Pharmacogenetics of rheumatoid arthritis: Potential targets from susceptibility genes and present therapies

por O’Rielly, Darren D, Rahman, Proton
Publicado 2010

Genome-Wide Signatures of ‘Rearrangement Hotspots’ within Segmental Duplications in Humans

por Uddin, Mohammed, Sturge, Mitch, Peddle, Lynette, O'Rielly, Darren D., Rahman, Proton
Publicado 2011

Integrated Genomics Identifies Convergence of Ankylosing Spondylitis with Global Immune Mediated Disease Pathways

por Uddin, Mohammed, Codner, Dianne, Mahmud Hasan, S M, Scherer, Stephen W, O’Rielly, Darren D, Rahman, Proton
Publicado 2015

UGT2B17 copy number gain in a large ankylosing spondylitis multiplex family

por Uddin, Mohammed, Maksymowych, Walter P, Inman, Robert, Gladman, Dafna, Munn, Alexandra, Yazdani, Ramin, Pellett, Fawnda, Hamilton, Sean, O’Rielly, Darren D, Rahman, Proton
Publicado 2013

Rho-GTPase pathways may differentiate treatment response to TNF-alpha and IL-17A inhibitors in psoriatic arthritis

por Rahmati, Sara, O’Rielly, Darren D., Li, Quan, Codner, Dianne, Dohey, Amanda, Jenkins, Kari, Jurisica, Igor, Gladman, Dafna D., Chandran, Vinod, Rahman, Proton
Publicado 2020

Mutational Landscape of Autism Spectrum Disorder Brain Tissue

por Woodbury-Smith, Marc, Lamoureux, Sylvia, Begum, Ghausia, Nassir, Nasna, Akter, Hosneara, O’Rielly, Darren D., Rahman, Proton, Wintle, Richard F., Scherer, Stephen W., Uddin, Mohammed
Publicado 2022

Private rare deletions in SEC16A and MAMDC4 may represent novel pathogenic variants in familial axial spondyloarthritis

por O'Rielly, Darren D, Uddin, Mohammed, Codner, Dianne, Hayley, Michael, Zhou, Jiayi, Pena-Castillo, Lourdes, Mostafa, Ahmed A, Hasan, S M Mahmudul, Liu, William, Haroon, Nigil, Inman, Robert, Rahman, Proton
Publicado 2016

Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss

por Pater, Justin A., Green, Jane, O’Rielly, Darren D., Griffin, Anne, Squires, Jessica, Burt, Taylor, Fernandez, Sara, Fernandez, Bridget, Houston, Jim, Zhou, Jiayi, Roslin, Nicole M., Young, Terry-Lynn
Publicado 2019

Practice guidelines for BRCA1/2 tumour testing in ovarian cancer

por Grafodatskaya, Daria, O’Rielly, Darren D, Bedard, Karine, Butcher, Darci T, Howlett, Christopher J, Lytwyn, Alice, McCready, Elizabeth, Parboosingh, Jillian, Spriggs, Elizabeth L, Vaags, Andrea K, Stockley, Tracy L
Publicado 2022

A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect

por Pater, Justin A., Benteau, Tammy, Griffin, Anne, Penney, Cindy, Stanton, Susan G., Predham, Sarah, Kielley, Bernadine, Squires, Jessica, Zhou, Jiayi, Li, Quan, Abdelfatah, Nelly, O’Rielly, Darren D., Young, Terry-Lynn
Publicado 2016

A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect

por Dawson, Lesa M., Smith, Kerri N., Werdyani, Salem, Ndikumana, Robyn, Penney, Cindy, Wiede, Louisa L., Smith, Kendra L., Pater, Justin A., MacMillan, Andrée, Green, Jane, Drover, Sheila, Young, Terry‐Lynn, O’Rielly, Darren D.
Publicado 2019

Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses

por Singh, Sushma, Penney, Cindy, Griffin, Anne, Woodland, Geoffrey, Werdyani, Salem, Benteau, Tammy A., Abdelfatah, Nelly, Squires, Jessica, King, Beverly, Houston, Jim, Dyer, Matthew J., Roslin, Nicole M., Vincent, Daniel, Marquis, Pascale, O’Rielly, Darren D., Hodgkinson, Kathy, Burt, Taylor, Baker, Ashley, Stanton, Susan G., Young, Terry-Lynn
Publicado 2023

Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh

por Akter, Hosneara, Hossain, Mohammad Shahnoor, Dity, Nushrat Jahan, Rahaman, Md. Atikur, Furkan Uddin, K. M., Nassir, Nasna, Begum, Ghausia, Hameid, Reem Abdel, Islam, Muhammad Sougatul, Tusty, Tahrima Arman, Basiruzzaman, Mohammad, Sarkar, Shaoli, Islam, Mazharul, Jahan, Sharmin, Lim, Elaine T., Woodbury-Smith, Marc, Stavropoulos, Dimitri James, O’Rielly, Darren D., Berdeiv, Bakhrom K., Nurun Nabi, A. H. M., Ahsan, Mohammed Nazmul, Scherer, Stephen W., Uddin, Mohammed
Publicado 2021

Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene

por Pater, Justin A., Penney, Cindy, O’Rielly, Darren D., Griffin, Anne, Kamal, Lara, Brownstein, Zippora, Vona, Barbara, Vinkler, Chana, Shohat, Mordechai, Barel, Ortal, French, Curtis R., Singh, Sushma, Werdyani, Salem, Burt, Taylor, Abdelfatah, Nelly, Houston, Jim, Doucette, Lance P., Squires, Jessica, Glaser, Fabian, Roslin, Nicole M., Vincent, Daniel, Marquis, Pascale, Woodland, Geoffrey, Benoukraf, Touati, Hawkey-Noble, Alexia, Avraham, Karen B., Stanton, Susan G., Young, Terry-Lynn
Publicado 2022

A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene

por Abdelfatah, Nelly, Mostafa, Ahmed A., French, Curtis R., Doucette, Lance P., Penney, Cindy, Lucas, Matthew B., Griffin, Anne, Booth, Valerie, Rowley, Christopher, Besaw, Jessica E., Tranebjærg, Lisbeth, Rendtorff, Nanna Dahl, Hodgkinson, Kathy A., Little, Leichelle A., Agrawal, Sumit, Parnes, Lorne, Batten, Tony, Moore, Susan, Hu, Pingzhao, Pater, Justin A., Houston, Jim, Galutira, Dante, Benteau, Tammy, MacDonald, Courtney, French, Danielle, O’Rielly, Darren D., Stanton, Susan G., Young, Terry-Lynn
Publicado 2021