P803: Cautionary tale on preconception counseling and genetic testing in a case of non-ketotic hyperglycinemia (NKH) in dichorionic diamniotic twins

Autor: Laura Krueger, Brian Muchmore, Christopher Connolly, Zineb Ammous, Mallory Wagner, Catherine Keegan, Elizabeth Ames

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101711- (2024)

Externí odkaz: https://doaj.org/article/a972bd79b2c844a0945bd9a1ec12b761

Supplementary Table 5 from The 19q12 Bladder Cancer GWAS Signal: Association with Cyclin E Function and Aggressive Disease

Autor: Ludmila Prokunina-Olsson, Nathaniel Rothman, Debra T. Silverman, Stephen M. Hewitt, Stephen J. Chanock, Joseph Fraumeni, William Wheeler, Laurie Burdette, Amy Hutchinson, Charles C. Chung, Xiang Deng, Zhaoming Wang, H. Barton Grossman, Giuseppe Mastrangelo, Cecilia Arici, Sofia Pavanello, Angela Carta, Stefano Porru, Eva Comperat, Morgan Roupret, Geraldine Cancel-Tassin, Olivier Cussenot, Christopher A. Haiman, Jian-Min Yuan, David Van Den Berg, Malcolm C. Pike, Mariana C. Stern, Manuela Gago-Dominguez, David V. Conti, Victoria K. Cortessis, Rebecca J. Rodabough, Chancellor Hohensee, Charles Kooperberg, Jarmo Virtamo, Stephanie J. Weinstein, Demetrius Albanes, W. Ryan Diver, Eric J. Jacobs, Susan M. Gapstur, Sara Lindstrom, Peter Kraft, David Hunter, Edward Govannucci, Immaculata De Vivo, Constance Chen, Jennifer Prescott, Elio Riboli, Jenny Chang-Claude, Paul Brennan, Anne Tjønneland, Ruth C. Travis, Miren Dorronsoro, Vittorio Krogh, Elisabete Weiderpass, Gianluca Severi, Börje Ljungberg, Dimitrios Trichopoulos, H. Bas Bueno-de-Mesquita, Afshan Siddiq, Paolo Vineis, Neil E. Caporaso, Maria T. Landi, Amanda Black, Robert L. Grubb, Gerald L. Andriole, Mark Purdue, Xifeng Wu, Josep Lloreta, Reina Garcia-Closas, Alfredo Carrato, Consol Serra, Adonina Tardon, Manolis Kogevinas, Nuria Malats, GM Monawar Hosain, Masatoshi Kida, Michael A. Jones, Liliana Guedez, Alan Schned, Adam Mumy, Alison Johnson, McAnthony Tarway, Margaret R. Karagas, Andrea B. Apolo, Molly Schwenn, Kris Ylaya, Ashley Paquin, Dalsu Baris, Brian Muchmore, Montserrat Garcia-Closas, Alexandra Scott-Johnson, Nilanjan Chatterjee, Patricia Porter-Gill, Wei Tang, Jonine D. Figueroa, Petra Lenz, Lee E. Moore, Indu Kohaar, Yi-Ping Fu

Association between CCNE1 variants and bladder cancer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44a4aa385d9478e4fcaf14ea60bceaca
https://doi.org/10.1158/0008-5472.22403564

The IFN-λ4 Conundrum: When a Good Interferon Goes Bad

Autor: Brian Muchmore, Olusegun O. Onabajo, Ludmila Prokunina-Olsson

Publikováno v: J Interferon Cytokine Res

Since its discovery in 2013, interferon lambda 4 (IFN-λ4) has received a reputation as a paradoxical type III IFN. Difficulties in detecting IFN-λ4, especially in secreted form even led to questions about its existence. However, the genetic ability

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18fb4d3820e2c2de3a655cf7bcca3ce8
https://doi.org/10.1089/jir.2019.0044

CymeR: cytometry analysis using KNIME, docker and R

Autor: Marta E. Alarcón-Riquelme, Brian Muchmore

Publikováno v: Bioinformatics
Bioinformatics, Oxford University Press (OUP), 2017, pp.btw707

Summary Here we present open-source software for the analysis of high-dimensional cytometry data using state of the art algorithms. Importantly, use of the software requires no programming ability, and output files can either be interrogated directly

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7a6b4a9685e45f5b1319ce9d678fae7
http://europepmc.org/articles/PMC5870801

The 19q12 Bladder Cancer GWAS Signal: Association with Cyclin E Function and Aggressive Disease

Autor: Kris Ylaya, Michael A. Jones, Andrea B. Apolo, Masatoshi Kida, Paul Brennan, Paolo Vineis, Sara Lindström, Edward Govannucci, Dimitrios Trichopoulos, Afshan Siddiq, Brian Muchmore, Stephen M. Hewitt, Reina Garcia-Closas, Alfredo Carrato, Robert L. Grubb, H. Barton Grossman, Petra Lenz, Alexandra Scott-Johnson, Molly Schwenn, Rebecca J. Rodabough, Montserrat Garcia-Closas, Consol Serra, Anne Tjønneland, Chancellor Hohensee, Miren Dorronsoro, Mark P. Purdue, Alison Johnson, Cecilia Arici, Constance Chen, Christopher A. Haiman, Zhaoming Wang, Jennifer Prescott, Lee E. Moore, Joseph F. Fraumeni, David Van Den Berg, G. M. Monawar Hosain, Elisabete Weiderpass, Dalsu Baris, Margaret R. Karagas, Gerald L. Andriole, Ruth C. Travis, Xiang Deng, Jian-Min Yuan, Vittorio Krogh, Geraldine Cancel-Tassin, Eric J. Jacobs, Adam Mumy, Börje Ljungberg, Josep Lloreta, Debra T. Silverman, Indu Kohaar, Demetrius Albanes, Stephanie J. Weinstein, Charles Kooperberg, W. Ryan Diver, Malcolm C. Pike, Alan R. Schned, Patricia Porter-Gill, Peter Kraft, Angela Carta, Elio Riboli, Amy Hutchinson, Olivier Cussenot, Victoria K. Cortessis, Maria Teresa Landi, Susan M. Gapstur, Laurie Burdette, Sofia Pavanello, Jenny Chang-Claude, McAnthony Tarway, Xifeng Wu, Yi-Ping Fu, Gianluca Severi, Ashley Paquin, Ludmila Prokunina-Olsson, Amanda Black, Manuela Gago-Dominguez, Eva Comperat, Adonina Tardón, Giuseppe Mastrangelo, Manolis Kogevinas, Mariana C. Stern, Neil E. Caporaso, Nilanjan Chatterjee, William Wheeler, David J. Hunter, Liliana Guedez, Wei Tang, David V. Conti, Nathaniel Rothman, Immaculata De Vivo, Jonine D. Figueroa, Morgan Rouprêt, H. Bas Bueno-de-Mesquita, Stephen J. Chanock, Stefano Porru, Núria Malats, Jarmo Virtamo, Charles C. Chung

Publikováno v: RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)

A genome-wide association study (GWAS) of bladder cancer identified a genetic marker rs8102137 within the 19q12 region as a novel susceptibility variant. This marker is located upstream of the CCNE1 gene, which encodes cyclin E, a cell-cycle protein.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ff07599a9140a065e7c408a94e846d5
https://doi.org/10.1158/0008-5472.can-14-1531