Journal of Medical Genetics
- Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans
- Recessive MECR pathogenic variants cause an LHON-like optic neuropathy
- Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition
- Clinical, genetic and biochemical signatures of RBP4-related ocular malformations
- Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes
- Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer
- Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders
- Experience of reassessing FBN1 variants of uncertain significance by gene-specific guidelines
- Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases
- Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients
- Genotype-phenotype associations in Alström syndrome: a systematic review and meta-analysis
- Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
- Carriers of autosomal recessive conditions: are they really ‘unaffected?
- Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study
- Co-design of patient information leaflets for germline predisposition to cancer: recommendations for clinical practice from the UK Cancer Genetics Group (UKCGG), Cancer Research UK (CRUK) funded CanGene-CanVar Programme and the Association of Genetic Nurse Counsellors (AGNC)
- Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature
- Further characterisation of ARX-related disorders in females due to inherited or de novo variants
- Evidence of a genetic background predisposing to complex regional pain syndrome type 1
- Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency
- Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases
- Association between genetic polymorphisms and risk of adolescent idiopathic scoliosis in case-control studies: a systematic review
- TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy
- Recurrent BRCA2 exon 3 deletion in Assyrian families
- Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations
- Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of ‘gene-negative individuals recruited to the 100 000 Genomes Project
- Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer
- Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunction
- SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice
