Edited By: Anne Slavotinek and Benjamin D. Solomon
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The American Journal of Medical Genetics - Part A (AJMG) is your primary source for all biological and medical aspects of inherited disorders and birth defects research. Readers will find ground-breaking insight on phenotype and molecular analysis of known disorders and new syndromes.
We have a broad readership of physicians, medical geneticists and associated professionals. Other topics include fetal genetic pathology and teratology, genetic drift, historical aspects of medical genetics, relevant advances in biotech, and ethical, legal and social issues.
Read cutting-edge news and commentary in each monthly issue of AJMG Part A
CME Credit for Reviewers
The American Journal of Medical Genetics Part A now offers Continuing Medical Education (CME) credit for peer review of manuscripts submitted to the journal.
Honoring the Life and Legacy of Dr. John M. Opitz
All of us in Medical Genetics were deeply saddened by learning of the passing of our friend, teacher, colleague, and mentor, Dr. John Opitz.
John died peacefully at home with his wife Susan and daughter Emma by his bedside on August 31, 2023.
John M. Opitz, MD founded the American Journal of Medical Genetics in 1976 with Alan R Liss, Publisher, and the inaugural issue appeared in 1977. John Wiley & Sons purchased AJMG soon after.
Dr. Opitz joined the faculty of the University of Utah in 1997 after many contributions to the field of medical genetics at the University of Wisconsin and the Medical Genetics program in Montana. During the 6 decades of his career, he received many honors and honorary degrees and is widely regarded as one of the pioneers in medical genetics.
Notwithstanding, John was most proud of his work in educating all of us on the role of evolution in the practice of medicine. For the full article, click here.
Articles
Registry‐Based Frequency of Molecularly Confirmed Osteogenesis Imperfecta in a Swiss Cohort of Individuals With Connective Tissue Disorders
- 17 February 2025
Beyond the Extra X and Y Chromosome: The Contribution of Familial Risk for Psychopathology to the Neurodevelopmental Phenotype of Children With Sex Chromosome Trisomy
- 17 February 2025
Self‐Reported Access to Specialized Genetics Providers Among Families of Young Children With Birth Defects in Texas
- 17 February 2025
Research Priorities of Individuals and Families With Sex Chromosome Aneuploidies
- 15 February 2025
The following is a list of the most cited articles based on citations published in the last three years, according to CrossRef.
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu‐Osler‐Weber syndrome)
- 66-67
- 17 March 2000
Birth incidence and prevalence of tumor-prone syndromes: Estimates from a UK family genetic register service†
- 327-332
- 15 January 2010
The burden of rare diseases
- 885-892
- 18 March 2019
Nosology and classification of genetic skeletal disorders: 2019 revision
- 2393-2419
- 21 October 2019
Recent issues
Volume 197, Issue 3March 2025
Volume 197, Issue 2February 2025
Volume 197, Issue 1January 2025
Volume 194, Issue 12December 2024
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More from this journal
- Winners and Nominees for the 2024 John M. Opitz Young Investigator Award
- Virtual Issue: Cancer in Genetic Syndromes
- Virtual Issue: Robinow Article Series
- Virtual Issue: Sex Chromosome Disorders
- Virtual Issue: Case Reports in Diverse Populations
- Virtual Issue: Elements of Morphology: Standard Terminology
- All Virtual Issues
- CME Credit for Reviewers
- Nosology of genetic skeletal disorders: 2023 revision
- Self-Archiving Policy
- Getting Your Scientific Paper Written & Published When English Is Your Second Language
Related Titles
Volume 198, Issue 2March 2025
Volume 117, Issue 2February 2025
