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Genetics in Medicine Open is a peer-reviewed journal published by Elsevier, covering Genomics and Rare Diseases, BRCA gene mutations in cancer, Genomic variations and chromosomal abnormalities.
| Publisher | Elsevier |
|---|---|
| Reference style | Numbered (Elsevier) Numbered — [1], [2] in the text [1] A. Smith, B. Jones, C. Lee, A representative article title, Genetics in Medicine Open 12 (2023) 45–58.
Formats any DOI in Genetics in Medicine Open style. No sign-up. |
| Publishes research in | Genomics and Rare Diseases BRCA gene mutations in cancer Genomic variations and chromosomal abnormalities Metabolism and Genetic Disorders Prenatal Screening and Diagnostics |
| ISSN | 2949-7744 |
| Citation impact (2-yr) | 0.23 |
| h-index | 12 |
| i10-index | 22 |
| Total citations | 1,192 |
| Open access | Yes |
| Top institutions publishing here | Baylor College of Medicine |
| 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.
Purpose: The extent of comorbidity and misdiagnosis had been unclear for patients with hypermobile Ehlers-Danlos Syndrome (hEDS), a hereditary connective tissue disorder. The objectives of the study were to (1) describe the prevalence of alternative diagnoses that these patients have received, (2) assess their endorsement and rejection of these diagnoses, and (3) characterize their experience…
Purpose: The profession of genetic counselors has existed for over 50 years. This article provides an update on the global state of the genetic counseling (GC) profession in 2022 and 2023. Methods: We used a survey approach to collect data from individuals who were identified as being leaders in GC practice and/or education around the…
A novel syndrome was suspected in individuals sharing short stature, microcephaly, distinctive facial features, and congenital anomalies. We enrolled 6 patients in an institutional review board approved study and evaluated medical history, findings, facial photographs, and test results across this original cohort. Four additional cases with similar findings were contributed by clinicians from outside institutions,…
Purpose The aim of the study was to evaluate the results of a large-scale BRCA1/2 carrier screening program among Ashkenazi Jewish (AJ) women. Methods We performed a cross-sectional study of women who were eligible for BRCA1/2 screening program. Women who self-reported as complete or partial AJ were screened for 14 pathogenic variants in BRCA1/2 genes,…
Purpose: Recognizing rare diseases (RDs) and initiating appropriate investigation and referral is critical for timely diagnosis. Unfortunately, patients with RDs experience significant diagnostic delays, potentially leading to inappropriate or harmful testing or treatment and disease progression. Methods: A 14-question survey assessing clinician knowledge, experience, and educational needs in RDs was emailed to US and European…
