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American Journal of Medical Genetics Part A is a peer-reviewed journal published by Wiley, covering Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Prenatal Screening and Diagnostics.
| Publisher | Wiley |
|---|---|
| Reference style | Author–year (Chicago) Author–year — (Smith, 2023) in the text Smith, Ada, Ben Jones, and Cara Lee. 2023. "A Representative Article Title." American Journal of Medical Genetics Part A 12 (3): 45–58.
Formats any DOI in American Journal of Medical Genetics Part A style. No sign-up. |
| Publishes research in | Genomic variations and chromosomal abnormalities Genetics and Neurodevelopmental Disorders Prenatal Screening and Diagnostics Genomics and Rare Diseases Congenital heart defects research |
| ISSN | 1552-4825 |
| Citation impact (2-yr) | 1.28 |
| h-index | 162 |
| i10-index | 7,045 |
| Total citations | 310,630 |
| Top institutions publishing here | Baylor College of Medicine |
| Journal website | onlinelibrary.wiley.com |
| You get | A submission-ready PDF and the editable LaTeX source — ready to submit. |
Citations each year’s papers have accumulated so far — the most recent years are still building up.
Autosomal dominantly inherited tumor-prone syndromes are a substantial health problem and are amenable to epidemiologic studies by combining cancer surveillance registries with a genetic register (GR)-based approach. Knowledge of the frequency of the conditions provides a basis for appropriate health-resources allocations. GRs for five tumor-prone syndromes were established in the Manchester region of North West…
Recently, the genetic heterogeneity in osteogenesis imperfecta (OI), proposed in 1979 by Sillence et al., has been confirmed with molecular genetic studies. At present, 17 genetic causes of OI and closely related disorders have been identified and it is expected that more will follow. Unlike most reviews that have been published in the last decade…
Genetic disorders involving the skeletal system arise through disturbances in the complex processes of skeletal development, growth and homeostasis and remain a diagnostic challenge because of their variety. The Nosology and Classification of Genetic Skeletal Disorders provides an overview of recognized diagnostic entities and groups them by clinical and radiographic features and molecular pathogenesis. The…
In 1995, a consensus statement was published for the purpose of summarizing the salient clinical features of Angelman syndrome (AS) to assist the clinician in making a timely and accurate diagnosis. Considering the scientific advances made in the last 10 years, it is necessary now to review the validity of the original consensus criteria. As…
Aicardi-Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 patients from 299 families with mutations in these seven genes. Most patients conformed to one of two fairly stereotyped clinical profiles; either exhibiting an in utero disease-onset (74 patients; 22.8%…
