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Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)
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Large scale genotype‐ and phenotype‐driven machine learning in Von Hippel‐Lindau disease
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The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects
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Altered closed state inactivation gating in Kv4.2 channels results in developmental and epileptic encephalopathies in human patients
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The human ATP‐binding cassette (ABC) transporter superfamily
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Front Cover, Volume 43, Issue 9
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Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform
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Benchmarking of univariate pleiotropy detection methods applied to epilepsy
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De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
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Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management
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MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants
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Predictive functional assay‐based classification of PMS2 variants in Lynch syndrome
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DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variants
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Three novel FHL1 variants cause a mild phenotype of Emery‐Dreifuss muscular dystrophy
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Partial loss‐of‐function variant in neuregulin 1 identified in family with heritable peripheral neuropathy
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The transmission of human mitochondrial DNA in four‐generation pedigrees
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De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder
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Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest
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Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development
Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development
Abstract Transporter-dependent steroid hormone uptake into target cells was demonstrated in genetically engineered mice an...
Functionally impaired RPL8 variants associated with Diamond‐Blackfan anemia and a Diamond‐Blackfan anemia‐like phenotype
Functionally impaired RPL8 variants associated with Diamond‐Blackfan anemia and a Diamond‐Blackfan anemia‐like phenotype
ABSTRACT Diamond-Blackfan anemia is a rare genetic disease characterized by erythroblastopenia and a large spectrum of dev...
Harmonizing variant classification for return of results in the All of Us Research Program
Harmonizing variant classification for return of results in the All of Us Research Program
Abstract The All of Us Research Program (AoURP) is a historic effort to accelerate research and improve healthcare by gene...
ROHMM – A Flexible Hidden Markov Model Framework To Detect Runs of Homozygosity From Genotyping Data
ROHMM – A Flexible Hidden Markov Model Framework To Detect Runs of Homozygosity From Genotyping Data
Abstract Runs of long homozygous stretches (ROH) are considered to be the result of consanguinity and usually contain rece...
Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers
Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers
Abstract It is now widely accepted that aberrant splicing of constitutive exons is often caused by mutations affecting cis...
Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis
Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis
AbstractThe recent discovery of TRPV6 as a pancreatitis susceptibility gene served to identify a novel mechanism of chroni...
A decade of RAD51C and RAD51D germline variants in cancer
A decade of RAD51C and RAD51D germline variants in cancer
Abstract Defects in DNA repair genes have been extensively associated to cancer susceptibility. Germline pathogenic varian...
Novel biallelic mutations in SLC26A8 cause severe asthenozoospermia in humans owing to midpiece defects: Insights into a putative dominant genetic disease
Novel biallelic mutations in SLC26A8 cause severe asthenozoospermia in humans owing to midpiece defects: Insights into a putative dominant genetic disease
AbstractTo investigate the genetic cause of male infertility characterized by severe asthenozoospermia, two unrelated infe...
EFEMP1 rare variants cause familial juvenile‐onset open angle glaucoma
EFEMP1 rare variants cause familial juvenile‐onset open angle glaucoma
Abstract Juvenile open angle glaucoma (JOAG) is a severe type of glaucoma with onset before age 40 and dominant inheritanc...
Generation and mutational analysis of a transgenic mouse model of human SRY
Generation and mutational analysis of a transgenic mouse model of human SRY
Abstract SRY is the Y-chromosomal gene that determines male sex development in humans and most other mammals. After three ...
Distinct sequence features underlie microdeletions and gross deletions in the human genome
Distinct sequence features underlie microdeletions and gross deletions in the human genome
Abstract Microdeletions and gross deletions are important causes (~20%) of human inherited disease and their genomic locat...
Variant calling: considerations, practices, and developments
Variant calling: considerations, practices, and developments
Abstract The success of many clinical, association, or population genetics studies critically relies on properly performed...
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