Aims and Scope
The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts:
Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders.
Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .
As a crucial resource to physicians, medical geneticists and associated professionals, the Journal's primary purpose is to report original research in the following areas:
Biochemical Genetics : newborn screening, carrier detection, and the metabolic dysplasia and malformation syndromes;
Cancer Genetics and Cancer Cytogenetics : experimental and molecular approaches;
Clinical Genetics : descriptions of new syndromes, new causal and pathogenetic insights into known syndromes, advances in genetic counseling, nosology, anthropometry, and anthropology, including dermatoglyphics;
Clinical Molecular Genetics : linkage, mapping, and gene sequencing;
Formal Genetics : quantitative, population, and epidemiological genetics;
Molecular Cytogenetics : delineation of syndromes due to chromosomal aberration;
Neuropsychiatric Genetics : reports on novel research on the genetic mechanisms underlying psychiatric and neurological disorders;
Reproductive Genetics : prenatal diagnosis and the genetics of prenatal and perinatal death in humans.
AJMG also reports on animal models of human genetic disorders, ethical, legal and social issues, fetal genetic pathology and teratology, genetic drift, historical aspects of medical genetics, and studies of twins and twinning. The Journal focuses on the themes surrounding careful phenotype analysis by emphasizing meticulous documentation of phenotype and natural history of conditions. In addition to research articles, regular features of the Journal include clinical reports, editorials, rapid publications, and letters to the editor.

EDITOR-IN-CHIEF
Maximilian Muenke (National Human Genome Research Institute, NIH, USA)*
*Dr. Muenke is serving in his personal capacity


FOUNDING EDITOR
John M. Opitz (University of Utah School of Medicine, USA)


DEPUTY EDITOR
Anne Slavotinek (University of California, San Francisco, USA)


ASSOCIATE EDITORS
Carlos A. Bacino (Baylor College of Medicine, USA)
James Bennett (Seattle Children's Hospital, USA)
Elizabeth Bhoj (The Children`s Hospital of Philadelphia, USA)
John C. Carey (Editor-in-Chief Emeritus, University of Utah, USA)
Brian Chung (University of Hong Kong, China)
Nadja Ehmke (Charité, Campus Virchow-Klinikum, Germany)
Carlos Ferreira (Children's National Medical Center, USA)
Katta M. Girisha (Kasturba Medical College, India)
Micheil Innes (University of Calgary, Canada)
Kenjiro Kosaki (Keio University School of Medicine, Japan)
Malgorzata J.M. Nowaczyk (Frameshifts Editor, McMaster University, Canada)
Carlos Prada (Cincinnati Children's Hospital Medical Center, USA)
Helga Toriello (Scientific Reviews Editor, Michigan State University, USA)
Karin Weiss (Genetics institute, Rambam Health Care Campus, Israel)
Tara Wenger (Seattle Children's Hospital, USA)
Ambroise Wonkam (University of Cape Town, South Africa)
Karin Writzl (University Medical Center Ljubljana, Slovenia)
Christiane Zweier (Friedrich-Alexander-University, Erlangen-Nürnberg, Germany)


ADVISORY BOARD
Arthur L. Beaudet (Baylor College of Medicine, USA)
Edward B. Clark (The University of Utah, USA)
Uta Francke (Stanford University, USA)
Judith G. Hall (BC Children's Hospital, Canada)
Raoul C.M. Hennekam (University of Amsterdam, The Netherlands)
Arno G. Motulsky (1923-2018)
Giovanni Neri (Università di Bologna, Italy)
Norio Niikawa (Health Sciences University of Hokkaido, Japan)
Charles R. Scriver (McGill University, Canada)
Joe Leigh Simpson (Florida International University, USA)
Jürgen W. Spranger (University of Mainz, Germany)


EDITORIAL BOARD
Margaret P. Adam (University of Washington School of Medicine, USA)
Yasemin Alanay (Acibadem Maslak Hospital, Turkey)
Holly H. Ardinger (Children’s Mercy Hospitals and Clinics, USA)
Michael J. Bamshad (University of Washington School of Medicine, USA)
Agatino Battaglia (Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Italy)
Diana W. Bianchi (Tufts Medical Center, USA)
Stephen R. Braddock (Cardinal Glennon Children’s Hospital-St. Louis, USA)
David Chitayat (Mount Sinai Hospital, University of Toronto, Canada)
Cynthia J.R. Curry (Stanford University School of Medicine, USA)
William B. Dobyns (Seattle Children's Research Institute, USA)
Gene S. Fisch (NYU Colleges of Dentistry & Nursing, USA)
John M. Graham, Jr. (Cedars-Sinai Medical Center, USA)
Dorothy K. Grange (Washington University, USA)
Fiorella Gurrieri (Catholic University of the Sacred Heart, Italy)
Rudolf Happle (University Medical Center Freiburg, Germany)
Terry Hassold (Washington State University, USA)
Piranit Nik Kantaputra (Chiang Mai University, Thailand)
Hulya Kayserili (Istanbul University, Turkey)
Tomoki Kosho (Shinshu University School of Medicine, Japan)
Ian D. Krantz (The Children's Hospital of Philadelphia, USA)
Ralph S. Lachman (Cedars-Sinai Medical Center, USA)
Pablo Lapunzina (Hospital Universitario La Paz, Spain)
Angela E. Lin (Massachusetts General Hospital for Children, USA)
Rick A. Martin (Shire Human Genetic Therapies, USA)
Naomichi Matsumoto (Yokohama City University Graduate School of Medicine, Japan)
Julie McGaughran (Genetic Health Queensland, Australia)
Stefan Mundlos (Charité, Germany)
Jeffrey C. Murray (University of Iowa, USA)
Shubha R. Phadke (Sanjay Gandhi Post Graduate Institute of Medical Sciences, India)
Willie Reardon (Our Lady’s Hospital for Sick Children, Ireland)
Robert G. Resta (Swedish Cancer Institute, USA)
Stephen P. Robertson (Dunedin School of Medicine, University of Otago, New Zealand)
Nathaniel H. Robin (University of Alabama at Birmingham, USA)
Ravi Savarirayan (Murdoch Children’s Research Institute, Australia)
Albert A. Schinzel (University of Zurich, Switzerland)
Gary Shaw (Stanford University School of Medicine, USA)
Richard J.H. Smith (University of Iowa, USA)
Andrea Superti-Furga (University of Freiburg, Germany)
Karen Temple (University of Southampton, UK)
Michel Vekemans (Institut Imagine, France)
Alain Verloes (Robert Debre University Hospital, France)
Ishwar C. Verma (Sir Gangaram Hospital, India)
David H. Viskochil (University of Utah, USA)
Rosanna Weksberg (The Hospital for Sick Children, Canada)