jmg.bmj16d
Six at Sixty. ‘Have you tested for 22q?’
In 1997, the Journal of Medical Genetics published our paper on the spectrum of clinical features associated with interstitial chromosome 22q11 deletions. This copy number variation is associated with ...
jmg.bmj1d
Germline E-cadherin mutations in familial lobular breast cancer
Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada Results: A novel germline CDH1 truncating mutation in the extracellular portion of ...
jmg.bmj3d
Apoptosis and cancer: mutations within caspase genes
The inactivation of programmed cell death has profound effects not only on the development but also on the overall integrity of multicellular organisms. Beside developmental abnormalities, it may lead ...
jmg.bmj3d
Genetic aetiology of early infant deaths in a neonatal intensive care unit
Correspondence to Professor Wenhao Zhou, Department of Neonatology, Children's Hospital of Fudan University, Shanghai 201102, China; zhouwenhao{at}fudan.edu.cn Background Congenital anomalies are the ...
jmg.bmj3d
Reduced penetrance of gene variants causing amyotrophic lateral sclerosis
Background Amyotrophic lateral sclerosis overlaps aetiologically and genetically with frontotemporal dementia and occurs in both familial and apparently sporadic forms. The most commonly implicated ...
jmg.bmj3d
Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes
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 ...
jmg.bmj3d
Pathology update to the Manchester Scoring System based on testing in over 4000 families
Correspondence to Professor D Gareth Evans, Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, St Mary’s Hospital, University of Manchester, Manchester M13 9WL, UK; ...
jmg.bmj3d
Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex
7 International Research Fellow of Japan Society for the Promotion of Science (Postdoctoral Fellowships for Research in Japan (Standard)), Tokyo, Japan Correspondence to Dr Shinji Saitoh, Department ...
jmg.bmj3d
A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype
1 Centre for Community Child Health, Royal Children’s Hospital, Parkville, Victoria, Australia 2 Murdoch Children’s Research Institute, Royal Children’s Hospital, Parkville, Victoria, Australia ...
jmg.bmj10d
Online First
Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth ...
jmg.bmj3d
A multilayered approach to the analysis of genetic data from individuals with suspected albinism
1 Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK 2 European Molecular Biology ...