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Page 1
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.
Alpaslan M, Fastré E, Mestre S, van Haeringen A, Repetto GM, Keymolen K, Boon LM, Belva F, Giacalone G, Revencu N, Sznajer Y, Riches K, Keeley V, Mansour S, Gordon K, Martin-Almedina S, Dobbins S, Ostergaard P, Quere I, Brouillard P, Vikkula M. Alpaslan M, et al. Among authors: dobbins s. Hum Mol Genet. 2024 Apr 26:ddae060. doi: 10.1093/hmg/ddae060. Online ahead of print. Hum Mol Genet. 2024. PMID: 38676400
Investigation of clinical characteristics and genome associations in the 'UK Lipoedema' cohort.
Grigoriadis D, Sackey E, Riches K, van Zanten M, Brice G, England R, Mills M, Dobbins SE, Lee LL; Lipoedema Consortium; Genomics England Research Consortium; Jeffery S, Dong L, Savage DB, Mortimer PS, Keeley V, Pittman A, Gordon K, Ostergaard P. Grigoriadis D, et al. Among authors: dobbins se. PLoS One. 2022 Oct 13;17(10):e0274867. doi: 10.1371/journal.pone.0274867. eCollection 2022. PLoS One. 2022. PMID: 36227936 Free PMC 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.
Carvajal-Carmona LG, Cazier JB, Jones AM, Howarth K, Broderick P, Pittman A, Dobbins S, Tenesa A, Farrington S, Prendergast J, Theodoratou E, Barnetson R, Conti D, Newcomb P, Hopper JL, Jenkins MA, Gallinger S, Duggan DJ, Campbell H, Kerr D, Casey G, Houlston R, Dunlop M, Tomlinson I. Carvajal-Carmona LG, et al. Among authors: dobbins s. Hum Mol Genet. 2011 Jul 15;20(14):2879-88. doi: 10.1093/hmg/ddr190. Epub 2011 Apr 29. Hum Mol Genet. 2011. PMID: 21531788 Free PMC article.
Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer.
Tomlinson IP, Carvajal-Carmona LG, Dobbins SE, Tenesa A, Jones AM, Howarth K, Palles C, Broderick P, Jaeger EE, Farrington S, Lewis A, Prendergast JG, Pittman AM, Theodoratou E, Olver B, Walker M, Penegar S, Barclay E, Whiffin N, Martin L, Ballereau S, Lloyd A, Gorman M, Lubbe S; COGENT Consortium; CORGI Collaborators; EPICOLON Consortium; Howie B, Marchini J, Ruiz-Ponte C, Fernandez-Rozadilla C, Castells A, Carracedo A, Castellvi-Bel S, Duggan D, Conti D, Cazier JB, Campbell H, Sieber O, Lipton L, Gibbs P, Martin NG, Montgomery GW, Young J, Baird PN, Gallinger S, Newcomb P, Hopper J, Jenkins MA, Aaltonen LA, Kerr DJ, Cheadle J, Pharoah P, Casey G, Houlston RS, Dunlop MG. Tomlinson IP, et al. Among authors: dobbins se. PLoS Genet. 2011 Jun;7(6):e1002105. doi: 10.1371/journal.pgen.1002105. Epub 2011 Jun 2. PLoS Genet. 2011. PMID: 21655089 Free PMC article.
Deciphering the genetic architecture of low-penetrance susceptibility to colorectal cancer.
Whiffin N, Dobbins SE, Hosking FJ, Palles C, Tenesa A, Wang Y, Farrington SM, Jones AM, Broderick P, Campbell H, Newcomb PA, Casey G, Conti DV, Schumacher F, Gallinger S, Lindor NM, Hopper J, Jenkins M, Dunlop MG, Tomlinson IP, Houlston RS. Whiffin N, et al. Among authors: dobbins se. Hum Mol Genet. 2013 Dec 15;22(24):5075-82. doi: 10.1093/hmg/ddt357. Epub 2013 Jul 30. Hum Mol Genet. 2013. PMID: 23904454 Free PMC article.
Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.
Whiffin N, Hosking FJ, Farrington SM, Palles C, Dobbins SE, Zgaga L, Lloyd A, Kinnersley B, Gorman M, Tenesa A, Broderick P, Wang Y, Barclay E, Hayward C, Martin L, Buchanan DD, Win AK, Hopper J, Jenkins M, Lindor NM, Newcomb PA, Gallinger S, Conti D, Schumacher F, Casey G, Liu T; Swedish Low-Risk Colorectal Cancer Study Group; Campbell H, Lindblom A, Houlston RS, Tomlinson IP, Dunlop MG. Whiffin N, et al. Among authors: dobbins se. Hum Mol Genet. 2014 Sep 1;23(17):4729-37. doi: 10.1093/hmg/ddu177. Epub 2014 Apr 15. Hum Mol Genet. 2014. PMID: 24737748 Free PMC article.
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, Kemp Z, Spain SL, Guarino E, Salguero I, Sherborne A, Chubb D, Carvajal-Carmona LG, Ma Y, Kaur K, Dobbins S, Barclay E, Gorman M, Martin L, Kovac MB, Humphray S; CORGI Consortium; WGS500 Consortium; Lucassen A, Holmes CC, Bentley D, Donnelly P, Taylor J, Petridis C, Roylance R, Sawyer EJ, Kerr DJ, Clark S, Grimes J, Kearsey SE, Thomas HJ, McVean G, Houlston RS, Tomlinson I. Palles C, et al. Among authors: dobbins s. Nat Genet. 2013 Feb;45(2):136-44. doi: 10.1038/ng.2503. Epub 2012 Dec 23. Nat Genet. 2013. PMID: 23263490 Free PMC article.
Deciphering the 8q24.21 association for glioma.
Enciso-Mora V, Hosking FJ, Kinnersley B, Wang Y, Shete S, Zelenika D, Broderick P, Idbaih A, Delattre JY, Hoang-Xuan K, Marie Y, Di Stefano AL, Labussière M, Dobbins S, Boisselier B, Ciccarino P, Rossetto M, Armstrong G, Liu Y, Gousias K, Schramm J, Lau C, Hepworth SJ, Strauch K, Müller-Nurasyid M, Schreiber S, Franke A, Moebus S, Eisele L, Forsti A, Hemminki K, Tomlinson IP, Swerdlow A, Lathrop M, Simon M, Bondy M, Sanson M, Houlston RS. Enciso-Mora V, et al. Among authors: dobbins s. Hum Mol Genet. 2013 Jun 1;22(11):2293-302. doi: 10.1093/hmg/ddt063. Epub 2013 Feb 11. Hum Mol Genet. 2013. PMID: 23399484 Free PMC article.
Chromosome 7p11.2 (EGFR) variation influences glioma risk.
Sanson M, Hosking FJ, Shete S, Zelenika D, Dobbins SE, Ma Y, Enciso-Mora V, Idbaih A, Delattre JY, Hoang-Xuan K, Marie Y, Boisselier B, Carpentier C, Wang XW, Di Stefano AL, Labussière M, Gousias K, Schramm J, Boland A, Lechner D, Gut I, Armstrong G, Liu Y, Yu R, Lau C, Di Bernardo MC, Robertson LB, Muir K, Hepworth S, Swerdlow A, Schoemaker MJ, Wichmann HE, Müller M, Schreiber S, Franke A, Moebus S, Eisele L, Försti A, Hemminki K, Lathrop M, Bondy M, Houlston RS, Simon M. Sanson M, et al. Among authors: dobbins se. Hum Mol Genet. 2011 Jul 15;20(14):2897-904. doi: 10.1093/hmg/ddr192. Epub 2011 Apr 29. Hum Mol Genet. 2011. PMID: 21531791 Free PMC article.
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