Author details

Full Name

Kristian Cibulskis

Affiliation

ORCID

Career Start Year

2008

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
34373650	Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans.	Nature	2021
33536625	Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans.	Nature	2021
32461654	The mutational constraint spectrum quantified from variation in 141,456 humans.	Nature	2020
28594900	Systematic genomic and translational efficiency studies of uveal melanoma.	PLoS One	2017
27199251	Clonal evolution in patients with chronic lymphocytic leukaemia developing resistance to BTK inhibition.	Nat Commun	2016
26061751	Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas.	N Engl J Med	2015
25957691	Prospective derivation of a living organoid biobank of colorectal cancer patients.	Cell	2015
26466571	Mutations driving CLL and their evolution in progression and relapse.	Nature	2015
26372948	Comprehensive analysis of cancer-associated somatic mutations in class I HLA genes.	Nat Biotechnol	2015
26410082	Genomic Characterization of Brain Metastases Reveals Branched Evolution and Potential Therapeutic Targets.	Cancer Discov	2015
24836576	Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine.	Nat Med	2014
25589003	Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.	Acta Neuropathol Commun	2014
25344691	RNF43 is frequently mutated in colorectal and endometrial cancers.	Nat Genet	2014
24265154	MAP kinase pathway alterations in BRAF-mutant melanoma patients with acquired resistance to combined RAF/MEK inhibition.	Cancer Discov	2014
24265153	The genetic landscape of clinical resistance to RAF inhibition in metastatic melanoma.	Cancer Discov	2014
24390348	Landscape of genomic alterations in cervical carcinomas.	Nature	2014
24434212	Widespread genetic heterogeneity in multiple myeloma: implications for targeted therapy.	Cancer Cell	2014
24323028	Integrative and comparative genomic analysis of lung squamous cell carcinomas in East Asian patients.	J Clin Oncol	2014
24909177	Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences.	Oncogene	2014
24630729	Genetic and clonal dissection of murine small cell lung carcinoma progression by genome sequencing.	Cell	2014
25186949	The genomic landscape of pediatric Ewing sarcoma.	Cancer Discov	2014
24894453	Colon cancer-derived oncogenic EGFR G724S mutant identified by whole genome sequence analysis is dependent on asymmetric dimerization and sensitive to cetuximab.	Mol Cancer	2014
24752078	Whole-exome sequencing of circulating tumor cells provides a window into metastatic prostate cancer.	Nat Biotechnol	2014
24891321	Systematic identification of personal tumor-specific neoantigens in chronic lymphocytic leukemia.	Blood	2014
23334666	The genetic landscape of high-risk neuroblastoma.	Nat Genet	2013
22824796	Mutations in isocitrate dehydrogenase 1 and 2 occur frequently in intrahepatic cholangiocarcinomas and share hypermethylation targets with glioblastomas.	Oncogene	2013
23770567	Mutational heterogeneity in cancer and the search for new cancer-associated genes.	Nature	2013
24185511	Somatic mutation of CDKN1B in small intestine neuroendocrine tumors.	Nat Genet	2013
23396133	Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.	Nat Genet	2013
23396013	Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples.	Nat Biotechnol	2013
23525077	Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.	Nat Genet	2013
23622249	Punctuated evolution of prostate cancer genomes.	Cell	2013
23257362	Prognostically relevant gene signatures of high-grade serous ovarian carcinoma.	J Clin Invest	2013
23415222	Evolution and impact of subclonal mutations in chronic lymphocytic leukemia.	Cell	2013
23065719	A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.	Hum Mutat	2012
22544022	Absolute quantification of somatic DNA alterations in human cancer.	Nat Biotechnol	2012
22797305	A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers.	J Clin Invest	2012
22622578	Melanoma genome sequencing reveals frequent PREX2 mutations.	Nature	2012
22279524	Genetic mapping and exome sequencing identify variants associated with five novel diseases.	PLoS One	2012
22722202	Sequence analysis of mutations and translocations across breast cancer subtypes.	Nature	2012
22820256	Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations.	Nature	2012
22610119	Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer.	Nat Genet	2012
22817889	A landscape of driver mutations in melanoma.	Cell	2012
22980975	Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing.	Cell	2012
22941188	Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer.	Nat Genet	2012
22150006	SF3B1 and other novel cancer genes in chronic lymphocytic leukemia.	N Engl J Med	2011
21307934	The genomic complexity of primary human prostate cancer.	Nature	2011
21478889	A framework for variation discovery and genotyping using next-generation DNA sequencing data.	Nat Genet	2011
21430775	Initial genome sequencing and analysis of multiple myeloma.	Nature	2011
21205303	A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries.	Genome Biol	2011