Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition

Authors: Baliakas, Panagiotis, Blombery, Piers, Fox, Lucy C., Donadieu, Jean, Rio-Machin, Ana, Steinberg-Shemer, Orna, Morgan, Neil V., Ngeow, Joanne Y. Y., Skokowa, Julia, Pinese, Mark, Cowley, Mark J., Zerella, Jiarna R., Homan, Claire C., Arts, Peer, Lin, Xuzhu, Spinelli, Sam J., Venugopal, Parvathy, Babic, Milena, Brautigan, Peter J., Truong, Lynda, Arriola-Martinez, Luis, Moore, Sarah, Hollins, Rachel, Parker, Wendy T., Nguyen, Hung, Kassahn, Karin S., Branford, Susan, Feurstein, Simone, Larcher, Lise, Sicre de Fontbrune, Flore, Demirdas, Serwet, de Munnik, Sonja, Antoine-Poirel, Hélène, Brichard, Benedicte, Mansour, Sahar, Gordon, Kristiana, Wlodarski, Marcin W., Koppayi, Ashwin, Dobbins, Sara, Mutsaers, Pim G. N. J., Nichols, Kim E., Oak, Ninad, DeMille, Desiree, Mao, Rong, Crawford, Ali, McCarrier, Julie, Basel, Donald, Flores-Daboub, Josue, Drazer, Michael W., Phillips, Kerry, Poplawski, Nicola K., Birdsey, Graeme M., Pirri, Daniela, Ostergaard, Pia, Simons, Annet, Godley, Lucy A., Ross, David M., Hiwase, Devendra K., Soulier, Jean, Brown, Anna L., Carmichael, Catherine L., Scott, Hamish S., Hahn, Christopher N.

Source: In Blood 24 October 2024 144(17):1765-1780

Identification of recurrent noncoding mutations in B-cell lymphoma using capture Hi-C

Authors: Cornish, Alex J. ^*, Hoang, Phuc H., Dobbins, Sara E., Law, Philip J., Chubb, Daniel, Orlando, Giulia, Houlston, Richard S.

Source: In Blood Advances 8 January 2019 3(1):21-32

Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.

Authors: 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, Gordon, Kristiana, Martin-Almedina, Silvia, Dobbins, Sara, Ostergaard, Pia, Quere, Isabelle, Brouillard, Pascal

Source: Human Molecular Genetics; 7/15/2024, Vol. 33 Issue 14, p1250-1261, 12p

Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients—a Systematic Review

Authors: Broderick, Peter, Dobbins, Sara E., Chubb, Daniel, Kinnersley, Ben, Dunlop, Malcolm G., Tomlinson, Ian, Houlston, Richard S.

Source: In Gastroenterology January 2017 152(1):75-77

Prioritizing Rare Variants with Conditional Likelihood Ratios

Authors: Li, Weili, Dobbins, Sara, Tomlinson, Ian, Houlston, Richard, Pal, Deb K., Strug, Lisa J.

Source: Human Heredity, 2015 Jan 01. 79(1), 5-13.

Access URL: https://www.jstor.org/stable/48513572

Developmental timing of mutations revealed by whole-genome sequencing of twins with acute lymphoblastic leukemia

Authors: Ma, Yussanne, Dobbins, Sara E., Sherborne, Amy L., Chubb, Daniel, Galbiati, Marta, Cazzaniga, Giovanni, Micalizzi, Concetta, Tearle, Rick, Lloyd, Amy L., Hain, Richard, Greaves, Mel, Houlston, Richard S.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2013 Apr . 110(18), 7429-7433.

Access URL: https://www.jstor.org/stable/42590641

Insights into Protein Flexibility: The Relationship between Normal Modes and Conformational Change upon Protein-Protein Docking

Authors: Dobbins, Sara E., Lesk, Victor I., Sternberg, Michael J. E.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2008 Jul . 105(30), 10390-10395.

Access URL: https://www.jstor.org/stable/25463164

MHC variation and risk of childhood B-cell precursor acute lymphoblastic leukemia

Authors: Hosking, Fay J., Leslie, Stephen, Dilthey, Alexander, Moutsianas, Loukas, Wang, Yufei, Dobbins, Sara E., Papaemmanuil, Elli, Sheridan, Eamonn, Kinsey, Sally E., Lightfoot, Tracy, Roman, Eve, Irving, Julie A.E., Allan, James M., Taylor, Malcolm, Greaves, Mel, McVean, Gilean, Houlston, Richard S.

Source: In Blood 3 February 2011 117(5):1633-1640

ERG Is a New Predisposition Gene for Bone Marrow Failure and Hematological Malignancy

Authors: Scott, Hamish S, Zerella, Jiarna, Homan, Claire, Arts, Peer, Lin, Steve, Spinelli, Sam J, Babic, Milena, Brautigan, Peter J, Truong, Lynda, Arriola-Martinez, Luis, Venugopal, Parvathy, Feurstein, Simone K, Larcher, Lise, Sicre De Fontbrune, Flore, Demirdas, Serwet, De Munnik, Sonja, Poirel, Hélène, Brichard, Benedicte, Dobbins, Sara, Mutsaers, Pim, DeMille, Desiree S, Flores-Daboub, Josue, Drazer, Michael W, Crawford, Alison, McCarrier, Julie, Basel, Donald G, Phillips, Kerry, Poplawski, Nicola K, Birdsey, Graeme, Pirri, Daniela, Ostergaard, Pia, Simons, Annet, Godley, Lucy, Ross, David M., Hiwase, Devendra, Soulier, Jean, Brown, Anna, Carmichael, Catherine, Hahn, Christopher N.

Source: In Blood 21 November 2023 142 Supplement 2

Investigation of clinical characteristics and genome associations in the 'UK Lipoedema' cohort.

Authors: 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

Source: PLoS ONE; 10/13/2022, Vol. 17 Issue 10, p1-19, 19p

Subject Terms: LIPEDEMA, GENOME-wide association studies, SINGLE nucleotide polymorphisms

Genetic Predisposition to Multiple Myeloma at 5q15 Is Mediated by an ELL2 Enhancer Polymorphism

Authors: Li, Ni, Johnson, David C., Weinhold, Niels, Kimber, Scott, Dobbins, Sara E., Mitchell, Jonathan S., Kinnersley, Ben, Sud, Amit, Law, Philip J., Orlando, Giulia, Scales, Matthew, Wardell, Christopher P., Försti, Asta, Hoang, Phuc H., Went, Molly, Holroyd, Amy, Hariri, Fadi, Pastinen, Tomi, Meissner, Tobias, Goldschmidt, Hartmut, Hemminki, Kari, Morgan, Gareth J., Kaiser, Martin, Houlston, Richard S.

Source: In Cell Reports 12 September 2017 20(11):2556-2564

Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.

Authors: Dunlop, Malcolm G¹, Dobbins, Sara E², Farrington, Susan Mary¹, Jones, Angela M³, Palles, Claire³, Whiffin, Nicola², Tenesa, Albert¹, Spain, Sarah³, Broderick, Peter², Ooi, Li-Yin¹, Domingo, Enric³, Smillie, Claire¹, Henrion, Marc², Frampton, Matthew², Martin, Lynn³, Grimes, Graeme¹, Gorman, Maggie³, Semple, Colin¹, Ma, Yusanne P², Barclay, Ella³

Source: Nature Genetics. Jul2012, Vol. 44 Issue 7, p770-776. 7p.

Subject Terms: *COLON cancer risk factors, *META-analysis, *GENOMES, *LOCUS (Genetics), *DISEASE susceptibility, *CASE-control method, *HUMAN genetic variation

Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.

Authors: Houlston, Richard S., Cheadle, Jeremy, Dobbins, Sara E.

Source: Nature Genetics; November 2010, Vol. 42 Issue 11, p973-977, 5p

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.

Common variation at 10p12.31 near MLLT10 influences meningioma risk.

Authors: Dobbins, Sara E., Broderick, Peter, Melin, Beatrice

Source: Nature Genetics; September 2011, Vol. 43 Issue 9, p825-827, 3p

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.