With a high global visibility of over 70,000 visits a month, BMC Medical Genetics is an open access journal providing a high-quality peer-review service. We welcome submissions on genetic variation, gene expression, epigenetic regulation and pharmacogenetics in individuals, families and among populations in relation to human health and disease. This journal is part of the BMC series, a research community-focused collection publishing scientifically valid studies based on community-agreed standards of questioning, methods and analysis.
BMC Medical Genetics
Description
Identifiers
e-ISSN | 1471-2350 |
Publisher
BioMed Central
Additional information
Data set: Springer
Articles
BMC Medical Genetics > 2019 > 20 > 1 > 1-6
Background Cornelia de Lange syndrome (CdLS), a rare, multisystemic disorder, has been linked to genetic alterations in NIPBL, SMC1A, SMC3, HDAC8, and RAD21 genes. Approximately 60% of CdLS patients harbor various NIPBL variants. Genetic changes predicted to affect NIPBL gene splicing represent 15% of all NIPBL genetic abnormalities. Yet, only a few studies have investigated the molecular consequences...
BMC Medical Genetics > 2019 > 20 > 1 > 1-7
Background Klinefelter syndrome (KS) is characterized by the presence of at least one supernumerary X chromosome. KS typical symptoms include tall stature, gynecomastia, hypogonadism and azoospermia. KS patients show a higher risk of developing metabolic and cardiovascular diseases, inflammatory and autoimmune disorders, osteoporosis and cancer. Long non-coding RNA (lncRNA) growth arrest-specific...
BMC Medical Genetics > 2019 > 20 > 1 > 1-14
Background Tandem mass spectrometry (MS MS) and simple fluorometric assays are currently used in newborn screening programs to detect inborn errors of metabolism (IEM). The aim of the study was to evaluate the clinical utility of exome sequencing as a second tier screening method to assist clinical diagnosis of the newborn. Methods A novel PCR-exome amplification and re-sequencing (PEARS) assay...