Found: 34

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  • The silent mutational landscape of infant MLL-AF4 pro-B acute lymphoblastic leukemia.

    Published in:
    Genes, Chromosomes & Cancer, 2013, v. 52, n. 10, p. 954, doi. 10.1002/gcc.22090
    By:
    • Dobbins, Sara E.;
    • Sherborne, Amy L.;
    • Ma, Yussanne P.;
    • Bardini, Michela;
    • Biondi, Andrea;
    • Cazzaniga, Giovanni;
    • Lloyd, Amy;
    • Chubb, Daniel;
    • Greaves, Mel F.;
    • Houlston, Richard S.
    Publication type:
    Article
  • Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer.

    Published in:
    Scientific Reports, 2015, p. 16286, doi. 10.1038/srep16286
    By:
    • Timofeeva, Maria N.;
    • Kinnersley, Ben;
    • Farrington, Susan M.;
    • Whiffin, Nicola;
    • Palles, Claire;
    • Svinti, Victoria;
    • Lloyd, Amy;
    • Gorman, Maggie;
    • Ooi, Li-Yin;
    • Hosking, Fay;
    • Barclay, Ella;
    • Zgaga, Lina;
    • Dobbins, Sara;
    • Martin, Lynn;
    • Theodoratou, Evropi;
    • Broderick, Peter;
    • Tenesa, Albert;
    • Smillie, Claire;
    • Grimes, Graeme;
    • Hayward, Caroline
    Publication type:
    Article
  • Erratum: A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

    Published in:
    Scientific Reports, 2015, p. 12372, doi. 10.1038/srep12372
    By:
    • Al-Tassan, Nada A.;
    • Whiffin, Nicola;
    • Hosking, Fay J.;
    • Palles, Claire;
    • Farrington, Susan M.;
    • Dobbins, Sara E.;
    • Harris, Rebecca;
    • Gorman, Maggie;
    • Tenesa, Albert;
    • Meyer, Brian F.;
    • Wakil, Salma M.;
    • Kinnersley, Ben;
    • Campbell, Harry;
    • Martin, Lynn;
    • Smith, Christopher G.;
    • Idziaszczyk, Shelley;
    • Barclay, Ella;
    • Maughan, Timothy S.;
    • Kaplan, Richard;
    • Kerr, Rachel
    Publication type:
    Article
  • A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

    Published in:
    Scientific Reports, 2015, p. 10442, doi. 10.1038/srep10442
    By:
    • Al-Tassan, Nada A.;
    • Whiffin, Nicola;
    • Hosking, Fay J.;
    • Palles, Claire;
    • Farrington, Susan M.;
    • Dobbins, Sara E.;
    • Harris, Rebecca;
    • Gorman, Maggie;
    • Tenesa, Albert;
    • Meyer, Brian F.;
    • Wakil, Salma M.;
    • Kinnersley, Ben;
    • Campbell, Harry;
    • Martin, Lynn;
    • Smith, Christopher G.;
    • Idziaszczyk, Shelley;
    • Barclay, Ella;
    • Maughan, Timothy S.;
    • Kaplan, Richard;
    • Kerr, Rachel
    Publication type:
    Article
  • Prioritizing Rare Variants with Conditional Likelihood Ratios.

    Published in:
    Human Heredity, 2015, v. 79, n. 1, p. 5, doi. 10.1159/000371579
    By:
    • Li, Weili;
    • Dobbins, Sara;
    • Tomlinson, Ian;
    • Houlston, Richard;
    • Pal, Deb K.;
    • Strug, Lisa J.
    Publication type:
    Article
  • Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 17, p. 4729
    By:
    • Whiffin, Nicola;
    • Hosking, Fay J.;
    • Farrington, Susan M.;
    • Palles, Claire;
    • Dobbins, Sara E.;
    • Zgaga, Lina;
    • Lloyd, Amy;
    • Kinnersley, Ben;
    • Gorman, Maggie;
    • Tenesa, Albert;
    • Broderick, Peter;
    • Wang, Yufei;
    • Barclay, Ella;
    • Hayward, Caroline;
    • Martin, Lynn;
    • Buchanan, Daniel D.;
    • Win, Aung Ko;
    • Hopper, John;
    • Jenkins, Mark;
    • Lindor, Noralane M.
    Publication type:
    Article
  • Deciphering the genetic architecture of low-penetrance susceptibility to colorectal cancer.

    Published in:
    Human Molecular Genetics, 2013, v. 22, n. 24, p. 5075, doi. 10.1093/hmg/ddt357
    By:
    • Whiffin, Nicola;
    • Dobbins, Sara E.;
    • Hosking, Fay J.;
    • Palles, Claire;
    • Tenesa, Albert;
    • Wang, Yufei;
    • Farrington, Susan M.;
    • Jones, Angela M.;
    • Broderick, Peter;
    • Campbell, Harry;
    • Newcomb, Polly A.;
    • Casey, Graham;
    • Conti, David V.;
    • Schumacher, Fred;
    • Gallinger, Steve;
    • Lindor, Noralane M.;
    • Hopper, John;
    • Jenkins, Mark;
    • Dunlop, Malcolm G.;
    • Tomlinson, Ian P.
    Publication type:
    Article
  • Deciphering the 8q24.21 association for glioma.

    Published in:
    Human Molecular Genetics, 2013, v. 22, n. 11, p. 2293, doi. 10.1093/hmg/ddt063
    By:
    • Enciso-Mora, Victor;
    • Hosking, Fay J.;
    • Kinnersley, Ben;
    • Wang, Yufei;
    • Shete, Sanjay;
    • Zelenika, Diana;
    • Broderick, Peter;
    • Idbaih, Ahmed;
    • Delattre, Jean-Yves;
    • Hoang-Xuan, Khe;
    • Marie, Yannick;
    • Di Stefano, Anna Luisa;
    • Labussière, Marianne;
    • Dobbins, Sara;
    • Boisselier, Blandine;
    • Ciccarino, Pietro;
    • Rossetto, Marta;
    • Armstrong, Georgina;
    • Liu, Yanhong;
    • Gousias, Konstantinos
    Publication type:
    Article
  • Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes.

    Published in:
    Human Molecular Genetics, 2011, v. 20, n. 14, p. 2879, doi. 10.1093/hmg/ddr190
    By:
    • Carvajal-Carmona, Luis G.;
    • Cazier, Jean-Baptiste;
    • Jones, Angela M.;
    • Howarth, Kimberley;
    • Broderick, Peter;
    • Pittman, Alan;
    • Dobbins, Sara;
    • Tenesa, Albert;
    • Farrington, Susan;
    • Prendergast, James;
    • Theodoratou, Evi;
    • Barnetson, Rebecca;
    • Conti, David;
    • Newcomb, Polly;
    • Hopper, John L.;
    • Jenkins, Mark A.;
    • Gallinger, Steven;
    • Duggan, David J.;
    • Campbell, Harry;
    • Kerr, David
    Publication type:
    Article
  • Chromosome 7p11.2 (EGFR) variation influences glioma risk.

    Published in:
    Human Molecular Genetics, 2011, v. 20, n. 14, p. 2897, doi. 10.1093/hmg/ddr192
    By:
    • Sanson, Marc;
    • Hosking, Fay J.;
    • Shete, Sanjay;
    • Zelenika, Diana;
    • Dobbins, Sara E.;
    • Ma, Yussanne;
    • Enciso-Mora, Victor;
    • Idbaih, Ahmed;
    • Delattre, Jean-Yves;
    • Hoang-Xuan, Khe;
    • Marie, Yannick;
    • Boisselier, Blandine;
    • Carpentier, Catherine;
    • Wang, Xiao-Wei;
    • Di Stefano, Anna Luisa;
    • Labussière, Marianne;
    • Gousias, Konstantinos;
    • Schramm, Johannes;
    • Boland, Anne;
    • Lechner, Doris
    Publication type:
    Article
  • Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.

    Published in:
    Nature Communications, 2016, v. 7, n. 6, p. 11883, doi. 10.1038/ncomms11883
    By:
    • Chubb, Daniel;
    • Broderick, Peter;
    • Dobbins, Sara E.;
    • Frampton, Matthew;
    • Kinnersley, Ben;
    • Penegar, Steven;
    • Price, Amy;
    • Ma, Yussanne P.;
    • Sherborne, Amy L.;
    • Palles, Claire;
    • Timofeeva, Maria N.;
    • Bishop, D. Timothy;
    • Dunlop, Malcolm G.;
    • Tomlinson, Ian;
    • Houlston, Richard S.
    Publication type:
    Article
  • Correspondence: SEMA4A variation and risk of colorectal cancer.

    Published in:
    Nature Communications, 2016, v. 7, n. 3, p. 10611, doi. 10.1038/ncomms10611
    By:
    • Kinnersley, Ben;
    • Chubb, Daniel;
    • Dobbins, Sara E.;
    • Frampton, Matthew;
    • Buch, Stephan;
    • Timofeeva, Maria N.;
    • Castellví-Bel, Sergi;
    • Farrington, Susan M.;
    • Forsti, Asta;
    • Hampe, Jochen;
    • Hemminki, Kari;
    • Hofstra, Robert M. W.;
    • Northwood, Emma;
    • Palles, Claire;
    • Pinheiro, Manuela;
    • Ruiz-Ponte, Clara;
    • Schafmayer, Clemens;
    • Teixeira, Manuel R.;
    • Westers, Helga;
    • van Wezel, Tom
    Publication type:
    Article
  • TCF12 is mutated in anaplastic oligodendroglioma.

    Published in:
    Nature Communications, 2015, v. 6, n. 6, p. 7207, doi. 10.1038/ncomms8207
    By:
    • Labreche, Karim;
    • Simeonova, Iva;
    • Kamoun, Aurélie;
    • Gleize, Vincent;
    • Chubb, Daniel;
    • Letouzé, Eric;
    • Riazalhosseini, Yasser;
    • Dobbins, Sara E.;
    • Elarouci, Nabila;
    • Ducray, Francois;
    • de Reyniès, Aurélien;
    • Zelenika, Diana;
    • Wardell, Christopher P.;
    • Frampton, Mathew;
    • Saulnier, Olivier;
    • Pastinen, Tomi;
    • Hallout, Sabrina;
    • Figarella-Branger, Dominique;
    • Dehais, Caroline;
    • Idbaih, Ahmed
    Publication type:
    Article
  • Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.

    Published in:
    Nature Genetics, 2013, v. 45, n. 10, p. 1221, doi. 10.1038/ng.2733
    By:
    • Chubb, Daniel;
    • Weinhold, Niels;
    • Broderick, Peter;
    • Chen, Bowang;
    • Johnson, David C;
    • Försti, Asta;
    • Vijayakrishnan, Jayaram;
    • Migliorini, Gabriele;
    • Dobbins, Sara E;
    • Holroyd, Amy;
    • Hose, Dirk;
    • Walker, Brian A;
    • Davies, Faith E;
    • Gregory, Walter A;
    • Jackson, Graham H;
    • Irving, Julie A;
    • Pratt, Guy;
    • Fegan, Chris;
    • Fenton, James A L;
    • Neben, Kai
    Publication type:
    Article
  • Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

    Published in:
    Nature Genetics, 2013, v. 45, n. 6, p. 713, doi. 10.1038/ng0613-713b
    By:
    • Palles, Claire;
    • Cazier, Jean-Baptiste;
    • Howarth, Kimberley M;
    • Domingo, Enric;
    • Jones, Angela M;
    • Broderick, Peter;
    • Kemp, Zoe;
    • Spain, Sarah L;
    • Guarino, Estrella;
    • Salguero, Israel;
    • Sherborne, Amy;
    • Chubb, Daniel;
    • Carvajal-Carmona, Luis G;
    • Ma, Yusanne;
    • Kaur, Kulvinder;
    • Dobbins, Sara;
    • Barclay, Ella;
    • Gorman, Maggie;
    • Martin, Lynn;
    • Kovac, Michal B
    Publication type:
    Article
  • The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.

    Published in:
    Nature Genetics, 2013, v. 45, n. 5, p. 522, doi. 10.1038/ng.2583
    By:
    • Weinhold, Niels;
    • Johnson, David C;
    • Chubb, Daniel;
    • Chen, Bowang;
    • Försti, Asta;
    • Hosking, Fay J;
    • Broderick, Peter;
    • Ma, Yussanne P;
    • Dobbins, Sara E;
    • Hose, Dirk;
    • Walker, Brian A;
    • Davies, Faith E;
    • Kaiser, Martin F;
    • Li, Ni L;
    • Gregory, Walter A;
    • Jackson, Graham H;
    • Witzens-Harig, Mathias;
    • Neben, Kai;
    • Hoffmann, Per;
    • Nöthen, Markus M
    Publication type:
    Article
  • Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

    Published in:
    Nature Genetics, 2013, v. 45, n. 2, p. 136, doi. 10.1038/ng.2503
    By:
    • Palles, Claire;
    • Cazier, Jean-Baptiste;
    • Howarth, Kimberley M;
    • Domingo, Enric;
    • Jones, Angela M;
    • Broderick, Peter;
    • Kemp, Zoe;
    • Spain, Sarah L;
    • Almeida, Estrella Guarino;
    • Salguero, Israel;
    • Sherborne, Amy;
    • Chubb, Daniel;
    • Carvajal-Carmona, Luis G;
    • Ma, Yusanne;
    • Kaur, Kulvinder;
    • Dobbins, Sara;
    • Barclay, Ella;
    • Gorman, Maggie;
    • Martin, Lynn;
    • Kovac, Michal B
    Publication type:
    Article
  • Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.

    Published in:
    Nature Genetics, 2012, v. 44, n. 7, p. 770, doi. 10.1038/ng.2293
    By:
    • Dunlop, Malcolm G;
    • Dobbins, Sara E;
    • Farrington, Susan Mary;
    • Jones, Angela M;
    • Palles, Claire;
    • Whiffin, Nicola;
    • Tenesa, Albert;
    • Spain, Sarah;
    • Broderick, Peter;
    • Ooi, Li-Yin;
    • Domingo, Enric;
    • Smillie, Claire;
    • Henrion, Marc;
    • Frampton, Matthew;
    • Martin, Lynn;
    • Grimes, Graeme;
    • Gorman, Maggie;
    • Semple, Colin;
    • Ma, Yusanne P;
    • Barclay, Ella
    Publication type:
    Article
  • Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk.

    Published in:
    Nature Genetics, 2012, v. 44, n. 1, p. 58, doi. 10.1038/ng.993
    By:
    • Broderick, Peter;
    • Chubb, Daniel;
    • Johnson, David C;
    • Weinhold, Niels;
    • Försti, Asta;
    • Lloyd, Amy;
    • Olver, Bianca;
    • Ma, Yussanne P;
    • Dobbins, Sara E;
    • Walker, Brian A;
    • Davies, Faith E;
    • Gregory, Walter A;
    • Child, J Anthony;
    • Ross, Fiona M;
    • Jackson, Graham H;
    • Neben, Kai;
    • Jauch, Anna;
    • Hoffmann, Per;
    • Mühleisen, Thomas W;
    • Nöthen, Markus M
    Publication type:
    Article
  • Common variation at 10p12.31 near MLLT10 influences meningioma risk.

    Published in:
    Nature Genetics, 2011, v. 43, n. 9, p. 825, doi. 10.1038/ng.879
    By:
    • Dobbins, Sara E.;
    • Broderick, Peter;
    • Melin, Beatrice;
    • Feychting, Maria;
    • Johansen, Christoffer;
    • Andersson, Ulrika;
    • Brännström, Thomas;
    • Schramm, Johannes;
    • Olver, Bianca;
    • Lloyd, Amy;
    • Ma, Yussanne P;
    • Hosking, Fay J.;
    • Lönn, Stefan;
    • Ahlbom, Anders;
    • Henriksson, Roger;
    • Schoemaker, Minouk J.;
    • Hepworth, Sarah J.;
    • Hoffmann, Per;
    • Mühleisen, Thomas W.;
    • Nöthen, Markus M.
    Publication type:
    Article
  • A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3).

    Published in:
    Nature Genetics, 2010, v. 42, n. 12, p. 1126, doi. 10.1038/ng.696
    By:
    • Enciso-Mora, Victor;
    • Broderick, Peter;
    • Ma, Yussanne;
    • Jarrett, Ruth F.;
    • Hjalgrim, Henrik;
    • Hemminki, Kari;
    • Van den Berg, Anke;
    • Olver, Bianca;
    • Lloyd, Amy;
    • Dobbins, Sara E.;
    • Lightfoot, Tracy;
    • Van Leeuwen, Flora E.;
    • Försti, Asta;
    • Diepstra, Arjan;
    • Broeks, Annegien;
    • Vijayakrishnan, Jayaram;
    • Shield, Lesley;
    • Lake, Annette;
    • Montgomery, Dorothy;
    • Roman, Eve
    Publication type:
    Article
  • Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.

    Published in:
    Nature Genetics, 2010, v. 42, n. 11, p. 973, doi. 10.1038/ng.670
    By:
    • Houlston, Richard S.;
    • Cheadle, Jeremy;
    • Dobbins, Sara E.;
    • Tenesa, Albert;
    • Jones, Angela M.;
    • Howarth, Kimberley;
    • Spain, Sarah L.;
    • Broderick, Peter;
    • Domingo, Enric;
    • Farrington, Susan;
    • Prendergast, James G. D.;
    • Pittman, Alan M.;
    • Theodoratou, Evi;
    • Smith, Christopher G.;
    • Olver, Bianca;
    • Walther, Axel;
    • Barnetson, Rebecca A.;
    • Churchman, Michael;
    • Jaeger, Emma E. M.;
    • Penegar, Steven
    Publication type:
    Article
  • Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk.

    Published in:
    Nature Genetics, 2010, v. 42, n. 6, p. 492, doi. 10.1038/ng.585
    By:
    • Sherborne, Amy L.;
    • Hosking, Fay J.;
    • Prasad, Rashmi B.;
    • Kumar, Rajiv;
    • Koehler, Rolf;
    • Vijayakrishnan, Jayaram;
    • Papaemmanuil, Elli;
    • Bartram, Claus R.;
    • Stanulla, Martin;
    • Schrappe, Martin;
    • Gast, Andreas;
    • Dobbins, Sara E.;
    • Ma, Yussanne;
    • Sheridan, Eamonn;
    • Taylor, Malcolm;
    • Kinsey, Sally E.;
    • Lightfoot, Tracey;
    • Roman, Eve;
    • Irving, Julie A. E.;
    • Allan, James M.
    Publication type:
    Article
  • Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk.

    Published in:
    Nature Genetics, 2010, v. 42, n. 2, p. 132, doi. 10.1038/ng.510
    By:
    • Crowther-Swanepoel, Dalemari;
    • Broderick, Peter;
    • Di Bernardo, Maria Chiara;
    • Dobbins, Sara E.;
    • Torres, María;
    • Mansouri, Mahmoud;
    • Ruiz-Ponte, Clara;
    • Enjuanes, Anna;
    • Rosenquist, Richard;
    • Carracedo, Angel;
    • Jurlander, Jesper;
    • Campo, Elias;
    • Juliusson, Gunnar;
    • Montserrat, Emilio;
    • Smedby, Karin E.;
    • Dyer, Martin J. S.;
    • Matutes, Estella;
    • Dearden, Claire;
    • Sunter, Nicola J.;
    • Hall, Andrew G.
    Publication type:
    Article
  • Genome-wide association study identifies five susceptibility loci for glioma.

    Published in:
    Nature Genetics, 2009, v. 41, n. 8, p. 899, doi. 10.1038/ng.407
    By:
    • Shete, Sanjay;
    • Hosking, Fay J.;
    • Robertson, Lindsay B.;
    • Dobbins, Sara E.;
    • Sanson, Marc;
    • Malmer, Beatrice;
    • Simon, Matthias;
    • Marie, Yannick;
    • Boisselier, Blandine;
    • Delattre, Jean-Yves;
    • Khe Hoang-Xuan;
    • El Hallani, Soufiane;
    • Idbaih, Ahmed;
    • Zelenika, Diana;
    • Andersson, Ulrika;
    • Henriksson, Roger;
    • Bergenheim, A. Tommy;
    • Feychting, Maria;
    • Lönn, Stefan;
    • Ahlbom, Anders
    Publication type:
    Article
  • Multiple Common Susceptibility Variants near BMP Pathway Loci GREM1, BMP4, and BMP2 Explain Part of the Missing Heritability of Colorectal Cancer.

    Published in:
    PLoS Genetics, 2011, v. 7, n. 6, p. 1, doi. 10.1371/journal.pgen.1002105
    By:
    • Tomlinson, Ian P. M.;
    • Carvajal-Carmona, Luis G.;
    • Dobbins, Sara E.;
    • Tenesa, Albert;
    • Jones, Angela M.;
    • Howarth, Kimberley;
    • Palles, Claire;
    • Broderick, Peter;
    • Jaeger, Emma E. M.;
    • Farrington, Susan;
    • Lewis, Annabelle;
    • Prendergast, James G. D.;
    • Pittman, Alan M.;
    • Theodoratou, Evropi;
    • Olver, Bianca;
    • Walker, Marion;
    • Penegar, Steven;
    • Barclay, Ella;
    • Whiffin, Nicola;
    • Martin, Lynn
    Publication type:
    Article
  • Mutational processes contributing to the development of multiple myeloma.

    Published in:
    Blood Cancer Journal, 2019, v. 9, n. 8, p. N.PAG, doi. 10.1038/s41408-019-0221-9
    By:
    • Hoang, Phuc H.;
    • Cornish, Alex J.;
    • Dobbins, Sara E.;
    • Kaiser, Martin;
    • Houlston, Richard S.
    Publication type:
    Article
  • Investigation of clinical characteristics and genome associations in the 'UK Lipoedema' cohort.

    Published in:
    PLoS ONE, 2022, v. 17, n. 10, p. 1, doi. 10.1371/journal.pone.0274867
    By:
    • Grigoriadis, Dionysios;
    • Sackey, Ege;
    • Riches, Katie;
    • van Zanten, Malou;
    • Brice, Glen;
    • England, Ruth;
    • Mills, Mike;
    • Dobbins, Sara E.;
    • Lee, Li Ling;
    • Jeffery, Steve;
    • Dong, Liang;
    • Savage, David B.;
    • Mortimer, Peter S.;
    • Keeley, Vaughan;
    • Pittman, Alan;
    • Gordon, Kristiana;
    • Ostergaard, Pia
    Publication type:
    Article
  • Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.

    Published in:
    Familial Cancer, 2016, v. 15, n. 4, p. 593, doi. 10.1007/s10689-016-9914-4
    By:
    • Dobbins, Sara;
    • Broderick, Peter;
    • Chubb, Daniel;
    • Kinnersley, Ben;
    • Sherborne, Amy L.;
    • Houlston, Richard
    Publication type:
    Article
  • Genome-wide association studies for detecting cancer susceptibility.

    Published in:
    British Medical Bulletin, 2011, v. 97, n. 1, p. 27, doi. 10.1093/bmb/ldq038
    By:
    • Hosking, Fay J.;
    • Dobbins, Sara E.;
    • Houlston, Richard S.
    Publication type:
    Article
  • Association analysis using next-generation sequence data from publicly available control groups: the robust variance score statistic.

    Published in:
    Bioinformatics, 2014, v. 30, n. 15, p. 2179, doi. 10.1093/bioinformatics/btu196
    By:
    • Derkach, Andriy;
    • Chiang, Theodore;
    • Gong, Jiafen;
    • Addis, Laura;
    • Dobbins, Sara;
    • Tomlinson, Ian;
    • Houlston, Richard;
    • Pal, Deb K.;
    • Strug, Lisa J.
    Publication type:
    Article
  • Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.

    Published in:
    Human Molecular Genetics, 2024, v. 33, n. 14, p. 1250, doi. 10.1093/hmg/ddae060
    By:
    • Alpaslan, Murat;
    • Fastré, Elodie;
    • Mestre, Sandrine;
    • Haeringen, Arie van;
    • Repetto, Gabriela M;
    • Keymolen, Kathelijn;
    • Boon, Laurence M;
    • Belva, Florence;
    • Giacalone, Guido;
    • Revencu, Nicole;
    • Sznajer, Yves;
    • Riches, Katie;
    • Keeley, Vaughan;
    • Mansour, Sahar;
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