Six at Sixty. Commentary on identification of the
In 2005, the genetic aetiology of autism was considered elusive. Occasionally individuals with overgrowth disorders and hamartomas including Bannayan-Riley-Ruvalcaba and Proteus or Proteus-like and/or cancer such as Cowden syndrome, an autosomal dominant disorder with a high risk of breast, thyroid and endometrial cancer, were noted to have neuro-behavioural …
Homepage | Journal of Medical Genetics
Jan 14, 2025 · Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments.Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to …
JMG in 2025 | Journal of Medical Genetics
We begin 2025 by looking back at the contribution of Charis Eng, a distinguished cancer geneticist and former North American editor of the Journal of Medical Genetics ( JMG ). In this issue, readers will find an obituary written by former coeditors and colleagues.1 In addition, the second invited commentary in our Six at Sixty series2 focuses on a paper coauthored by …
Rare disease genomic testing in the UK and Ireland: promoting …
Purpose and scope The aim of this position statement is to provide recommendations regarding the delivery of genomic testing to patients with rare disease in the UK and Ireland. The statement has been developed to facilitate timely and equitable access to genomic testing with reporting of results within commissioned turnaround times. Methods of statement development A 1-day …
Novel variants and genotype-phenotype correlation in a …
Background GlcNAc2-epimerase (GNE) myopathy is a rare autosomal recessive disorder caused by pathogenic variants in the GNE gene, which is essential for the sialic acid biosynthesis pathway. Objective This multi-centre study aimed to delineate the clinical phenotype and GNE variant spectrum in Chinese patients, enhancing our understanding of the genetic diversity and …
Authors - Journal of Medical Genetics
Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including: germline cancer genetics; clinical manifestations of genetic disorders; applications of molecular genetics to medical practice and …
Clinical and mutational signatures of CRB1-associated …
Results The mean age of CRB1 cohort was 27.33±14.63 years. Results showed that yellowish geographic macular degeneration (66.67%), small white or yellow dots (65.6%), hyperopia (62.5%), abnormally laminated retina (61.61%), epiretinal membrane (60.6%) and nummular pigment deposits (50%) were the most common signatures in patients with CRB1 mutations. . …
About - Journal of Medical Genetics
Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments.
Long-read sequencing for detection and subtyping of Prader-Willi …
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are imprinting disorders caused by genetic or epigenetic aberrations of 15q11.2-q13. Their clinical testing is often multitiered; diagnostic testing begins with methylation-specific multiplex ligation-dependent probe amplification or methylation-sensitive PCR and then proceeds to molecular subtyping to …
Predicting the likelihood of BRCA1/2 germline pathogenic variants …
Dec 11, 2024 · Methods A logistic regression model to predict the BRCA1/2 carrier probability, named PKCBRCA, was established and validated based on 10 167 unselected Chinese patients with breast cancer treated in Peking University Cancer Hospital between October 2003 and August 2020. All patients were tested for BRCA1/2 germline variants. The discrimination and …