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Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists
IntroductionApproximately 2%–4% of pregnancies present with major fetal anomalies, which can be isolated or occur with oth...
Variable skeletal phenotypes associated with biallelic variants in PRKG2
Variable skeletal phenotypes associated with biallelic variants in PRKG2
The 100 000 Genomes Project (100KGP) is a UK-wide initiative that has a goal of using whole genome sequencing (WGS) to ide...
Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients
Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients
BackgroundVon Hippel-Lindau (VHL) disease is an autosomal dominant disease caused by germline mutation of tumour suppresso...
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency
IntroductionGlycosaminoglycans (GAGs) are essential components of the connective tissue. They consist of disaccharide unit...
Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer
Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer
IntroductionFamilial adenomatous polyposis (FAP) is an autosomal dominant cancer predisposition syndrome caused by pathoge...
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
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A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene
IntroductionCystic fibrosis (CF (OMIM 219700)) is characterised by a triad of chronic obstructive pulmonary disease, exocr...
Ribosomal protein S6 kinase beta-1 gene variants cause hypertrophic cardiomyopathy
Ribosomal protein S6 kinase beta-1 gene variants cause hypertrophic cardiomyopathy
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Multimodal bioinformatic analyses of the neurodegenerative disease-associated TECPR2 gene reveal its diverse roles
Multimodal bioinformatic analyses of the neurodegenerative disease-associated TECPR2 gene reveal its diverse roles
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A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon
A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon
Pathogenic variants in the MME gene cause dominant and recessive late-onset axonal hereditary neuropathy, that is, axonal ...
The role of single-cell genomics in human genetics
The role of single-cell genomics in human genetics
Here, we describe two prospective applications in human genetics, which take advantage of the latest developments and prom...
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population
BackgroundAmyotrophic lateral sclerosis (ALS) is one of the most common incurable neurodegenerative diseases that primaril...
Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest
Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest
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Genotype-phenotype correlation in arrhythmogenic right ventricular cardiomyopathy--risk of arrhythmias and heart failure
Genotype-phenotype correlation in arrhythmogenic right ventricular cardiomyopathy--risk of arrhythmias and heart failure
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SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
We detected heterozygous truncating and canonical splice site SUFU variants in 22 patients: 14 from 10 families (1.9%) in ...
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes
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New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements
New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements
IntroductionAuriculocondylar syndrome (ARCND) (OMIM #602483, #614669 and #615706), also referred to as ‘question mark ear ...
Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex
Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is a genetic syndrome due to mutations in either TSC1 or TSC2, leading to the development...
Practice guidelines for BRCA1/2 tumour testing in ovarian cancer
Practice guidelines for BRCA1/2 tumour testing in ovarian cancer
In Canadian women, OC is the second most frequent gynaecological cancer and the fifth leading cause of cancer deaths.4 The...
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project
IntroductionCiliopathies represent a group of inherited genetic disorders that arise as a result of defects in the primary...
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victorias Undiagnosed Diseases Program
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victorias Undiagnosed Diseases Program
IntroductionCollaborative diagnostic research initiatives are instrumental in the systematic approach to the diagnosis of ...