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Mutational heterogeneity in cancer and the search for new cancer-associated genes
Michael S. Lawrence et al.
NATURE (2013)
Signatures of mutational processes in human cancer
Ludmil B. Alexandrov et al.
NATURE (2013)
Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing
Garrett M. Frampton et al.
NATURE BIOTECHNOLOGY (2013)
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
Claire Palles et al.
NATURE GENETICS (2013)
Turning of COGS moves forward findings for hormonally mediated cancers
Lori C. Sakoda et al.
NATURE GENETICS (2013)
Large-scale genotyping identifies 41 new loci associated with breast cancer risk
Kyriaki Michailidou et al.
NATURE GENETICS (2013)
Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness
Jennifer J. Lentz et al.
NATURE MEDICINE (2013)
Genomic and Epigenomic Landscapes of Adult De Novo Acute Myeloid Leukemia
Timothy J. Ley et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
Exome Sequencing of Germline DNA from Non-BRCA1/2 Familial Breast Cancer Cases Selected on the Basis of aCGH Tumor Profiling
Florentine S. Hilbers et al.
PLOS ONE (2013)
Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles
Francisco Javier Gracia-Aznarez et al.
PLOS ONE (2013)
Molecular Typing of Lung Adenocarcinoma on Cytological Samples Using a Multigene Next Generation Sequencing Panel
Aldo Scarpa et al.
PLOS ONE (2013)
Circulating tumor cells versus tumor-derived cell-free DNA: rivals or partners in cancer care in the era of single-cell analysis?
Evelyn Kidess et al.
GENOME MEDICINE (2013)
Fusion genes in solid tumors: an emerging target for cancer diagnosis and treatment
Brittany C. Parker et al.
CHINESE JOURNAL OF CANCER (2013)
Sequencing quality assessment tools to enable data-driven informatics for high throughput genomics
Richard M. Leggett et al.
Frontiers in Genetics (2013)
Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes
Jennifer J. Johnston et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Deep-sequencing approach for minimal residual disease detection in acute lymphoblastic leukemia
Malek Faham et al.
BLOOD (2012)
Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer
Katie Snape et al.
BREAST CANCER RESEARCH AND TREATMENT (2012)
Mutational Processes Molding the Genomes of 21 Breast Cancers
Serena Nik-Zainal et al.
CELL (2012)
Mapping the Hallmarks of Lung Adenocarcinoma with Massively Parallel Sequencing
Marcin Imielinski et al.
CELL (2012)
The Origin and Evolution of Mutations in Acute Myeloid Leukemia
John S. Welch et al.
CELL (2012)
Pharmacogenomics Knowledge for Personalized Medicine
M. Whirl-Carrillo et al.
CLINICAL PHARMACOLOGY & THERAPEUTICS (2012)
Points to consider in the clinical application of genomic sequencing
GENETICS IN MEDICINE (2012)
Whole-exome sequencing combined with functional genomics reveals novel candidate driver cancer genes in endometrial cancer
Han Liang et al.
GENOME RESEARCH (2012)
Identification of Individuals at Risk for Lynch Syndrome Using Targeted Evaluations and Genetic Testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer Joint Practice Guideline
Scott M. Weissman et al.
JOURNAL OF GENETIC COUNSELING (2012)
Spliceosome-Mediated Trans-Splicing: The Therapeutic Cut and Paste
Verena Wally et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2012)
ColoSeq Provides Comprehensive Lynch and Polyposis Syndrome Mutational Analysis Using Massively Parallel Sequencing
Colin C. Pritchard et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2012)
Influence of Genetic Polymorphisms on the Effect of High-and Standard-Dose Clopidogrel After Percutaneous Coronary Intervention The GIFT (Genotype Information and Functional Testing) Study
Matthew J. Price et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2012)
Recognition, signaling, and repair of DNA double-strand breaks produced by ionizing radiation in mammalian cells: The molecular choreography
Larry H. Thompson
MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH (2012)
The landscape of cancer genes and mutational processes in breast cancer
Philip J. Stephens et al.
NATURE (2012)
Differential oestrogen receptor binding is associated with clinical outcome in breast cancer
Caryn S. Ross-Innes et al.
NATURE (2012)
Systematic identification of genomic markers of drug sensitivity in cancer cells
Mathew J. Garnett et al.
NATURE (2012)
Comprehensive molecular characterization of human colon and rectal cancer
Donna M. Muzny et al.
NATURE (2012)
Comprehensive genomic characterization of squamous cell lung cancers
Peter S. Hammerman et al.
NATURE (2012)
Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1
Emma Jaeger et al.
NATURE GENETICS (2012)
Genome-wide association analysis identifies three new breast cancer susceptibility loci
Maya Ghoussaini et al.
NATURE GENETICS (2012)
Accurate identification of human Alu and non-Alu RNA editing sites
Gokul Ramaswami et al.
NATURE METHODS (2012)
Noninvasive Identification and Monitoring of Cancer Mutations by Targeted Deep Sequencing of Plasma DNA
Tim Forshew et al.
SCIENCE TRANSLATIONAL MEDICINE (2012)
Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles
Ella R. Thompson et al.
PLOS GENETICS (2012)
Genetic modifiers of cancer risk for BRCA1 and BRCA2 mutation carriers
R. L. Milne et al.
ANNALS OF ONCOLOGY (2011)
FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: no evidence for association with risk for breast cancer
Daniel J. Park et al.
BREAST CANCER RESEARCH AND TREATMENT (2011)
Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing
Rita Dias Brandao et al.
BREAST CANCER RESEARCH AND TREATMENT (2011)
Genetic polymorphisms and breast cancer risk: evidence from meta-analyses, pooled analyses, and genome-wide association studies
Sihua Peng et al.
BREAST CANCER RESEARCH AND TREATMENT (2011)
Massive Genomic Rearrangement Acquired in a Single Catastrophic Event during Cancer Development
Philip J. Stephens et al.
CELL (2011)
Epigenetics in Alternative Pre-mRNA Splicing
Reini F. Luco et al.
CELL (2011)
Pharmacogenetics: From Bench to Byte-An Update of Guidelines
J. J. Swen et al.
CLINICAL PHARMACOLOGY & THERAPEUTICS (2011)
LOVD v.2.0: The Next Generation in Gene Variant Databases
Ivo F. A. C. Fokkema et al.
HUMAN MUTATION (2011)
Hybrid Capture and Next-Generation Sequencing Identify Viral Integration Sites from Formalin-Fixed, Paraffin-Embedded Tissue
Eric J. Duncavage et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2011)
Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence
Ben Zhang et al.
LANCET ONCOLOGY (2011)
Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
Yimin Hua et al.
NATURE (2011)
Integrated genomic analyses of ovarian carcinoma
D. Bell et al.
NATURE (2011)
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma
Inaki Comino-Mendez et al.
NATURE GENETICS (2011)
Germline mutations in RAD51D confer susceptibility to ovarian cancer
Chey Loveday et al.
NATURE GENETICS (2011)
Somatic SF3B1 Mutation in Myelodysplasia with Ring Sideroblasts
E. Papaemmanuil et al.
NEW ENGLAND JOURNAL OF MEDICINE (2011)
Dihydropyrimidine dehydrogenase gene as a major predictor of severe 5-fluorouracil toxicity
Ursula Amstutz et al.
PHARMACOGENOMICS (2011)
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing
Tom Walsh et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
High Cancer Risk in Peutz-Jeghers Syndrome: A Systematic Review and Surveillance Recommendations
M. G. F. van Lier et al.
AMERICAN JOURNAL OF GASTROENTEROLOGY (2010)
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients
Andre B. P. van Kuilenburg et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2010)
Evaluation of Oligonucleotide Sequence Capture Arrays and Comparison of Next-Generation Sequencing Platforms for Use in Molecular Diagnostics
Nicole Hoppman-Chaney et al.
CLINICAL CHEMISTRY (2010)
Common genetic variants and cancer risk in Mendelian cancer syndromes
Antonis C. Antoniou et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2010)
Clinical assessment incorporating a personal genome
Euan A. Ashley et al.
LANCET (2010)
A small-cell lung cancer genome with complex signatures of tobacco exposure
Erin D. Pleasance et al.
NATURE (2010)
Signatures of mutation and selection in the cancer genome
Graham R. Bignell et al.
NATURE (2010)
The patterns and dynamics of genomic instability in metastatic pancreatic cancer
Peter J. Campbell et al.
NATURE (2010)
International network of cancer genome projects
Thomas J. Hudson et al.
NATURE (2010)
COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer
Simon A. Forbes et al.
NUCLEIC ACIDS RESEARCH (2010)
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
Tom Walsh et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells
Pamela Renwick et al.
REPRODUCTIVE BIOMEDICINE ONLINE (2010)
Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays
Radoje Drmanac et al.
SCIENCE (2010)
Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study
Virginie Caux-Moncoutier et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
Beyond Li Fraumeni Syndrome: Clinical Characteristics of Families With p53 Germline Mutations
Kelly D. Gonzalez et al.
JOURNAL OF CLINICAL ONCOLOGY (2009)
Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution
Sohrab P. Shah et al.
NATURE (2009)
Finding the missing heritability of complex diseases
Teri A. Manolio et al.
NATURE (2009)
Complex landscapes of somatic rearrangement in human breast cancer genomes
Philip J. Stephens et al.
NATURE (2009)
Recurring Mutations Found by Sequencing an Acute Myeloid Leukemia Genome
Elaine R. Mardis et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Exomic Sequencing Identifies PALB2 as a Pancreatic Cancer Susceptibility Gene
Sian Jones et al.
SCIENCE (2009)
Profiling the HeLa S3 transcriptome using randomly primed cDNA and massively parallel short-read sequencing
Ryan D. Morin et al.
BIOTECHNIQUES (2008)
Unclassified variants identified in BRCA1 exon 11:: Consequences on splicing
Olga Anczukow et al.
GENES CHROMOSOMES & CANCER (2008)
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome
Timothy J. Ley et al.
NATURE (2008)
Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer
Richard S. Houlston et al.
NATURE GENETICS (2008)
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing
Peter J. Campbell et al.
NATURE GENETICS (2008)
Stem cell transcriptome profiling via massive-scale mRNA sequencing
Nicole Cloonan et al.
NATURE METHODS (2008)
Mapping and quantifying mammalian transcriptomes by RNA-Seq
Ali Mortazavi et al.
NATURE METHODS (2008)
Subclonal phylogenetic structures in cancer revealed by ultra-deep sequencing
Peter J. Campbell et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
A global view of gene activity and alternative splicing by deep sequencing of the human transcriptome
Marc Sultan et al.
SCIENCE (2008)
Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene
C. Bonnet et al.
JOURNAL OF MEDICAL GENETICS (2008)
Breast cancer risk among male BRCA1 and BRCA2 mutation carriers
Yu Chuan Tai et al.
JOURNAL OF THE NATIONAL CANCER INSTITUTE (2007)
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
Nazneen Rahman et al.
NATURE GENETICS (2007)
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles
Anthony Renwick et al.
NATURE GENETICS (2006)
Frequency and spectrum of cancers in the Peutz-Jeghers syndrome
Nicholas Hearle et al.
CLINICAL CANCER RESEARCH (2006)
Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy
H Farmer et al.
NATURE (2005)
Familial Melanoma, Pancreatic Cancer and Germline CDKN2A Mutations
Alisa M. Goldstein
HUMAN MUTATION (2004)
NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient
P Colapietro et al.
HUMAN GENETICS (2003)
CDKN2A point mutations D153spl(c.457G > T) and IVS2+1G > T result in aberrant splice products affecting both p16INK4a and p14ARF
JL Rutter et al.
ONCOGENE (2003)
BRCA2 T2722R is a deleterious allele that causes exon skipping
JD Fackenthal et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
The human genome browser at UCSC
WJ Kent et al.
GENOME RESEARCH (2002)
First application of preimplantation genetic diagnosis to neurofibromatosis type 2 (NF2)
PM Abou-Sleiman et al.
PRENATAL DIAGNOSIS (2002)
Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: Search for correlation between phenotype and the functional domains of the MEN1 protein
V Wautot et al.
HUMAN MUTATION (2002)
A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees
M Harland et al.
HUMAN MOLECULAR GENETICS (2001)
Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating β-catenin/TCF signalling
WG Liu et al.
NATURE GENETICS (2000)
Multiplex PCR of polymorphic markers flanking the CFTR gene;: a general approach for preimplantation genetic diagnosis of cystic fibrosis
JCFM Dreesen et al.
MOLECULAR HUMAN REPRODUCTION (2000)
Identification of Rad51 alteration in patients with bilateral breast cancer
M Kato et al.
JOURNAL OF HUMAN GENETICS (2000)