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。To NMD or Not To NMD: Nonsense-Mediated mRNA Decay in Cancer and Other Genetic Diseases
Fran Supek et al.
TRENDS IN GENETICS (2021)
ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
David T. Miller et al.
GENETICS IN MEDICINE (2021)
Breast Cancer Patient Prognosis Is Determined by the Interplay between TP53 Mutation and Alternative Transcript Expression: Insights from TP53 Long Amplicon Digital PCR Assays
Annette Lasham et al.
CANCERS (2021)
recount3: summaries and queries for large-scale RNA-seq expression and splicing
Christopher Wilks et al.
GENOME BIOLOGY (2021)
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants
Loredana Bury et al.
HUMAN MUTATION (2020)
Genomic basis for RNA alterations in cancer
Claudia Calabrese et al.
NATURE (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Discovery of driver non-coding splice-site-creating mutations in cancer
Song Cao et al.
NATURE COMMUNICATIONS (2020)
DPYD*6 plays an important role in fluoropyrimidine toxicity in addition to DPYD*2A and c.2846A>T: a comprehensive analysis in 1254 patients
Marzia Del Re et al.
PHARMACOGENOMICS JOURNAL (2019)
The impact of nonsense-mediated mRNA decay on genetic disease, gene editing and cancer immunotherapy
Rik G. H. Lindeboom et al.
NATURE GENETICS (2019)
Predicting Splicing from Primary Sequence with Deep Learning
Kishore Jaganathan et al.
CELL (2019)
MMSplice: modular modeling improves the predictions of genetic variant effects on splicing
Jun Cheng et al.
GENOME BIOLOGY (2019)
Annotation-free quantification of RNA splicing using LeafCutter
Yang I. Li et al.
NATURE GENETICS (2018)
ClinVar: improving access to variant interpretations and supporting evidence
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2018)
The Expanding Landscape of Alternative Splicing Variation in Human Populations
Eddie Park et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
A comprehensive characterization of cis-acting splicing-associated variants in human cancer
Yuichi Shiraishi et al.
GENOME RESEARCH (2018)
Integrating rare genetic variants into pharmacogenetic drug response predictions
Magnus Ingelman-Sundberg et al.
HUMAN GENOMICS (2018)
The COSMIC Cancer Gene Census: describing genetic dysfunction across all human cancers
Zbyslaw Sondka et al.
NATURE REVIEWS CANCER (2018)
Reproducible RNA-seq analysis using recount2
Leonardo Collado-Torres et al.
NATURE BIOTECHNOLOGY (2017)
Insertional mutagenesis identifies drivers of a novel oncogenic pathway in invasive lobular breast carcinoma
Sjors M. Kas et al.
NATURE GENETICS (2017)
IRFinder: assessing the impact of intron retention on mammalian gene expression
Robert Middleton et al.
GENOME BIOLOGY (2017)
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease
Dong-chuan Guo et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
Lessons from non-canonical splicing
Christopher R. Sibley et al.
NATURE REVIEWS GENETICS (2016)
Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps
Anne Marie Jelsig et al.
SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY (2016)
A new view of transcriptome complexity and regulation through the lens of local splicing variations
Jorge Vaquero-Garcia et al.
ELIFE (2016)
TP53 drives invasion through expression of its Δ133p53β variant
Gilles Gadea et al.
ELIFE (2016)
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome
Matthew B. Yurgelun et al.
GASTROENTEROLOGY (2015)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Intron retention is a widespread mechanism of tumor-suppressor inactivation
Hyunchul Jung- et al.
NATURE GENETICS (2015)
ClinGen - The Clinical Genome Resource
Heidi L. Rehm et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Integrative genomics identifies YY1AP1 as an oncogenic driver in EpCAM+ AFP+ hepatocellular carcinoma
X. Zhao et al.
ONCOGENE (2015)
Frequency of Mutations in Individuals With Breast Cancer Referred for BRCA1 and BRCA2 Testing Using Next-Generation Sequencing With a 25-Gene Panel
Nadine Tung et al.
CANCER (2015)
Dystrophic epidermolysis bullosa: a review
Satoru Shinkuma
CLINICAL COSMETIC AND INVESTIGATIONAL DERMATOLOGY (2015)
Comprehensive molecular profiling of lung adenocarcinoma
Eric A. Collisson et al.
NATURE (2014)
Realizing the promise of cancer predisposition genes
Nazneen Rahman
NATURE (2014)
Direct in Vivo RNAi Screen Unveils Myosin IIa as a Tumor Suppressor of Squamous Cell Carcinomas
Daniel Schramek et al.
SCIENCE (2014)
The Pharmacology of the Cytochrome P450 Epoxygenase/Soluble Epoxide Hydrolase Axis in the Vasculature and Cardiovascular Disease
Ingrid Fleming
PHARMACOLOGICAL REVIEWS (2014)
STAR: ultrafast universal RNA-seq aligner
Alexander Dobin et al.
BIOINFORMATICS (2013)
Transcriptome and genome sequencing uncovers functional variation in humans
Tuuli Lappalainen et al.
NATURE (2013)
The Genotype-Tissue Expression (GTEx) project
John Lonsdale et al.
NATURE GENETICS (2013)
The Sequence Read Archive
Rasko Leinonen et al.
NUCLEIC ACIDS RESEARCH (2011)
Advances in the understanding of MYH9 disorders
Shinji Kunishima et al.
CURRENT OPINION IN HEMATOLOGY (2010)
Splicing in disease: disruption of the splicing code and the decoding machinery
Guey-Shin Wang et al.
NATURE REVIEWS GENETICS (2007)
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta
Wayne A. Cabral et al.
NATURE GENETICS (2007)
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
G Yeo et al.
JOURNAL OF COMPUTATIONAL BIOLOGY (2004)
Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil
ABP van Kuilenburg
EUROPEAN JOURNAL OF CANCER (2004)