Identification of Liver Cancer Progenitors Whose Malignant Progression Depends on Autocrine IL-6 Signaling
He, Guobin, Dhar, Debanjan, Nakagawa, Hayato, Font-Burgada, Joan, Ogata, Hisanobu, Jiang, Yuhong, Shalapour, Shabnam, Seki, Ekihiro, Yost, Shawn E., Jepsen, Kristen, Frazer, Kelly A., Harismendy, Olivier, Hatziapostolou, Maria, Iliopoulos, Dimitrios, Suetsugu, Atsushi, Hoffman, Robert M., Tateishi, Ryosuke, Koike, Kazuhiko, Karin, Michael
Published in Cell (10.10.2013)
Published in Cell (10.10.2013)
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Journal Article
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation
Yost, Shawn, de Wolf, Bas, Hanks, Sandra, Zachariou, Anna, Marcozzi, Chiara, Clarke, Matthew, de Voer, Richarda, Etemad, Banafsheh, Uijttewaal, Esther, Ramsay, Emma, Wylie, Harriet, Elliott, Anna, Picton, Susan, Smith, Audrey, Smithson, Sarah, Seal, Sheila, Ruark, Elise, Houge, Gunnar, Pines, Jonathan, Kops, Geert J P L, Rahman, Nazneen
Published in Nature genetics (01.07.2017)
Published in Nature genetics (01.07.2017)
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Journal Article
Identification of high-confidence somatic mutations in whole genome sequence of formalin-fixed breast cancer specimens
Yost, Shawn E, Smith, Erin N, Schwab, Richard B, Bao, Lei, Jung, HyunChul, Wang, Xiaoyun, Voest, Emile, Pierce, John P, Messer, Karen, Parker, Barbara A, Harismendy, Olivier, Frazer, Kelly A
Published in Nucleic acids research (01.08.2012)
Published in Nucleic acids research (01.08.2012)
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Journal Article
BAP1 mutation is a frequent somatic event in peritoneal malignant mesothelioma
Alakus, Hakan, Yost, Shawn E, Woo, Brian, French, Randall, Lin, Grace Y, Jepsen, Kristen, Frazer, Kelly A, Lowy, Andrew M, Harismendy, Olivier
Published in Journal of translational medicine (16.04.2015)
Published in Journal of translational medicine (16.04.2015)
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Journal Article
High-resolution mutational profiling suggests the genetic validity of glioblastoma patient-derived pre-clinical models
Yost, Shawn E, Pastorino, Sandra, Rozenzhak, Sophie, Smith, Erin N, Chao, Ying S, Jiang, Pengfei, Kesari, Santosh, Frazer, Kelly A, Harismendy, Olivier
Published in PloS one (18.02.2013)
Published in PloS one (18.02.2013)
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Journal Article
Mutations in topoisomerase IIβ result in a B cell immunodeficiency
Broderick, Lori, Yost, Shawn, Li, Dong, McGeough, Matthew D, Booshehri, Laela M, Guaderrama, Marisela, Brydges, Susannah D, Kucharova, Karolina, Patel, Niraj C, Harr, Margaret, Hakonarson, Hakon, Zackai, Elaine, Cowell, Ian G, Austin, Caroline A, Hügle, Boris, Gebauer, Corinna, Zhang, Jianguo, Xu, Xun, Wang, Jian, Croker, Ben A, Frazer, Kelly A, Putnam, Christopher D, Hoffman, Hal M
Published in Nature communications (13.08.2019)
Published in Nature communications (13.08.2019)
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Journal Article
Mutations in the transcriptional repressor REST predispose to Wilms tumor
Mahamdallie, Shazia S, Hanks, Sandra, Karlin, Kristen L, Zachariou, Anna, Perdeaux, Elizabeth R, Ruark, Elise, Shaw, Chad A, Renwick, Alexander, Ramsay, Emma, Yost, Shawn, Elliott, Anna, Birch, Jillian, Capra, Michael, Gray, Juliet, Hale, Juliet, Kingston, Judith, Levitt, Gill, McLean, Thomas, Sheridan, Eamonn, Renwick, Anthony, Seal, Sheila, Stiller, Charles, Sebire, Neil, Westbrook, Thomas F, Rahman, Nazneen
Published in Nature genetics (01.12.2015)
Published in Nature genetics (01.12.2015)
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Journal Article
Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin
Alakus, Hakan, Babicky, Michele L, Ghosh, Pradipta, Yost, Shawn, Jepsen, Kristen, Dai, Yang, Arias, Angelo, Samuels, Michael L, Mose, Evangeline S, Schwab, Richard B, Peterson, Michael R, Lowy, Andrew M, Frazer, Kelly A, Harismendy, Olivier
Published in Genome medicine (29.05.2014)
Published in Genome medicine (29.05.2014)
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Journal Article
Mutascope: sensitive detection of somatic mutations from deep amplicon sequencing
Yost, Shawn E, Alakus, Hakan, Matsui, Hiroko, Schwab, Richard B, Jepsen, Kristen, Frazer, Kelly A, Harismendy, Olivier
Published in Bioinformatics (01.08.2013)
Published in Bioinformatics (01.08.2013)
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Journal Article
Mutational Profiling Can Establish Clonal or Independent Origin in Synchronous Bilateral Breast and Other Tumors
Bao, Lei, Messer, Karen, Schwab, Richard, Harismendy, Olivier, Pu, Minya, Crain, Brian, Yost, Shawn, Frazer, Kelly A, Rana, Brinda, Hasteh, Farnaz, Wallace, Anne, Parker, Barbara A
Published in PloS one (10.11.2015)
Published in PloS one (10.11.2015)
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Journal Article
Evaluation of ultra-deep targeted sequencing for personalized breast cancer care
Harismendy, Olivier, Schwab, Richard B, Alakus, Hakan, Yost, Shawn E, Matsui, Hiroko, Hasteh, Farnaz, Wallace, Anne M, Park, Hannah L, Madlensky, Lisa, Parker, Barbara, Carpenter, Philip M, Jepsen, Kristen, Anton-Culver, Hoda, Frazer, Kelly A
Published in Breast cancer research : BCR (10.12.2013)
Published in Breast cancer research : BCR (10.12.2013)
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Journal Article
The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing data quality assurance
Mahamdallie, Shazia, Ruark, Elise, Yost, Shawn, Münz, Márton, Renwick, Anthony, Poyastro-Pearson, Emma, Strydom, Ann, Seal, Sheila, Rahman, Nazneen
Published in Wellcome open research (2018)
Published in Wellcome open research (2018)
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Journal Article
CoverView: a sequence quality evaluation tool for next generation sequencing data
Münz, Márton, Mahamdallie, Shazia, Yost, Shawn, Rimmer, Andrew, Poyastro-Pearson, Emma, Strydom, Ann, Seal, Sheila, Ruark, Elise, Rahman, Nazneen
Published in Wellcome open research (2018)
Published in Wellcome open research (2018)
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Journal Article
The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data
Mahamdallie, Shazia, Ruark, Elise, Yost, Shawn, Ramsay, Emma, Uddin, Imran, Wylie, Harriett, Elliott, Anna, Strydom, Ann, Renwick, Anthony, Seal, Sheila, Rahman, Nazneen
Published in Wellcome open research (2017)
Published in Wellcome open research (2017)
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Journal Article
ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series
Ruark, Elise, Holt, Esty, Renwick, Anthony, Münz, Márton, Wakeling, Matthew, Ellard, Sian, Mahamdallie, Shazia, Yost, Shawn, Rahman, Nazneen
Published in Wellcome open research (2018)
Published in Wellcome open research (2018)
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Journal Article
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability
Tatton-Brown, Katrina, Loveday, Chey, Yost, Shawn, Clarke, Matthew, Ramsay, Emma, Zachariou, Anna, Elliott, Anna, Wylie, Harriet, Ardissone, Anna, Rittinger, Olaf, Stewart, Fiona, Temple, I. Karen, Cole, Trevor, Mahamdallie, Shazia, Seal, Sheila, Ruark, Elise, Rahman, Nazneen
Published in American journal of human genetics (04.05.2017)
Published in American journal of human genetics (04.05.2017)
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Journal Article
Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours
Litchfield, Kevin, Summersgill, Brenda, Yost, Shawn, Sultana, Razvan, Labreche, Karim, Dudakia, Darshna, Renwick, Anthony, Seal, Sheila, Al-Saadi, Reem, Broderick, Peter, Turner, Nicholas C, Houlston, Richard S, Huddart, Robert, Shipley, Janet, Turnbull, Clare
Published in Nature communications (22.01.2015)
Published in Nature communications (22.01.2015)
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Journal Article
Evaluation of Cancer-Based Criteria for Use in Mainstream BRCA1 and BRCA2 Genetic Testing in Patients With Breast Cancer
Kemp, Zoe, Turnbull, Alice, Yost, Shawn, Seal, Sheila, Mahamdallie, Shazia, Poyastro-Pearson, Emma, Warren-Perry, Margaret, Eccleston, Anthony, Tan, Min-Min, Teo, Soo Hwang, Turner, Nicholas, Strydom, Ann, George, Angela, Rahman, Nazneen
Published in JAMA network open (03.05.2019)
Published in JAMA network open (03.05.2019)
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Journal Article
Identification of new Wilms tumour predisposition genes: an exome sequencing study
Mahamdallie, Shazia, Yost, Shawn, Poyastro-Pearson, Emma, Holt, Esty, Zachariou, Anna, Seal, Sheila, Elliott, Anna, Clarke, Matthew, Warren-Perry, Margaret, Hanks, Sandra, Anderson, John, Bomken, Simon, Cole, Trevor, Farah, Roula, Furtwaengler, Rhoikos, Glaser, Adam, Grundy, Richard, Hayden, James, Lowis, Steve, Millot, Frédéric, Nicholson, James, Ronghe, Milind, Skeen, Jane, Williams, Denise, Yeomanson, Daniel, Ruark, Elise, Rahman, Nazneen
Published in The lancet child & adolescent health (01.05.2019)
Published in The lancet child & adolescent health (01.05.2019)
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Journal Article
Chromosomal instability by mutations in the novel minor spliceosome component CENATAC
Wolf, Bas, Oghabian, Ali, Akinyi, Maureen V, Hanks, Sandra, Tromer, Eelco C, Hooff, Jolien J E, Voorthuijsen, Lisa, Rooijen, Laura E, Verbeeren, Jens, Uijttewaal, Esther C H, Baltissen, Marijke P A, Yost, Shawn, Piloquet, Philippe, Vermeulen, Michiel, Snel, Berend, Isidor, Bertrand, Rahman, Nazneen, Frilander, Mikko J, Kops, Geert J P L
Published in The EMBO journal (15.07.2021)
Published in The EMBO journal (15.07.2021)
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Journal Article