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