Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice.Topics of particular interest are:• Linking genetic variations to disease• Genome rearrangements and disease• Epigenetics and disease• The translation of genotype to phenotype• Genetics of complex disease• Management/intervention of genetic diseases• Novel therapies for genetic diseases• Developmental biology, as it relates to clinical genetics• Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
临床遗传学将研究与临床联系起来，为临床遗传学家提供对遗传疾病分子基础的理解。该杂志发表高质量的研究论文、短报告、评论和小型评论，将医学遗传学研究与临床实践联系起来。特别感兴趣的主题有：·将遗传变异与疾病联系起来·基因组重排与疾病·表观遗传学与疾病·基因型到表型的转化·复杂疾病的遗传学·遗传疾病的管理/干预·遗传疾病的新疗法·发育生物学，因为它与临床遗传学有关·关于遗传疾病患者或处于遗传疾病风险中的心理和行为方面的社会科学研究
Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease
来源期刊：Clinical GeneticsDOI：10.1111/cge.13382
Clinical, molecular genetics and therapeutic aspects of syndromic obesity
来源期刊：Clinical GeneticsDOI：10.1111/cge.13367
Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system
来源期刊：Clinical GeneticsDOI：10.1111/cge.13606
Clinician’s guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature
来源期刊：Clinical GeneticsDOI：10.1111/cge.13153
Multiple roles and regulatory mechanisms of the transcription factor GATA6 in human cancers
来源期刊：Clinical GeneticsDOI：10.1111/cge.13630
EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients
来源期刊：Clinical GeneticsDOI：10.1111/cge.13374
Association between glutathione S‐transferase gene M1 and T1 polymorphisms and chronic obstructive pulmonary disease risk: A meta‐analysis
来源期刊：Clinical GeneticsDOI：10.1111/cge.13373
Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome
来源期刊：Clinical GeneticsDOI：10.1111/cge.13521
Causative and common PHOX2B variants define a broad phenotypic spectrum
来源期刊：Clinical GeneticsDOI：10.1111/cge.13633
Difficulties and challenges in the development of precision medicine
来源期刊：Clinical GeneticsDOI：10.1111/cge.13511
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non‐syndromic rod‐cone dystrophy
来源期刊：Clinical GeneticsDOI：10.1111/cge.13453
Assessment of pre‐implantation genetic testing for embryo aneuploidies: A SWOT analysis
来源期刊：Clinical GeneticsDOI：10.1111/cge.13510
Molecular defects in thyroid dysgenesis
来源期刊：Clinical GeneticsDOI：10.1111/cge.13627
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies
来源期刊：Clinical GeneticsDOI：10.1111/cge.13640
A novel homozygous CFAP65 mutation in humans causes male infertility with multiple morphological abnormalities of the sperm flagella
来源期刊：Clinical GeneticsDOI：10.1111/cge.13644
ADA2 deficiency due to a novel structural variation in 22q11.1
来源期刊：Clinical GeneticsDOI：10.1111/cge.13518
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition
来源期刊：Clinical GeneticsDOI：10.1111/cge.13600
Constitutional mosaicism in RASA1‐related capillary malformation‐arteriovenous malformation
来源期刊：Clinical GeneticsDOI：10.1111/cge.13499
Clinicogenetic lessons from 370 patients with autosomal recessive limb‐girdle muscular dystrophy
来源期刊：Clinical GeneticsDOI：10.1111/cge.13597
Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity
来源期刊：Clinical GeneticsDOI：10.1111/cge.13605
MPV17 mutations in juvenile‐ and adult‐onset axonal sensorimotor polyneuropathy
来源期刊：Clinical GeneticsDOI：10.1111/cge.13462
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5
来源期刊：Clinical GeneticsDOI：10.1111/cge.13460
Uptake of polygenic risk information among women at increased risk of breast cancer
来源期刊：Clinical GeneticsDOI：10.1111/cge.13687
Genome‐wide association study identifies new susceptibility loci for diabetic nephropathy in Korean patients with type 2 diabetes mellitus
来源期刊：Clinical GeneticsDOI：10.1111/cge.13538
Meckel syndrome: Clinical and mutation profile in six fetuses
来源期刊：Clinical GeneticsDOI：10.1111/cge.13623
Whole‐exome sequencing revealed a nonsense mutation in STKLD1 causing non‐syndromic pre‐axial polydactyly type A affecting only upper limb
来源期刊：Clinical GeneticsDOI：10.1111/cge.13547
Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability
来源期刊：Clinical GeneticsDOI：10.1111/cge.13603
Growth factor and receptor malfunctions associated with human genetic deafness
来源期刊：Clinical GeneticsDOI：10.1111/cge.13641
Sorting nexin 27 (SNX27) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalities
来源期刊：Clinical GeneticsDOI：10.1111/cge.13675
Phenotype‐to‐genotype approach reveals head‐circumference‐associated genes in an autism spectrum disorder cohort
来源期刊：Clinical GeneticsDOI：10.1111/cge.13665
Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia
来源期刊：Clinical GeneticsDOI：10.1111/cge.13661
Familial pancreatic adenocarcinoma: A retrospective analysis of germline genetic testing in a French multicentre cohort
来源期刊：Clinical GeneticsDOI：10.1111/cge.13629
Crisponi/cold‐induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts
来源期刊：Clinical GeneticsDOI：10.1111/cge.13639
Bioinformatic detection of copy number variation in HNF4A causing maturity onset diabetes of the young
来源期刊：Clinical GeneticsDOI：10.1111/cge.13599
Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements
来源期刊：Clinical GeneticsDOI：10.1111/cge.13473
Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in HNRNPH2
来源期刊：Clinical GeneticsDOI：10.1111/cge.13580
Development of a measure of genome sequencing knowledge for young people: The kids‐KOGS
来源期刊：Clinical GeneticsDOI：10.1111/cge.13607
A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia
来源期刊：Clinical GeneticsDOI：10.1111/cge.13530
Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement
来源期刊：Clinical GeneticsDOI：10.1111/cge.13634
Who should access germline genome sequencing? A mixed methods study of patient views
来源期刊：Clinical GeneticsDOI：10.1111/cge.13664
Uncertainty, hope, and coping efficacy among mothers of children with Duchenne/Becker muscular dystrophy
来源期刊：Clinical GeneticsDOI：10.1111/cge.13528
Variants of the ectodysplasin A1 receptor gene underlying homozygous cases of autosomal recessive hypohidrotic ectodermal dysplasia
来源期刊：Clinical GeneticsDOI：10.1111/cge.13503
Clinical and genetic findings in a cohort of Chinese patients with autosomal recessive spinocerebellar ataxia
来源期刊：Clinical GeneticsDOI：10.1111/cge.13669
Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss
来源期刊：Clinical GeneticsDOI：10.1111/cge.13626
The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease
来源期刊：Clinical GeneticsDOI：10.1111/cge.13635
Novel Arg128Ala variant in Catechol‐O‐methyltransferase gene influence persistent pain
来源期刊：Clinical GeneticsDOI：10.1111/cge.13650
VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features
来源期刊：Clinical GeneticsDOI：10.1111/cge.13690
Novel CDH3 variants in Brazilian families with hypotrichosis and juvenile macular dystrophy revealed by exome sequencing
来源期刊：Clinical GeneticsDOI：10.1111/cge.13659
Evaluating empowerment in genetic counseling using patient‐reported outcomes
来源期刊：Clinical GeneticsDOI：10.1111/cge.13646
Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules
来源期刊：Clinical GeneticsDOI：10.1111/cge.13649
