Search Results

UGT2B17 copy number gain in a large ankylosing spondylitis multiplex family

by Uddin, Mohammed, Maksymowych, Walter P, Inman, Robert, Gladman, Dafna, Munn, Alexandra, Yazdani, Ramin, Pellett, Fawnda, Hamilton, Sean, O’Rielly, Darren D, Rahman, Proton
Published in BMC Genetics (2013)

UGT2B17 copy number gain in a large ankylosing spondylitis multiplex family

by Uddin, Mohammed, Maksymowych, Walter P, Inman, Robert, Gladman, Dafna, Munn, Alexandra, Yazdani, Ramin, Pellett, Fawnda, Hamilton, Sean, O’Rielly, Darren D, Rahman, Proton
Published in BMC Genetics (2013)

UGT2B17 copy number gain in a large ankylosing spondylitis multiplex family

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

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

by Pater, Justin A., Penney, Cindy, O’Rielly, Darren D., Griffin, Anne, Kamal, Lara, Brownstein, Zippora, Vona, Barbara, Vinkler, Chana, Shohat, Mordechai, Barel, Ortal, Young, Terry-Lynn
Published in Human Genetics (2022)

The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate

by Green, Jane S., O’Rielly, Darren D., Pater, Justin A., Houston, Jim, Rajabi, Hoda, Galutira, Dante, Benteau, Tammy, Sheaves, Amy, Abdelfatah, Nelly, Bautista, Donna, Whelan, Jim, Young, Terry-Lynn
Published in European Journal of Human Genetics (2020)

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

by 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
Published in Human Genetics (2016)

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

by 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
Published in Human Genetics (2017)

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

by 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.
Published in Molecular Genetics & Genomic Medicine (2019)

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

by 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.
Published in Molecular Genetics & Genomic Medicine (2019)

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

by 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
Published in Molecular Genetics & Genomic Medicine (2020)