SCI时时刷

search
Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples
Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Cleara...
Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation
Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Cleara...
Genotype and sleep independently predict mental health in Rett syndrome: an observational study
Genotype and sleep independently predict mental health in Rett syndrome: an observational study
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Cleara...
Early breast cancer risk detection: a novel framework leveraging polygenic risk scores and machine learning
Early breast cancer risk detection: a novel framework leveraging polygenic risk scores and machine learning
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Cleara...
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
IntroductionLimb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders w...
Detection of pathogenic variants in breast cancer susceptibility genes in bilateral breast cancer
Detection of pathogenic variants in breast cancer susceptibility genes in bilateral breast cancer
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Cleara...
Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension
Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension
WHAT IS ALREADY KNOWN ON THIS TOPICWHAT THIS STUDY ADDSWe show for the first time that biallelic loss of function variants...
Germline pathogenic SMARCA4 variants in neuroblastoma
Germline pathogenic SMARCA4 variants in neuroblastoma
Heterozygous germline pathogenic variants (GPVs) in SMARCA4, the gene encoding the ATP-dependent chromatin remodelling pro...
ARF1-related disorder: phenotypic and molecular spectrum
ARF1-related disorder: phenotypic and molecular spectrum
WHAT IS ALREADY KNOWN ON THIS TOPIC ARF1-related disorder has been previously described as a syndromic intellectual disabi...
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype
The TRAPP (TRAfficking Protein Particle) complexes are evolutionarily conserved tethering factors involved in the intracel...
Phenotypical differences of C9ORF72 gene-positive and negative amyotrophic lateral sclerosis: a comparative case series
Phenotypical differences of C9ORF72 gene-positive and negative amyotrophic lateral sclerosis: a comparative case series
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Cleara...
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C
WHAT IS ALREADY KNOWN ON THIS TOPICCraniofacial abnormalities in patients harbouring biallelic pathogenic variants in gene...
GOLM1: expanding our understanding of melanoma susceptibility
GOLM1: expanding our understanding of melanoma susceptibility
Altered GOLM1 expression is associated with tumorigenesis, but only one GOLM1 variant (p.S307L), has ever been reported in...
Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation
Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation
NF2-related schwannomatosis is an autosomal dominant tumour predisposition condition that causes multiple benign tumours o...
Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort
Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort
IntroductionWilms tumour (WT), or nephroblastoma, is a renal tumour of young children (median age: 3.5 years), accounting ...
Effect of Migalastat on cArdiac InvOlvement in FabRry DiseAse: MAIORA study
Effect of Migalastat on cArdiac InvOlvement in FabRry DiseAse: MAIORA study
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Cleara...
Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations
Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations
IntroductionInherited retinal diseases (IRDs) are a group of retinal disorders caused by gene mutations and may lead to vi...
Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2
Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2
IntroductionEmergent research points to the importance of the innate immune system and microglia in the pathogenesis of ne...
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
IntroductionJoubert syndrome (JS) is a rare, mostly recessively inherited neurodevelopmental ciliopathy whose diagnostic h...
Parental mosaicism detection and preimplantation genetic testing in families with multiple transmissions of de novo mutations
Parental mosaicism detection and preimplantation genetic testing in families with multiple transmissions of de novo mutations
IntroductionDe novo mutations (DNMs) are defined as genetic variants present in offspring but not detectable in either par...
PSMD3 gene mutations cause pathological myopia
PSMD3 gene mutations cause pathological myopia
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Cleara...
A model for the return and referral of all clinically significant secondary findings of genomic sequencing
A model for the return and referral of all clinically significant secondary findings of genomic sequencing
Secondary findings (SFs) identified through genomic sequencing (GS) can offer a wide range of health benefits to patients....
Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers
Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Cleara...
Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome
Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome
IntroductionDNA genetic testing for germline variants in tumour suppressor genes can identify individuals with hereditary ...