Journal of Medical Genetics Learning Hub

Dr Amy Frost Genomics educational resources developer London, UK 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: 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 >>