 
Anthony R. Gregg, MD
 
Chief, Division of Maternal and Fetal Medicine
 
Medical Director of Genetics, Associate Professor
 
Department of Obstetrics and Gynecology
 
University of South Carolina School of Medicine
 
Columbia, SC
 
Preeclampsia
 
 
 
 
 
Wayne W. Grody, MD, PhD
 
Divisions of Medical Genetics and Molecular Pathology
 
Departments of Pathology and Laboratory Medicine, Pediatrics, and Human Genetics
 
UCLA School of Medicine
 
Director
 
Diagnostic, Molecular, Pathology, and Laboratory Medicine
 
UCLA Medical Center
 
Los Angeles, CA
 
Diagnostic Molecular Genetics
 
 
 
 
 
Jeffrey Gruen, MD
 
Department of Pediatrics 
 
Yale University School of Medicine
 
New Haven, CT
 
Iron Metabolism and Related Disorders
 
 
 
 
 
Annette Grueters, MD
 
Professor, Department of Pediatrics
 
Pediatric Endocrinology
 
Charité Children’s Hospital
 
Humboldt University
 
Berlin, Germany
 
Thyroid Disorders
 
 
 
 
 
Gunnar Gudmundsson, MD
 
Assistant Professor
 
Faculty of Medicine, Pharmacology, and Toxicology
 
University of Iceland
 
Assistant Director
 
Respiratory Medicine, Allergy, and Sleep
 
Landspitali University Hospital
 
Reykjavik, Iceland
 
Interstitial and Restrictive Pulmonary Disorders
 
 
 
 
 
Alan E. Guttmacher, MD
 
Deputy Director
 
National Human Genome Research Institute
 
National Institutes of Health
 
Bethesda, MD
 
Hereditary Hemorrhagic Telagiectasia
 
 
 
 
 
Bevra Hahn, MD
 
Professor and Director
 
Division of Rheumatology
 
University of California—Los Angeles
 
Los Angeles, CA
 
Systemic Lupus Erythematosus
 
 
 
 
 
Judith G. Hall, MD
 
Professor of Pediatrics and Medical Genetics
 
University of British Columbia and British Columbia’s Children’s Hospital
 
Vancouver, BC, Canada
 
Arthrogryposes (Multiple Congeital Contractures)
 
 
 
 
 
James Hanson, MD
 
Division of Cancer Control and Population Sciences
 
National Cancer Institute
 
Bethesda, MD
 
Clinical Teratology
 
 
 
 
 
Michael Hayden, MD, PhD
 
Department of Medical Genetics
 
University of British Columbia
 
Vancouver, BC, Canada
 
Basal Ganglia Disorders
 
 
 
 
 
Geoffrey N. Hendy, PhD
 
Professor of Medicine
 
McGill University
 
Assistant Director
 
Calcium Laboratory
 
Royal Victoria Hospital
 
Montreal, Quebec, Canada
 
Parathyroid Disorders
 
 
 
 
 
Harry R. Hill, MD
 
Professor
 
Departments of Pediatrics, Pathology, and Medicine
 
University of Utah Medical Center
 
Salt Lake City, UT
 
Disorders of the Leukocyte Function
 
 
 
 
 
Richard E. Hillman, MD
 
Professor of Child Health/Biochemistry/Pathology
 
University of Missouri—Columbia School of Medicine
 
Director of Metabolic Genetics
 
Department of Child Health
 
University of Missouri Hospital and Clinics
 
Columbia, MO
 
Renal Tubular Disorders
 
 
 
 
 
Kurt Hirschhorn, MD
 
Professor
 
Departments of Pediatrics and Human Genetics
 
Mount Sinai School of Medicine
 
New York, NY
 
Immunodeficiency Disorders
 
 
 
 
 
Rochelle Hirschhorn, MD
 
Professor
 
Department of Medicine
 
New York University School of Medicine
 
Attending Physician
 
Tisch Hospital
 
New York, NY
 
Immunodeficiency Disorders
 
 
 
 
 
Carolyn Y. Ho, MD
 
Cardiovascular Division
 
Brigham and Women’s Hospital
 
Boston, MA
 
Cardiomyopathies
 
 
 
 
 
Susan Hodge, DSc
 
Professor
 
Psychiatry and Biostatistics
 
Columbia University
 
New York, NY
 
Segregation Analysis
 
 
 
 
 
William A. Horton, MD
 
Professor, Molecular Genetics
 
Oregon Health and Science University
 
Director
 
Research Department
 
Shriners’ Hospitals for Children
 
Portland, OR
 
Abnormalities of Bone Structure
 
 
 
 
 
Gary Hunninghake, MD
 
Professor and Director
 
Internal Medicine
 
University of Iowa Carver College of Medicine
 
General Hospital
 
College of Medicine
 
Iowa City, IA
 
Interstitial and Restrictive Pulmonary Disorders
 
 
 
 
 
Ethylin Wang Jabs, MD
 
Dr. Frank V. Sutland Professor of Pediatric Genetics
 
Professor of Pediatrics, Medicine, and Surgery
 
Institute of Genetic Medicine/Pediatrics
 
Johns Hopkins University School of Medicine
 
Baltimore, MD
 
Craniosynostosis
 
 
 
 
 
Jaak Jaeken, MD, PhD
 
Professor of Pediatrics
 
Katholiere Universiteit Leuven
 
Director
 
Center for Metabolic Disease
 
University Hospital Gasthuisberg
 
Leuven, Belgium
 
Glycosylation
 
 
 
 
 
Hannu Jalanko, MD, PhD
 
Head, Department of Pediatric Nephrology and Transplantation
 
Hospital for Children and Adolescents
 
University of Helsinki 
 
Helsinki, Finland
 
Nephrotic Disorders
 
 
 
 
 
Xavier Jeunemaitre, MD
 
Professor of Genetics
 
Universite Paris 5 and Hopital Europeen Georges Pompidou
 
Paris, France
 
Familial Dysrhythmias and Conduction Disorders
 
 
 
 
 
Marilyn C. Jones, MD
 
Director
 
Dysmorphology and Genetics
 
Children’s Hospital and Health Center
 
San Diego, CA
 
Adjunct Professor of Dysmorphology and Genetics
 
University of California—San Diego
 
La Jolla, CA
 
A Clinical Approach to the Dysmorphic Child
 
 
 
 
 
Anne Joutel
 
Faculte de Medecine Lariboisiere
 
Paris, France
 
Cerebrovascular Disorders
 
 
 
 
 
Heinz Jungbluth, MD, PhD
 
Department of Paediatric Neurology
 
Guy’s Hospital
 
Dubowitz Neuromuscular Centre, Imperial College
 
Hammersmith Hospital
 
London, England, United Kingdom
 
Congenital (Structural) Myopathies
 
 
 
 
 
Michael M. Kaback, MD
 
Professor, Pediatrics and Reproductive Medicine
 
University of California--San Diego School of Medicine
 
Children’s Hospital of San Diego
 
San Diego, CA
 
Heterozygote Testing and Carrier Screening
 
 
 
 
 
 
 
Elaine S. Kamil, MD
 
Clinical Professor of Pediatrics
 
David Geffen School of Medicine at UCLA
 
Clinical Director, Pediatric Nephrology
 
Cedars-Sinai Medical Center
 
Los Angeles, CA
 
Congenital Disorders of the Urinary Tract
 
 
 
 
 
Bronya J.B. Keats, PhD
 
Professor and Chair
 
Department of Genetics
 
Louisiana State University Health Sciences Center
 
New Orleans, LA
 
Population Genetics
 
 
 
 
 
Richard King, MD, PhD
 
Department of Medicine and IHG
 
University of Minnesota
 
Minneapolis, MN
 
Abnormalities of Pigmentation
 
 
 
 
 
Helen Kingston, MD
 
Consultant Clinical Geneticist
 
Academic Department of Medical Genetics and Regional Genetic Service
 
St. Mary’s Hospital
 
Manchester, England, United Kingdom
 
Genetic Assessment and Pedigree Analysis (Patterns of Inheritance)
 
 
 
 
 
Dennis K. Kinney, PhD
 
Associate Professor in Psychology
 
Harvard Medical School
 
Boston, MA
 
Director and Research Psychologist
 
Genetics Laboratory
 
McLean Hospital
 
Belmont, MA
 
Schizophrenia
 
 
 
 
 
Yuri Kobzev, MD, PhD
 
University of Chicago Medical Center
 
Section of Hematology/Oncology
 
Department of Medicine
 
Chicago, IL
 
Leukemias, Lymphomas and Other Related Disorders
 
 
 
 
 
 
 
Julie Korenberg, PhD, MD
 
Geri and Richard Brawerman Chair of Molecular Genetics
 
Professor of Pediatrics and Human Genetics
 
David Geffen School of Medicine and UCLA
 
Los Angeles, CA
 
Chromosomal Basis of Inheritance
 
 

Bruce R. Korf, MD, PhD

 


Wayne H. and Sara Crews Finley Professor of Medical Genetics and Chair

 


Department of Genetics

 

Wayne H. and Sara Crews Finley Professor of Medical Genetics and Chair Department of Genetics

 

Wayne H. and Sara Crews Finley Professor of Medical Genetics and Chair Department of Genetics

 

Wayne H. and Sara Crews Finley Professor of Medical Genetics and Chair Department of Genetics

 

Wayne H. and Sara Crews Finley Professor of Medical Genetics and Chair Department of Genetics

 

Wayne H. and Sara Crews Finley Professor of Medical Genetics and Chair Department of Genetics

 

Wayne H. and Sara Crews Finley Professor of Medical Genetics and Chair Department of Genetics

 

Wayne H. and Sara Crews Finley Professor of Medical Genetics and Chair Department of Genetics

 

Wayne H. and Sara Crews Finley Professor of Medical Genetics and Chair Department of Genetics

 

Wayne H. and Sara Crews Finley Professor of Medical Genetics and Chair Department of Genetics

 

Wayne H. and Sara Crews Finley Professor of Medical Genetics and Chair Department of Genetics

 

Wayne H. and Sara Crews Finley Professor of Medical Genetics and Chair Department of Genetics
University of Alabama at Birmingham

 


Birmingham, Alabama

 

 

 
 
 
Deborah Krakow, MD
 
Medical Genetics Birth Defects Center
 
Cedars-Sinai Medical Center
 
Los Angeles, CA
 
The Dysostoses
 
 
 
 
 
Wayne Lam
 
Honorary Senior Lecturer
 
College of Medicine and Veterinary Medicine
 
University of Edinburgh
 
Consultant Clinical Geneticist
 
Clinical Genetics Service
 
Lothian NHS
 
Edinburgh, Scotland, United Kingdom
 
Mendelian Inheritance
 
 
 
 
 
Lawrence C. Layman, MD
 
Professor and Chief, Section of Reproductive Endocrinology, Infertility, and Genetics
 
Department of Obstetrics and Gynecology
 
The Institute of Molecular Medicine and Genetics
 
The Medical College of Georgia
 
Augusta, GA
 
The Genetic Basis of Female Infertility
 
 
 
 
 
Frank Lehmann-Horn, MD
 
Universitat Ulm
 
Abt. Allgemeine Physiologie
 
Ulm, Germany
 
Nondystrophic Myotonias and Periodic Paralyses
 
 
 
 
 
Jules Leroy, MD
 
Department of Pediatrics/Medical Genetics
 
Ghent State University
 
185 de Pintelaan
 
Ghent, Belgium
 
Oligosacharridoses and Allied Disorders
 
 
 
 
 
Michael Levine, MD
 
Director, Professor of Pedicatrics, Medicine and Pathology
 
Johns Hopkins University
 
Baltimore, MD
 
Vitamin D Metabolism or Action
 
 
 
 
 
Harvey L. Levy, MD
 
Associate Professor
 
Department of Pediatrics
 
Harvard Medical School
 
Senior Associate in Medicine (Genetics)
 
Department of Medicine
 
The Children’s Hospital
 
Boston, MA
 
Neonatal Screening
 
 
 
 
 
Inge Liebaers, MD, PhD
 
Chair and Professor
 
Centre for Medical Genetics
 
University Hospital, Dutch-Speaking Free Brussels University
 
Brussels, Belgium
 
Male Infertility
 
 
 
 
 
Willy Lissens, PhD
 
Head of Molecular Genetics Laboratory
 
Centre for Medical Genetics
 
University Hospital, Dutch-Speaking Free Brussels University
 
Brussels, Belgium
 
Male Infertility
 
 
 
 
 
James E. Loyd, MD
 
Professor of Medicine
 
Division of Allergy, Pulmonary, and Critical Care
 
Vanderbilt University Medical School
 
Nashville, TN
 
Primary Pulmonary Hypertension
 
 
 
 
 
James R. Lupski, MD, PhD
 
Cullen Professor
 
Department of Molecular and Human Genetics
 
Baylor College of Medicine
 
Professor of Pediatrics
 
Texas Children’s Hospital
 
Houston, TX
 
Hereditary Motor and Sensory Neuropathies
 
 
 
 
 
Aldons Lusis, PhD
 
Professor of Medicine-Cardiology/Microbiology
 
Department of Medicine, Division of Cardiology
 
University of California--Los Angeles
 
Los Angeles, CA
 
Lipoprotein and Lipid Metabolism
 
 
 
 
 
Eamonn Richard Maher, MD
 
Professor of Medical Genetics
 
Section of Medical and Molecular Genetics
 
University of Birmingham
 
Honorary Consultant in Clinical Genetics
 
West Midlands Regional Genetics Service
 
Birmingham Women’s Hospital
 
Birmingham, England, United Kingdom
 
Cancer of the Kidney and Urogenital Tract
 
 
 
 
 
Douglas A. Marchuk, PhD
 
Associate Professor
 
Department of Molecular Genetics and Microbiology
 
Duke University
 
Durham, NC
 
Hereditary Hemorrhagic Telangiectasia
 
 
 
 
 
George Martin, MD
 
Department of Pathology
 
University of Washington
 
Seattle, WA
 
The Biologic Basis for Aging: Implications for Medical Genetics
 
 
 
 
 
Irene Maumenee, MD
 
The Wilmer Eye Institute
 
Johns Hopkins Hospital
 
Baltimore, MD
 
Optic Atrophy and Congenital Blindness
 
 
 
 
 
Matthew J. McGinniss, PhD
 
Associate Scientific Director
 
Molecular Genetics
 
Quest Diagnostics Nichols Institute
 
San Juan Capistrano, CA
 
Adjunct Assistant Professor in Pediatrics
 
University of California—San Diego School of Medicine
 
San Diego, CA
 
Heterozygote Testing and Carrier Testing
 
 
 
 
 
Matthew McGue, MD
 
Professor of Psychology
 
University of Minnesota
 
Minneapolis, MN
 
Genetics of Personality
 
 
 
 
 
Victor A. McKusick, MD
 
University Professor of Medical Genetics
 
Institute of Genetic Medicine
 
Johns Hopkins University School of Medicine
 
Baltimore, MD
 
History of Medical Genetics; Morbid Anatomy of the Human Genome
 
 
 
 
 
James F. Meschia, MD
 
Department of Neurology
 
Mayo Clinic
 
Jacksonville, FL
 
Associate Professor of Neurology
 
Mayo Clinic College of Medicine
 
Rochester, MN
 
Cerebrovascular Disorders
 
 
 
 
 
Deborah A. Meyers, PhD
 
Professor of Pediatrics, Medicine, and Public Health Sciences
 
Co-director, Center for Human Genomics
 
Wake Forest University School of Medicine
 
Winston-Salem, NC
 
Asthma
 
 
 
 
 
Maximillian Muenke, MD
 
Senior Investigator and Chief, Medical Genetics Branch
 
National Human Genome Research Institute
 
National Institutes of Health, Department of Health and Human Services
 
Bethesda, MD
 
Human Developmental Genetics
 
 
 
 
 
John C. Mulley, MScAgr, PhD
 
Affiliate Associate Professor
 
School of Molecular and Biomedical Sciences
 
The University of Adelaide
 
Chief Medical Scientist
 
Department of Genetic Medicine
 
Women’s and Children’s Hospital
 
Adelaide, SA, Australia
 
Fragile X Syndrome and Other Causes of X-Linked Mental Handicap
 
 
 
 
 
A. Murphree, MD
 
The Retinoblastoma Center
 
Children’s Hospital
 
4650 Sunset Boulevard
 
Los Angeles, CA
 
Retinoblastoma
 
 
 
 
 
Jeffrey C. Murray, MD
 
Professor of Pediatrics and Biological Sciences
 
University of Iowa
 
Professor of Pediatrics
 
University of Iowa Hospitals and Clinics
 
Iowa City, IA
 
Clefting
 
 
 
 
 
Michael F. Murray, MD
 
Instructor in Medicine
 
Harvard Medical School
 
Associate in Medicine
 
Department of Medicine
 
Divisions of Genetics and Infectious Diseases
 
Brigham and Women’s Hospital
 
Boston, MA
 
Susceptibility and Response to Infection
 
 
 
 
 
Daniel W. Nebert, MD
 
Professor of Environmental Health
 
University of Cincinnati Medical Center
 
Professor,  Department of Pediatrics and Developmental Biology
 
Division of Human Genetics
 
Cincinnati Children’s Hospital Medical Center
 
Cincinnati, OH
 
Pharmacogenetics and Pharmacogenomics
 
 
 
 
 
Lucia Jorge Nebert, PhD
 
Professor, DNA and Human Genomics Institute
 
University of Panama
 
Panama
 
Republic of Panama
 
Pharmacogenetics and Pharmacogenomics
 
 
 
 
 
Maria I. New, MD
 
Professor of Pediatrics
 
Director of Adrenal Steroid Disorders Program
 
Department of Pediatrics
 
The Mount Sinai School of Medicine
 
New York, NY
 
Genetic Disorders of the Adrenal Gland
 
 
 
 
 
Julia A. Newton-Bishop, MD
 
Professor of Dermatology
 
St. James University Hospital and University of Leeds
 
Leeds, Yorkshire, United Kingdom
 
Genetics of Skin Cancer
 
 
 
 
 
Won Ng, PhD
 
Children’s Hospital Los Angeles
 
Biochemical Genetics Lab (Special Chemistry)
 
Pathology and Pediatrics (Division of Medical Genetics)
 
Los Angeles, CA
 
Disorders of Carbohydrate Metabolism
 
 
 
 
 
John Old, PhD
 
Reader in Haematology
 
Department of Cellular Science
 
Oxford University
 
Consultant Clinical Scientist
 
National Haemoglobinopathy Reference Laboratory
 
Oxford Radcliffe Hospitals NHS Trust
 
Oxford, England, United Kingdom
 
Hemoglobinopathies and Thalassemias
 
 
 
 
 
Puneet Opal, MD PhD
 
Baylor College of Medicine
 
Houston, TX
 
Hereditary Ataxias
 
 
 
 
 
Seymour Packman, MD
 
Professor of Pediatrics
 
Director, Biochemical Genetics Service
 
Division of Medical Genetics, Department of Pediatrics
 
University of California--San Francisco
 
San Francisco, CA
 
Copper Metabolism
 
 
 
 
 
Eberhard Passarge, MD
 
Professor of Human Genetics
 
Institut fur Humangenetik
 
Universitatsklinikum Essen
 
Essen, Germany
 
Gastrointestinal Tract and Hepatobiliary Duct System
 
 
 
 
 
David L. Pauls, PhD
 
Professor of Psychiatry (Genetics)
 
Department of Psychiatry
 
Harvard Medical School
 
Director, Psychiatric and Neurodevelopmental Genetics Unit
 
Department of Psychiatry
 
Massachusetts General Hospital
 
Boston, MA
 
Genetics of Tic Disorders
 
 
 
 
 
Leena Peltonen-Palotie, MD, PhD
 
Academy Professor
 
Department of Medical Genetics
 
University of Helsinki
 
Helsinki, Finland
 
Genome Structure and Gene Expression
 
 
 
 
 
Margaret A. Pericak-Vance, PhD
 
James B. Duke Professor of Medicine
 
Director, Duke Center for Human Genetics
 
Duke University Medical Center
 
Durham, NC
 
Alzheimer Disease and Other Dementias
 
 
 
John Phillips III, MD
 
Vanderbilt University of Medicine
 
Medical Center North
 
Nashville, TN
 
Genetic Disorders of the Pituitary Gland
 
 
 
 
 
Amy Potter, MD
 
Fellow, Departments of Medicine and Pediatrics
 
Vanderbilt University Medical Center
 
Nashville, TN
 
Genetic Disorders of the Pituitary Gland
 
 
 
 
 
Asuri Narayan Prasad, MD
 
Associate Professor
 
Department of Pediatrics and Clinical Neurosciences
 
University of Western Ontario
 
Pediatric Neurologist
 
Department of Pediatrics
 
Children’s Hospital of Western Ontario
 
London, ON, Canada
 
The Epilepsies
 
 
 
 
 
Chitra Prasad, MD
 
Associate Professor
 
Department of Pediatrics
 
University of Western Ontario
 
London Health Sciences Centre
 
London, ON, Canada
 
The Epilepsies
 
 
 
 
 
Stefan Pulst, MD
 
Warsaw Chair and Director, Division of Neurology
 
Professor of Medicine
 
UCLA School of Medicine
 
Los Angeles, CA
 
Primary Tumors of the Nervous System

Reed E. Pyeritz, MD, PhD

 

Professor, Medicine and Genetics

 

University of Pennsylvania School of Medicine

 

Chief, Division of Medical Genetics

 


Hospital of the University of Pennsylvania

 

Professor, Medicine and Genetics University of Pennsylvania School of Medicine Chief, Division of Medical Genetics Hospital of the University of Pennsylvania

 

Professor, Medicine and Genetics University of Pennsylvania School of Medicine Chief, Division of Medical Genetics Hospital of the University of Pennsylvania

 

Professor, Medicine and Genetics University of Pennsylvania School of Medicine Chief, Division of Medical Genetics Hospital of the University of Pennsylvania

 

Professor, Medicine and Genetics University of Pennsylvania School of Medicine Chief, Division of Medical Genetics Hospital of the University of Pennsylvania

 

Professor, Medicine and Genetics University of Pennsylvania School of Medicine Chief, Division of Medical Genetics Hospital of the University of Pennsylvania

 

Professor, Medicine and Genetics University of Pennsylvania School of Medicine Chief, Division of Medical Genetics Hospital of the University of Pennsylvania

 

Professor, Medicine and Genetics University of Pennsylvania School of Medicine Chief, Division of Medical Genetics Hospital of the University of Pennsylvania

 

Professor, Medicine and Genetics University of Pennsylvania School of Medicine Chief, Division of Medical Genetics Hospital of the University of Pennsylvania

 

Professor, Medicine and Genetics University of Pennsylvania School of Medicine Chief, Division of Medical Genetics Hospital of the University of Pennsylvania

 

Professor, Medicine and Genetics University of Pennsylvania School of Medicine Chief, Division of Medical Genetics Hospital of the University of Pennsylvania

 

Professor, Medicine and Genetics University of Pennsylvania School of Medicine Chief, Division of Medical Genetics Hospital of the University of Pennsylvania
Philadelphia, Pennsylvania

 

 

 
 
 
 
 
Yaron S. Rabinowitz, MD
 
Cornea-Genetic Eyet Institute
 
Cedars-Sinai Medical Center
 
Los Angeles, CA
 
Anomalies of the Lens
 
 
 
 
 
Leslie J. Raffel, MD
 
Associate Professor of Pediatrics
 
David Geffen School of Medicine
 
University of California—Los Angeles
 
Associate Director, Common Disease Genetics Program
 
Medical Genetics Institute
 
Cedars-Sinai Medical Center
 
Los Angeles, CA
 
Diabetes Mellitus
 
 
 
 
 
Gerald V. Raymond, MD
 
Associate Professor
 
Department of Neurology
 
Johns Hopkins University School of Medicine
 
Neurologist
 
Kennedy Krieger Institute
 
Baltimore, MD
 
Abnormal Mental Development
 
 
 
 
 
Philip Reilly, MD, JD
 
Shriver Center
 
Waltham, MA
 
Legal Issues in Genetics in Medicine

 
  David L. Rimoin, MD, PhD

Director of the Medical Genetics Institute, Steven Spielberg Chair , Cedars-Sinai Medical Center; Professor of Pediatrics, Medicine and Human Genetics,  Director of the Intercampus Medical Genetics Training Program, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, US David L. Rimoin MD.PhD.
Director, Medical Genetics Institute
Steven Spielberg Chair
Cedars-Sinai Medical Center
Professor of Pediatrics, Medicine and Human Genetics David Geffen School of Medicine at UCLA

 

 Piero Rinaldo, MD, PhD

 
Professor of Laboratory Medicine
 
Mayo Clinic College of Medicine
 
Department of Laboratory Medicine
 
Division of Laboratory Genetics
 
Mayo Clinic, Mayo Foundation
 
Rochester, MN
 
Disorders of Fatty Acid Transport and Mitochondrial Oxidation
 
 
 
 
 
Neil Risch, PhD
 
Department of Genetics
 
Stanford University School of Medicine
 
Stanford, CA
 
Genetic Epidemiology
 
 
 
 
 
Charles H. Rodeck, MB BS, DSc
 
Professor and Head of Department
 
Obstetrics and Gynaecology
 
University College—London
 
Director, Fetal Medicine Unit
 
University College Hospital
 
London, England, United Kingdom
 
Rhesus and Other Fetomaternal Incompatibilities
 
 
 
 
 
Jerome Rotter, MD
 
Division of Medical Genetics
 
Medical Genetics Birth Defects Center
 
Cedars-Sinai Medical Center
 
Los Angeles, CA
 
Inflamatory Bowel Disease
 
 
 
 
 
Janet D. Rowley, MD
 
Professor of Medicine
 
University of Chicago
 
Chicago, IL
 
Leukemias, Lymphomas and Other Related Disorders
 
 
 
 
 
R Rüdel, PhD
 
Universitat Ulm
 
Abt. Allgemeine Physiologie
 
Ulm, Germany
 
Nondystrophic Myotonias and Periodic Paralyses
 
 
 
 
 
Sabine Rudnik-Schoneborn, MD
 
Lecturer in Human Genetics
 
Consultant in Medical Genetics
 
Institut fur Humangenetik
 
University of Technology
 
Aachen, Germany
 
Spinal Muscular Atrophies
 
 
 
 
 
Susan Riggs Runge, MD
 
Resident in Dermatology
 
University of North Carolina
 
Chapel Hill, NC
 
Other Genetic Disorders of the Skin
 
 
 
 
 
Sir Michael Rutter
 
Social Genetic and Development Psychiatry Research Centre
 
Institute of Psychiatry
 
London, England, United Kingdom
 
Autism and Autism Spectrum
 
 
 
 
 
Jeremiah M. Scharf, MD, PhD
 
Research Fellow
 
Department of Psychiatry
 
Harvard Medical School
 
Clinical Fellow
 
Department of Neurology
 
Brigham and Women’s Hospital
 
Boston, MA
 
Genetics of Tic Disorders
 
 
 
 
 
Maren T. Scheuner, MD, MPH
 
Visiting Associate Professor
 
Department of Health Services
 
UCLA School of Public Health
 
Los Angeles, CA
 
Genetic Risk Assessment for Common Disease
 
 
 
 
 
Rhona Schreck, PhD
 
Professor of Pediatrics
 
David Geffen School of Medicine
 
University of California—Los Angeles
 
Director of Cytogenetics
 
Medical Genetics Institute
 
Cedars-Sinai Medical Center
 
Los Angeles, CA
 
Fetal Loss
 
 
 
 
 
Daniel R. Scoles, PhD
 
Adjunct Assistant Professor
 
School of Medicine
 
University of California—Los Angeles
 
Research Scientist I
 
Division of Neurology
 
Cedars-Sinai Medical Center
 
Los Angeles, CA
 
Primary Tumors of the Nervous System
 
 
 
 
 
J Seegmiller, MD
 
The Sam and Rose Stein Institute for Research on Aging
 
University of California--San Diego
 
School of Medicine
 
La Jolla, CA
 
Purine and Pyrimidine Metabolism
 
 
 
 
 
Christine E. Seidman, MD
 
Seidman Laboratory
 
Harvard Medical School
 
Department of Genetics
 
Boston, MA
 
Cardiomyopathies
 
 
 
 
 
Stephanie L. Sherman, PhD
 
Professor
 
Department of Human Genetics
 
Emory University School of Medicine
 
Atlanta, GA
 
Population Genetics
 
 
 
Lee P. Shulman, MD
 
Professor of Obstetrics and Gynecology
 
Chief, Division of Reproductive Medicine
 
Department of Obstetrics and Gynecology
 
Northwestern University Feinberg School of Medicine
 
Chicago, IL
 
Techniques for Prenatal Diagnosis
 
 
 
 
 
Teepu Siddique, MD
 
Professor, Departments of Neurology and Cell & Molecular Biology
 
Northwestern University Medical School
 
Chicago, IL
 
Motor Neurone Disease
 
 
 
 
 
David O. Sillence, MB BS, MD
 
Professor of Medical Genetics
 
University of Sydney
 
Sydney
 
Academic Department of Medical Genetics
 
The Children’s Hopsital at Westmead
 
Westmead,  NSW
 
Australia
 
Disorders of Bone Density, Volume and Mineralization
 
 
 
 
 
Edwin K. Silverman, MD, PhD
 
Assistant Professor of Medicine
 
Harvard Medical School
 
Associate Physician
 
Channing Laboratory and Pulmonary and Critical Care Division
 
Department of Medicine
 
Brigham and Women’s Hospital
 
Boston, MA
 
Hereditary Pulmonary Emphysema
 
 
 
 
 
Neil S. Silverman, MD
 
Clinical Professor
 
Obstetrics and Gynecology
 
David Geffen School of Medicine
 
University of California—Los Angeles
 
Medical Director
 
Impatient Obstetric Services
 
Division of Maternal-Fetal Medicine
 
Cedars-Sinai Medical Center
 
Los Angeles, CA
 
Fetal Loss
 
 
 
 
 
Joe Leigh Simpson, MD
 
Ernst W. Bertner Chairman And Professor
 
Department of Obstetrics and Gynaecology
 
Baylor College of Medicine
 
Chief, Obstetrics/Gynecology Services
 
St. Luke’s Episcopal Hospital
 
Houston, TX
 
Techniques for Prenatal Diagnosis
 
 
 
 
 
Shelley D. Smith, PhD
 
Professor
 
Department of Pediatrics
 
University of Nebraska Medical Center
 
Omaha, NE
 
Dyslexia and Other Specific Learning Disorders
 
 
 
 
 
Nancy Spinner, PhD
 
Associate Professor of Human Genetics
 
Abramson Research Center
 
The Children’s Hospital of Philadelphia
 
Philadelphia, PA
 
Deletions and Other Structural Abnormalities of the Autosomes
 
 
 
 
 
Juergen Spranger, MD
 
Professor of Pediatrics
 
Universitaets-Kinderklinik
 
Mainz, Germany
 
Mucopolysaccharidoses
 
 
 
C. Michael Steel, FRCPE, FRSE
 
Professor
 
Bute Medical School
 
University of St. Andrews
 
St. Andrews, Scotland
 
Honorary Consultant in Clinical Genetics
 
Lothian University Hospitals NHS Trust
 
Edinburgh, Scotland
 
United Kingdom
 
Cancer of the Breast and Female Reproductive Tract
 
 
 
 
 
Joel Sugar, MD
 
University of Illinois at Chicago
 
Chicago, IL
 
Defects of the Cornea
 
 
 
 
 
Grant R. Sutherland, PhD, DSc
 
Affiliate Professor of Paediatrics
 
University of Adelaide
 
Foundation Research Fellow
 
Genetic Medicine
 
Women’s and Children’s Hospital
 
Adelaide, SA, Australia
 
Fragile X Syndrome and Other Causes of X-Linked Mental Handicap
 
 
 
 
 
Kinga Szigeti, MD
 
Fellow, Department of Molecular and Human Genetics
 
Baylor College of Medicine
 
Houston, TX
 
Hereditary Motor and Sensory Neuropathies
 
 
 
 
 
Rudolph E. Tanzi, PhD
 
Professor of Neurology (Neuroscience)
 
Department of Neurology
 
Harvard Medical School
 
Geneticist, Neurology
 
Massachusetts General Hospital
 
Boston, MA
 
Alzheimer Disease and Other Dementia
 
 
 
 
 
Hemant Tiwari, PhD
 
Departments of Pathology and Biostatistics
 
Section on Statistical Genetics
 
University of Alabama at Birmingham
 
Birmingham, AL
 
Genetic Analysis of Complex Traits
 
 
 
 
 
Edward Tobias, PhD
 
GlaxoSmithKline Senior Clinical Research Fellow
 
Department of Medical Genetics
 
University of Glasgow
 
Honorary Consultant Clinical Geneticist
 
Ferguson Smith Centre for Clinical Genetics
 
Yorkhill Hospitals
 
Glasgow, Scotland, United Kingdom
 
The Molecular Biology of Cancer
 
 
 
 
 
John Tolmie, MB ChB
 
Institute of Medical Genetics
 
University of Glasgow Medical School
 
Yorkhill Hospitals
 
Glasgow, Scotland, United Kingdom
 
Down Syndrome and Other Autosomal Trisomies
 
 
 
 
 
Jeffrey A. Towbin, MD
 
Professor
 
Department of Pediatrics (Cardiology)
 
Baylor College of Medicine
 
Chief of Pediatric Cardiology
 
Texas Children’s Hospital
 
Houston, TX
 
Familiar Dysrhythmias and Conduction Disorders
 
 
 
 
 
Massimo Trucco, MD
 
Professor of Pediatrics, Pathology, Epidemiology, and Human Genetics
 
University of Pittsburgh
 
Hillman Professor of Pediatric Immunology
 
Department of Pediatrics
 
Rangos Research Center
 
Children’s Hospital of Pittsburgh
 
Pittsburgh, PA
 
Transplantation Genetics
 
 
 
 
 
Betty Tsao, PhD
 
Division of Rheumatology
 
University of California—Los Angeles
 
School of Medicine
 
Los Angeles, CA
 
Systemic Lupus Erythematosus
 
 
 
 
 
Dolly Tyan, PhD
 
Director, Histocompatibility and Immunogenetics
 
Medical Genetics-Birth Defects Center
 
Cedars-Sinai Medical Center
 
Los Angeles, CA
 
Autoimmunity: Genetics and Immunological Mechanisms
 
 
 
 
 
Jouni Uitto, MD, PhD
 
Professor and Chair
 
Department of Dermatology and Cutaneous Biology
 
Thomas Jefferson University Hospital
 
Philadelphia, PA
 
Heritable Diseases Affecting the Elastic Tissues: Cutis Laxa, Pseudoxathoma Elasticum and Related Disorders
 
 
 
 
 
Sheila Unger, MD FRCP(C)
 
Medecin Associe
 
Genetique Medicale
 
Universite de Lausanne and Centre Hospitalier Universitaire Vaudois
 
Lausanne, Switzerland
 
Chondrodysplasias
 
 
 
 
 
Georges van den Berghe, MD
 
Professor Emeritus, Biochemistry
 
University of Louvain Medical School
 
Director of Research (Honorary)
 
Laboratory of Physiological Chemistry
 
Christian de Duve Institute of Cellular Pathology
 
Brussels, Belgium
 
Purine and Pyrimidine Metabolism
 
 
 
 
 
Andre Van Steirteghem, MD, PhD
 
Professor of Embryology and Reproductive Medicine
 
University Hospital, Dutch Speaking Brussels Free University
 
Brussels, Belgium
 
Male Infertility
 
 
 
 
 
Ann P. Walker, MA
 
Adjunct Professor; Director, Genetic Counseling Program
 
Department of Pediatrics, Division of Human Genetics
 
University of California--Irvine
 
Irvine, CA
 
Genetic Counseling
 
 
 
 
 
Douglas Wallace, PhD
 
Donald Bren Professor of Molecular Medicine
 
Director, Center for Molecular and Mitochondrial Medicine and Genetics
 
University of California--Irvine
 
Irvine, CA
 
Mitochondrial Genes in Degenerative Diseases, Cancer and Aging
 
 
 
 
 
Carina Wallgren-Pettersson, MD, PhD
 
Department of Medical Genetics
 
University of Helsinki
 
The Folkhalsan Institute of Medical Genetics
 
Helsinki, Finland
 
Congenital Structural (Myopathies)
 
 
 
 
 
Christopher A. Walsh, MD, PhD
 
Bullard Professor of Neurology
 
Harvard Medical School
 
Investigator, Howard Hughes Medical Institute
 
Department of Neurology
 
Beth Israel Deaconess Medical Center
 
Boston, MA
 
Genetic Disorders of Cerebral Cortical Development
 
 
 
 
 
Prof. Dr. Ronald J.A. Wanders
 
Laboratory of Genetic Metabolic Diseases
 
Department of Pediatrics
 
Emma Children’s Hospital and Clinical Chemistry
 
Academic Medical Center
 
University of Amsterdam
 
Amsterdam, The Netherlands
 
Peroxisomal Disorders
 
 
 
 
 
Margo L. Whiteford, BSc, FRCP
 
Ferguson-Smith Centre for Clinical Genetics
 
Yorkhill Hospitals
 
Dalnair Street
 
Glasgow, Scotland, United Kingdom
 
Down Syndrome and Other Autosomal Trisomies
 
 
 
 
 
Ian D. Young, MD, FRCP
 
Visiting Professor
 
Department of Clinical Genetics
 
Leicester Royal Infirmary
 
Leicester, England, United Kingdom
 
Risk Estimation in Genetic Counseling
 
 
 
 
 
Huda Y. Zoghbi, MD
 
Professor and Investigator
 
Department of Pediatrics, Neurology, Molecular and Human Genetics, and Division of Neuroscience
 
Baylor College of Medicine and Howard Hughes Medical Institute
 
Houston, TX
 
The Hereditary Ataxias
 
 
 
 
 
Jonathan Zonana, MD
 
Professor, Departments of Molecular and Medical Genetics and Pediatrics
 
Oregon Health and Science University
 
Portland, OR
 
Ectodermal Dysplasias