Journal of Medical Genetics Learning Hub

In collaboration with BMJ Learning, Journal of Medical Genetics offers high-quality continuing medical education for doctors and other healthcare professionals. Every month we publish a series of multiple choice questions to accompany a recently published article. Our modules are accredited by several organisations. You are able to download or print certificates for modules you complete as evidence of CME/CPD or for use in an appraisal.

To complete a module click on the ‘Take the Test’ link on the online version of the article. All users will need to complete a one-time registration on BMJ Learning and subsequently log in on every visit. Personal subscribers should initially login to JMG before navigating to our articles and institutional subscribers can authenticate with Athens to be recognised as an institutional customer.

Meet the Team

Dr Amy Frost Education Development Lead National Genomics Education Programme, NHS England

orcid.org/0000-0003-3683-2928

Dr Heidré Bezuidenhout Clinical geneticist, St George’s Hospital Trust NHS London, UK

Dr Siva Sithambaram Consultant Clinical Geneticist, Liverpool Women's Hospital Liverpool, UK

orcid.org/0000-0001-5432-7752

Modules

All JMG MCQ modules are listed on BMJ Learning. You can also find a list of our modules by title below: Extent of investigation and management of cases of ‘unexplained’ mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus Take the test >> ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favorable outcomes Take the test >> Diagnosis and Management in Rubinstein-Taybi Syndrome: First International Consensus Statement Take the test >> Variant reclassification and clinical implications Take the test >> Carriers of autosomal recessive conditions: are they really ‘unaffected?’ Take the test >> Exploring the association between congenital vertebral malformations and neural tube defects Take the test >> Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases Take the test >> Integrating RNA-Seq into genome sequencing workflow enhance the analysis of structural variants causing neurodevelopmental disorders Take the test >> Congenital mirror movements are associated with defective polymerisation of RAD51 Take the test >> The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum Take the test >> Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort Take the test >> Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2 Take the test >> Histones: coming of age in Mendelian genetic disorders Take the test >> Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines Take the test >> Psychopathology in mothers of children with pathogenic Copy Number Variants Take the test >> Detection of cryptic balanced chromosomal rearrangements using high- Banked resolution optical genome mapping Take the test >> Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases Take the test >> The role of single cell genomics in human genetics Take the test >> Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing Take the test >> Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease Take the test >> Disorders and roles of tsRNA, snoRNA, snRNA and piRNA in cancer Take the test >> Improving the clinical interpretation of missense variants in Xlinked genes using structural analysis Take the test >> SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum Take the test >> A Comprehensive Epithelial Tubo-Ovarian Cancer Risk Prediction Model Incorporating Genetic and Epidemiological Risk Factors Take the test >> SOX10: twenty years of phenotypic plurality and current understanding of its developmental function Take the test >> Gene fusions in tumourigenesis with particular reference to ovarian cancer Take the test >> Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects. Take the test >> Mosaic De novo SNRPN Gene Variant Associated with Prader-Willi Syndrome. Take the test >>