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Journal of Medical Genetics
- Identification of biallelic loss-of-function PREP variants in three individuals with syndromic intellectual disability
- Interpreting TP53 variants: somatic mosaicism and ERCC6L2-driven clonal evolution
- PRS-BC313 integration for tailored breast cancer prevention in female patients and their healthy relatives
- Review of estimates of birth incidence and population prevalence over time and between countries of the rare neurodevelopmental condition Prader-Willi syndrome
- Identification of a novel intergenic EPCAM-MSH2 deletion causing EPCAM-associated Lynch syndrome by long-read nanopore sequencing
- Biallelic pathogenic variants in FLNB are associated with paediatric steroid-resistant nephrotic syndrome via podocyte cytoskeletal dysfunction
- Decreasing diffuse gastric cancer risk in individuals with germline CDH1 pathogenic variants. What about prophylactic total gastrectomy?
- Location matters: topography of germline CEBPA variants predicts variable outcomes in familial acute myeloid leukaemia–a rare disease perspective
- Identification of Lynch syndrome among people newly diagnosed with endometrial cancer: a prospective audit
- Diagnosis complexity of dentinogenesis imperfecta involving DSPP genetic variants
- Colonoscopy surveillance in Lynch syndrome: what it prevents and what it does not
- MGRN1 is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans
- Comprehensive evidence for the pathogenicity of the BRCA2 c.7847C>T (p.Ser2616Phe) variant specific to the Japanese population
- End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes
- CDK4 and CDK6 variants in patients with primary microcephaly lead to cell cycle defects and mitochondria-induced apoptosis
- Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome
- Comprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variants
- Comparison of clinical characteristics between patients with single mutation and co-mutation in hereditary renal cancer: a retrospective analysis of 115 patients with von Hippel-Lindau syndrome
- Diagnostic genetic testing indications and findings in type II, IX and XI collagenopathies
- Unmasking NF1 mosaicism: optical genome mapping identifies a novel t(15;17) translocation in melanocytes
- Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages
- Biallelic variants in DNAH10 are associated with skeletal developmental abnormalities and ciliary dysfunction
- Biallelic variants in DNAH10 are associated with skeletal developmental abnormalities and ciliary dysfunction
- Best practice recommendations for bioinformatics approaches applied to high-throughput sequencing for rare disease and cancer diagnosis within the UK National Health Service
- Uterine serous carcinoma and germline genetic testing: patterns of referral, completion and pathogenic variant detection
- Best practice recommendations for bioinformatics approaches applied to high-throughput sequencing for rare disease and cancer diagnosis within the UK National Health Service
- Uterine serous carcinoma and germline genetic testing: patterns of referral, completion and pathogenic variant detection
- Pathogenic mobile element insertion in the MEN1 gene mimicking a deletion in MLPA: characterisation by long-read sequencing
- Pathogenic mobile element insertion in the MEN1 gene mimicking a deletion in MLPA: characterisation by long-read sequencing
- Long-read genome sequencing increases diagnostic yield in a short-read sequencing unsolved developmental epileptic encephalopathy (DEE) cohort
- Long-read genome sequencing increases diagnostic yield in a short-read sequencing unsolved developmental epileptic encephalopathy (DEE) cohort
- VHL gene fragment analysis: large inversion detection in Alu region for clinical applications
- VHL gene fragment analysis: large inversion detection in Alu region for clinical applications
- Rare missense variants in MYO7A and OTOP2 genes in a South Korean Menieres disease cohort
- Rare missense variants in MYO7A and OTOP2 genes in a South Korean Menieres disease cohort
- Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies
- Test the grandfather! Incidental in-frame DMD deletions in three asymptomatic families
- Evaluating the efficiency of nanopore adaptive sampling sequencing in detecting balanced translocation
- Mosaic variegated aneuploidy as a novel feature in patients with Mulibrey nanism and TRIM37 variants
- Clinically significant DNA variation from the GENCOV and HostSeq COVID-19 genome sequencing studies
- Later age of natural menopause among women with the pathogenic CHEK2 c.1100delC variant: a validation study
- Frequency of familial hypercholesterolaemia-causing genetic variants in the 100 000 Genomes Project cohort: whole genome sequencing analyses of 77 260 participants
- Reclassification of variants of uncertain significance in type I collagen genes: a national reference laboratory experience
- Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies
- Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies
- Clinical characteristics and prognosis of SDHD pathogenic variant carriers: a systematic review and meta-analysis
- Clinical characteristics and prognosis of SDHD pathogenic variant carriers: a systematic review and meta-analysis
- Retraction: multiple articles in volume 56, issue 1 (2019)
- Retraction: multiple articles in volume 56, issue 1 (2019)
- Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntingtons disease
- Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntingtons disease
- ACAN-related disorder, antenatal presentation and phenotypic variability: a case series
- ACAN-related disorder, antenatal presentation and phenotypic variability: a case series
- Expanded carrier screening in a Southwestern Chinese population indicates East Asian specific low-frequency pathogenic variants account for nearly half of the at-risk couple rate
- Expanded carrier screening in a Southwestern Chinese population indicates East Asian specific low-frequency pathogenic variants account for nearly half of the at-risk couple rate
- Damaging missense variants in innate immunity genes are associated with earlier age of breast cancer onset in BRCA1 185delAG carriers
- Damaging missense variants in innate immunity genes are associated with earlier age of breast cancer onset in BRCA1 185delAG carriers
- ATM c.7374_7375insAlu is a French-Canadian founder pathogenic variant associated with predisposition to pancreatic and breast cancer
- ATM c.7374_7375insAlu is a French-Canadian founder pathogenic variant associated with predisposition to pancreatic and breast cancer
- The SINEs were there: identification of a pathogenic Alu insertion in a patient with DICER1-related tumour predisposition
- Molecular sleuthing: unmasking hidden lymphomas through plasma DNA sequencing
- The SINEs were there: identification of a pathogenic Alu insertion in a patient with DICER1-related tumour predisposition
- Molecular sleuthing: unmasking hidden lymphomas through plasma DNA sequencing
- Long-read sequencing enables trio-assisted phasing of de novo variants in the imprinted gene MAGEL2
- Long-read sequencing enables trio-assisted phasing of de novo variants in the imprinted gene MAGEL2
- Perspectives of adolescents and young adults with advanced cancer on complete genomic analysis in standard oncology care
- Perspectives of adolescents and young adults with advanced cancer on complete genomic analysis in standard oncology care
- Comprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variants
- Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome
- Colonoscopy surveillance in Lynch syndrome: what it prevents and what it does not
- CDK4 and CDK6 variants in patients with primary microcephaly lead to cell cycle defects and mitochondria-induced apoptosis
- Comparison of clinical characteristics between patients with single mutation and co-mutation in hereditary renal cancer: a retrospective analysis of 115 patients with von Hippel-Lindau syndrome
- Comprehensive evidence for the pathogenicity of the BRCA2 c.7847C>T (p.Ser2616Phe) variant specific to the Japanese population
- Diagnostic genetic testing indications and findings in type II, IX and XI collagenopathies
- Diagnosis complexity of dentinogenesis imperfecta involving DSPP genetic variants
- End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes
- MGRN1 is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans
- Clinically significant DNA variation from the GENCOV and HostSeq COVID-19 genome sequencing studies
- Evaluating the efficiency of nanopore adaptive sampling sequencing in detecting balanced translocation
- Test the grandfather! Incidental in-frame DMD deletions in three asymptomatic families
- Mosaic variegated aneuploidy as a novel feature in patients with Mulibrey nanism and TRIM37 variants
- Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies
- Later age of natural menopause among women with the pathogenic CHEK2 c.1100delC variant: a validation study
- Reclassification of variants of uncertain significance in type I collagen genes: a national reference laboratory experience
- Frequency of familial hypercholesterolaemia-causing genetic variants in the 100 000 Genomes Project cohort: whole genome sequencing analyses of 77 260 participants
- Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension
- MITF (p.E318K) and renal cell carcinoma: current evidence does not support an effect
- How do clinician and parent-reported data differ? An analysis of similarity and difference in the datasets from a cross-syndrome genetics cohort study (GenROC)
- Clinical manifestations of chromosome 19p13.11 duplication
- Biallelic TTBK1 variant causes a severe syndromic neurodevelopmental disorder: clinical and genetic insights from two siblings
- Novel in-frame variant in DES (p.Glu353dup) causes myofibrillar myopathy: clinical, in silico and functional studies
- Targeting autophagy in Duchenne muscular dystrophy: mechanistic insights and emerging therapeutic strategies
- Refining the phenotypic spectrum of PNKP-related microcephaly: a study of 27 new patients
- Catatonia and regression in an autism spectrum disorder patient harbouring a BRSK2 frameshift mutation
- Obstetric history of women with m.3243A>G: an observational cohort study
- Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion
- Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous CTNND1 mutations in FEVR
- Evidence for pathogenicity of BRCA2 c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance
- Sequencing every UK newborn: why cold storage economics should shape policy
- Challenges associated with disclosing results from whole genome sequencing to diagnose paediatric rare diseases: analysis of parent-clinician interactions
