Edited By: Anne Slavotinek and Benjamin D. Solomon
Journal list menu
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.
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.
.png)
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.
Articles
An adult patient with Tatton–Brown–Rahman syndrome caused by a novel DNMT3A variant and axonal polyneuropathy
- 1 December 2023
SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi–Goutières syndrome
- 1 December 2023
Refining the activities of genetic assistants: Development of task statements applicable across practice settings
- 1 December 2023
Time to diagnosis in rapid exome/genome sequencing in the clinical inpatient setting
- 28 November 2023
Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene
- 21 November 2023
The following is a list of the most cited articles based on citations published in the last three years, according to CrossRef.
Nosology and classification of genetic skeletal disorders: 2019 revision
- 2393-2419
- 21 October 2019
Birth incidence and prevalence of tumor-prone syndromes: Estimates from a UK family genetic register service
- 327-332
- 15 January 2010
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu‐Osler‐Weber syndrome)
- 66-67
- 17 March 2000
Ehlers‐Danlos syndromes: Revised nosology, Villefranche, 1997
- 31-37
- 6 January 1999
PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation
- 287-295
- 31 December 2014
Recent issues
Latest news
Tools
More from this journal
- Winners and Nominees for the 2023 John M. Opitz Young Investigator Award
- 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
IssueVolume 193, Issue 3Artificial Intelligence in Clinical Genetics
September 2023Rebekah L. Waikel, Benjamin D. Solomon
