相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Digenic Inheritance of a FOXC2 Mutation and Two PIEZO1 Mutations Underlies Congenital Lymphedema in a Multigeneration Family
Debbie J. Mustacich et al.
AMERICAN JOURNAL OF MEDICINE (2022)
A systematic review on papers that study on Single Nucleotide Polymorphism that affects coronavirus 2019 severity
Siyeon Suh et al.
BMC INFECTIOUS DISEASES (2022)
A preliminary genetic association study of GAD1 and GABAB receptor genes in patients with treatment-resistant schizophrenia
Atsuhiro Miyazawa et al.
MOLECULAR BIOLOGY REPORTS (2022)
Direct molecular evidence for both multicentric and monoclonal carcinogenesis followed by transdifferentiation from hepatocellular carcinoma to cholangiocarcinoma in a case of metachronous liver cancer
Sumie Ohni et al.
ONCOLOGY LETTERS (2022)
Whole Exome Sequence Study of Mild Cognitive Impairment in African and European Americans; the Atherosclerosis Risk in Communities‐Neurocognitive Study
Shamsed Mahmud et al.
Alzheimers & Dementia (2021)
Evaluation and improvement of the National Early Warning Score (NEWS2) for COVID-19: a multi-hospital study
Ewan Carr et al.
BMC MEDICINE (2021)
Extended phenotypes of PIEZO1-related lymphatic dysplasia caused by two novel compound heterozygous variants
Seungbok Lee et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2021)
Detection of PKD1 and PKD2 Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing
Zhengmao Zhang et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2021)
Loss-of-Function Piezo1 Mutations Display Altered Stability Driven by Ubiquitination and Proteasomal Degradation
Zijing Zhou et al.
FRONTIERS IN PHARMACOLOGY (2021)
Identification and Computational Analysis of Rare Variants of Known Hearing Loss Genes Present in Five Deaf Members of a Pakistani Kindred
Irum Badshah Saleem et al.
GENES (2021)
Basic Predictive Risk Factors for Cytokine Storms in COVID-19 Patients
Sergey G. Shcherbak et al.
FRONTIERS IN IMMUNOLOGY (2021)
Genetic Risk Prediction of COVID-19 Susceptibility and Severity in the Indian Population
P. Prakrithi et al.
FRONTIERS IN GENETICS (2021)
Genome-wide association study of hospitalized COVID-19 patients in the United Arab Emirates
Mira Mousa et al.
EBIOMEDICINE (2021)
De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy
Aristides Hadjinicolaou et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2021)
Mapping the human genetic architecture of COVID-19
Mari E. K. Niemi et al.
NATURE (2021)
LZTR1: A promising adaptor of the CUL3 family
Hui Zhang et al.
ONCOLOGY LETTERS (2021)
Genome-wide association study of COVID-19 severity among the Chinese population
Yuanfeng Li et al.
CELL DISCOVERY (2021)
Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19
Gundula Povysil et al.
JOURNAL OF CLINICAL INVESTIGATION (2021)
Sensitivity of Chest CT for COVID-19: Comparison to RT-PCR
Yicheng Fang et al.
RADIOLOGY (2020)
Gene Expression Profiling of Different Huh7 Variants Reveals Novel Hepatitis C Virus Host Factors
Christopher Daechert et al.
VIRUSES-BASEL (2020)
Phenome-wide functional dissection of pleiotropic effects highlights key molecular pathways for human complex traits
Anton E. Shikov et al.
SCIENTIFIC REPORTS (2020)
A Network-Based Bioinformatics Approach to Identify Molecular Biomarkers for Type 2 Diabetes that Are Linked to the Progression of Neurological Diseases
Md Habibur Rahman et al.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH (2020)
Artificial intelligence to codify lung CT in Covid-19 patients
Maria Paola Belfiore et al.
RADIOLOGIA MEDICA (2020)
Genomewide Association Study of Severe Covid-19 with Respiratory Failure
David Ellinghaus et al.
NEW ENGLAND JOURNAL OF MEDICINE (2020)
Analysis of the Spectrum ofACE2Variation Suggests a Possible Influence of Rare and Common Variants on Susceptibility to COVID-19 and Severity of Outcome
Anton E. Shikov et al.
FRONTIERS IN GENETICS (2020)
Statistical power in genome-wide association studies and quantitative trait locus mapping
Meiyue Wang et al.
HEREDITY (2019)
The National Early Warning Score 2 (NEWS2)
Gary B. Smith et al.
CLINICAL MEDICINE (2019)
The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy
Walaa Almutawa et al.
EBIOMEDICINE (2019)
Whole-exome sequencing provides insights into monogenic disease prevalence in Northwest Russia
Yury A. Barbitoff et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2019)
Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics
Gregory McInnes et al.
BIOINFORMATICS (2019)
Genetic effects on gene expression across human tissues
Francois Aguet et al.
NATURE (2017)
How Do J-Proteins Get Hsp70 to Do So Many Different Things?
Elizabeth A. Craig et al.
TRENDS IN BIOCHEMICAL SCIENCES (2017)
Functional mapping and annotation of genetic associations with FUMA
Kyoko Watanabe et al.
NATURE COMMUNICATIONS (2017)
The Ensembl Variant Effect Predictor
William McLaren et al.
GENOME BIOLOGY (2016)
Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort
Dhanya Kumaran et al.
BMC MEDICAL GENETICS (2014)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
`The HSP70 chaperone machinery: J proteins as drivers of functional specificity
Harm H. Kampinga et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2010)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
Effects of normalization on quantitative traits in association test
Liang Goh et al.
BMC BIOINFORMATICS (2009)
PLINK: A tool set for whole-genome association and population-based linkage analyses
Shaun Purcell et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Human THAP7 is a chromatin-associated, histone tail-binding protein that represses transcription via recruitment of HDAC3 and nuclear hormone receptor corepressor
T Macfarlan et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)
F Donaudy et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)