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Journal of Medical Genetics
- 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
- 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
- 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
- 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
- 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
- Intragenic loss-of-function variants in transcription factors MAZ, FOXP1 and SIN3B in colobomatous microphthalmia
- Association for Clinical Genomic Science (ACGS) guidelines for the classification of oncogenicity of somatic variants in cancer: recommendations by the UK somatic variant interpretation group (SVIG-UK)
- ACTH-secreting atypical carcinoid lung tumour expanding the Lynch syndrome spectrum
- Mixed functional consequences of the N651D GRIA3 variant: a case of early-onset developmental and epileptic encephalopathy with parkinsonism
- PURA protein mislocalisation in the nucleus: mechanistic basis for transcriptional dysregulation and DNA unwinding deficits in a model of the p.L148Wfs*77 PURA variant
- Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement
- Long-term efficacy of migalastat in females with Fabry disease
- Inefficiencies in precision medicine: can genetic counsellors (GC) be the solution? The experience from the first GC-led cancer genetics service in Asia
- Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants
- Multiple early onset atypical cutaneous fibrous histiocytomas in multilocus inherited neoplasia allele syndrome involving TP53 and FLCN genes
- APC I1307K and clinical management: insights from UK Biobank association analysis of colorectal and other cancer risks in Ashkenazi and non-Ashkenazi whites
- Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists
- Resolving structural variations missed by short-read sequencing uncovers their pathogenicity
- Development of a functional assay for the characterisation of SMAD4 variants from the French haemorrhagic hereditary telangiectasia cohort
- Expert endoscopic surveillance in CDH1 pathogenic variant carriers seems safe, even after positive (pT1a) biopsies
- Advancing genotype-phenotype analysis through 3D facial morphometry: insights from Cri-du-Chat syndrome
- Validation of the pathology-adjusted Manchester scoring system in over 10 000 assessments of cases with breast and/or ovarian cancer
- Genetic and embryonic transcriptome analyses reveal the molecular and developmental basis of Mayer-Rokitansky-Küster-Hauser syndrome
- Specific considerations for MUTYH carrier testing in individuals of Gujarati heritage: UK cancer genetics group recommendations
- No association of Alzheimer disease with the joint effect of HFE and TF in the mid-western Amish
- Cardiovascular risk in achondroplasia: a systematic review
- Analysis of muscle and blood RNA samples from patients with myotonic dystrophy type 1 reveals the presence of new mis-splicing biomarkers of disease severity
- Exploring the spectrum of central nervous system tumours in carriers of germline POT1 variants
- Dental agenesis as a novel phenotypical feature associated with hereditary diffuse gastric cancer in China
- Heterozygous alterations of GTF2I at the Williams-Beuren syndromes locus cause a neurodevelopmental disorder
- ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature
- Calibration and refinement of ACMG/AMP criteria for variant classification with BayesQuantify
- Multicentre audit reviewing reporting and management of patients with incidentally identified structural aberrations involving high actionability cancer susceptibility genes
- Recontact and follow-up for individuals with germline pathogenic variants in hereditary breast and ovarian cancer susceptibility genes: a UK Cancer Genetics Group consensus meeting
