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Molecular Genetics & Genomic Medicine is a peer-reviewed journal published by Wiley, covering Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Connective tissue disorders research.
| 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." Molecular Genetics & Genomic Medicine 12 (3): 45–58.
Formats any DOI in Molecular Genetics & Genomic Medicine style. No sign-up. |
| Publishes research in | Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Connective tissue disorders research BRCA gene mutations in cancer Genetics and Neurodevelopmental Disorders |
| ISSN | 2324-9269 |
| Citation impact (2-yr) | 1.4 |
| h-index | 58 |
| i10-index | 1,149 |
| Total citations | 33,184 |
| Article processing charge | $2,574 |
| Open access | Yes |
| Top institutions publishing here | Shanghai Jiao Tong University |
| 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.
BACKGROUND: Thalassemia is an inherited hematological disorder categorized by a decrease or absence of one or more of the globin chains synthesis. Beta-thalassemia is caused by one or more mutations in the beta-globin gene. The absence or reduced amount of beta-globin chains causes ineffective erythropoiesis which leads to anemia. METHODS: Beta-thalassemia has been further divided…
We report the frequency, positive rate, and type of mutations in 14 genes (PMP22, GJB1, MPZ, MFN2, SH3TC2, GDAP1, NEFL, LITAF, GARS, HSPB1, FIG4, EGR2, PRX, and RAB7A) associated with Charcot-Marie-Tooth disease (CMT) in a cohort of 17,880 individuals referred to a commercial genetic testing laboratory. Deidentified results from sequencing assays and multiplex ligation-dependent probe…
Evidence for genetic factors in persistent developmental stuttering has accumulated over the past four decades, and the genes that underlie this disorder are starting to be identified. The genes identified to date, all point to deficits in intracellular trafficking in this disorder. Stuttering is a common speech disorder characterized by word or syllable repetitions or…
BACKGROUND: Epileptic encephalopathies are a devastating group of neurological conditions in which etiological diagnosis can alter management and clinical outcome. Exome sequencing and gene panel testing can improve diagnostic yield but there is no cost-effectiveness analysis of their use or consensus on how to best integrate these tests into clinical diagnostic pathways. METHODS: We conducted…
BACKGROUND: The p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac variant of Fabry disease. METHODS: To expand on the scarce phenotype data, we analyzed natural history data from 125 p.N215S patients (66 females, 59 males) enrolled in the Fabry Registry (NCT00196742) and compared it with data from 401 patients (237 females, 164…
