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List of works by Kristian Cibulskis

A homozygous missense mutation inHERC2associated with global developmental delay and autism spectrum disorder ⬇️

scientific article published on December 1, 2012

A landscape of driver mutations in melanoma

scientific article

A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers

scientific article

A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries

scientific article

Absolute quantification of somatic DNA alterations in human cancer

scientific article

Clonal evolution in patients with chronic lymphocytic leukaemia developing resistance to BTK inhibition

scientific article published on 20 May 2016

Colon cancer-derived oncogenic EGFR G724S mutant identified by whole genome sequence analysis is dependent on asymmetric dimerization and sensitive to cetuximab

scientific article

Comprehensive analysis of cancer-associated somatic mutations in class I HLA genes

scientific article published on 15 September 2015

ContEst: estimating cross-contamination of human samples in next-generation sequencing data ⬇️

scientific article published on July 29, 2011

Drug-sensitive FGFR2 mutations in endometrial carcinoma

scholarly article

Evolution and impact of subclonal mutations in chronic lymphocytic leukemia

scientific article published on February 2013

Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity

scientific article published on 24 March 2013

Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer

scientific article

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

scientific article

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases ⬇️

scientific article published on January 17, 2012

Genetic and clonal dissection of murine small cell lung carcinoma progression by genome sequencing

scientific article

Genomic Characterization of Brain Metastases Reveals Branched Evolution and Potential Therapeutic Targets

scientific article published on 26 September 2015

Genomic sequencing of colorectal adenocarcinomas identifies a recurrent VTI1A-TCF7L2 fusion

scientific article published on 04 September 2011

Initial genome sequencing and analysis of multiple myeloma

scientific article

Integrative analysis of the melanoma transcriptome

scientific article

Integrative and comparative genomic analysis of lung squamous cell carcinomas in East Asian patients

scientific article

Landscape of genomic alterations in cervical carcinomas

scientific article

MAP kinase pathway alterations in BRAF-mutant melanoma patients with acquired resistance to combined RAF/MEK inhibition

scientific article

Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing

scientific article

Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations

scientific article (publication date: 22 July 2012)

Melanoma genome sequencing reveals frequent PREX2 mutations

scientific article

Mutational heterogeneity in cancer and the search for new cancer-associated genes

scientific article

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

scientific article

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

scientific article

Prognostically relevant gene signatures of high-grade serous ovarian carcinoma

scientific article

Punctuated evolution of prostate cancer genomes

scientific article published on April 2013

RNF43 is frequently mutated in colorectal and endometrial cancers

scientific article

SF3B1 and other novel cancer genes in chronic lymphocytic leukemia

scientific article

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

scientific article

Sequence analysis of mutations and translocations across breast cancer subtypes

scientific article

Somatic mutations affect key pathways in lung adenocarcinoma

scientific article

Sporadic hemangioblastomas are characterized by cryptic VHL inactivation

scientific article

Subtype-specific genomic alterations define new targets for soft-tissue sarcoma therapy

scientific article

Systematic genomic and translational efficiency studies of uveal melanoma

scientific article

Systematic identification of personal tumor-specific neoantigens in chronic lymphocytic leukemia

scientific article

Targeted exon sequencing by in-solution hybrid selection

scientific article

Temporal dissection of tumorigenesis in primary cancers

scientific article

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

scientific article (publication date: September 2010)

The functional spectrum of low-frequency coding variation ⬇️

scientific article published on September 14, 2011

The genetic landscape of clinical resistance to RAF inhibition in metastatic melanoma

scientific article

The genetic landscape of high-risk neuroblastoma

scientific article published on 20 January 2013

The genomic complexity of primary human prostate cancer

scientific article

The genomic landscape of pediatric Ewing sarcoma

scientific article

Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine

scientific article

Whole-exome sequencing of circulating tumor cells provides a window into metastatic prostate cancer

scientific article

Widespread genetic heterogeneity in multiple myeloma: implications for targeted therapy

scientific article published in January 2014

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