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Journal of Medical Genetics
- Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature
- Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics
- Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population
- BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities
- BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities
- Enrichment of an Ehlers-Danlos-like phenotype in women with the FMR1 premutation: a pilot study
- CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders
- The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing
- Everolimus for the treatment of neuropsychological deficits in tuberous sclerosis complex: findings from the TRON multicentre randomised controlled trial
- Single-cell transcriptomics identifies neural fate disruption and glial reprogramming caused by RARS2 deficiency
- Unified genetic risk score for prostate cancer enables improved risk stratification for clinical decision-making
- Potential advantage of clinical exome sequencing in BRCA1/2-negative families: a retrospective study of a cohort of 500 patients at a high-risk for hereditary cancers
- Integrated D4Z4 structural, epigenetic and exome-based evaluation of facioscapulohumeral muscular dystrophy in a tertiary referral cohort from Türkiye
- Potential advantage of clinical exome sequencing in BRCA1/2-negative families: a retrospective study of a cohort of 500 patients at a high-risk for hereditary cancers
- Integrated D4Z4 structural, epigenetic and exome-based evaluation of facioscapulohumeral muscular dystrophy in a tertiary referral cohort from Türkiye
- Diagnostic inversion in prenatal genomics: counselling, governance and the expanded role of clinical genetics
- Diagnostic inversion in prenatal genomics: counselling, governance and the expanded role of clinical genetics
- Correction: UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants
- Correction: UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants
- Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network
- Frequent FBN2 variants in pectus excavatum highlight underlying phenotypic variability
- Frequent FBN2 variants in pectus excavatum highlight underlying phenotypic variability
- Longest surviving patient with a homozygous splice-altering EGFR pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy
- Longest surviving patient with a homozygous splice-altering EGFR pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy
- Functional characterisation and pathological significance of variants of MEF2C promoter in tetralogy of Fallot
- Functional characterisation and pathological significance of variants of MEF2C promoter in tetralogy of Fallot
- Identification of biallelic loss-of-function PREP variants in three individuals with syndromic intellectual disability
- Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry
- Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry
- Interpreting TP53 variants: somatic mosaicism and ERCC6L2-driven clonal evolution
- 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
- PRS-BC313 integration for tailored breast cancer prevention in female patients and their healthy relatives
- Identification of a novel intergenic EPCAM-MSH2 deletion causing EPCAM-associated Lynch syndrome by long-read nanopore sequencing
- 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
- 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
- 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
- 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
- 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
- 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
- Best practice recommendations for bioinformatics approaches applied to high-throughput sequencing for rare disease and cancer diagnosis within the UK National Health Service
- 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
