Search Results - "Werdyani, Salem"

A comprehensive analysis of SNPs and CNVs identifies novel markers associated with disease outcomes in colorectal cancer by Yu, Yajun, Werdyani, Salem, Carey, Megan, Parfrey, Patrick, Yilmaz, Yildiz E., Savas, Sevtap

“…We aimed to examine the associations of a genome‐wide set of single nucleotide polymorphisms (SNPs) and 254 copy number variations (CNVs) and/or…”
Get full text

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, 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

“…Sequencing exomes/genomes have been successful for identifying recessive genes; however, discovery of dominant genes including deafness genes (DFNA) remains…”
Get full text

Metabolomic signatures for the longitudinal reduction of muscle strength over 10 years by Werdyani, Salem, Aitken, Dawn, Gao, Zhiwei, Liu, Ming, Randell, Edward W, Rahman, Proton, Jones, Graeme, Zhai, Guangju

“…Skeletal muscles are essential components of the neuromuscular skeletal system that have an integral role in the structure and function of the synovial joints…”
Get full text

A Survival Association Study of 102 Polymorphisms Previously Associated with Survival Outcomes in Colorectal Cancer by Xu, Wei, Green, Roger, Green, Jane, Dicks, Elizabeth, Shestopaloff, Konstantin, Werdyani, Salem, Xu, Jingxiong, Savas, Sevtap, Parfrey, Patrick

“…Several published studies identified associations of a number of polymorphisms with a variety of survival outcomes in colorectal cancer. In this study, we…”
Get full text

No associations of a set of SNPs in the Vascular Endothelial Growth Factor (VEGF) and Matrix Metalloproteinase (MMP) genes with survival of colorectal cancer patients by Dan, Lydia A., Werdyani, Salem, Xu, Jingxiong, Shestopaloff, Konstantin, Hyde, Angela, Dicks, Elizabeth, Younghusband, Ban, Green, Jane, Parfrey, Patrick, Xu, Wei, Savas, Sevtap

“…In this study, we aimed to investigate the associations of genetic variations within select genes functioning in angiogenesis, lymph‐angiogenesis, and…”
Get full text

Germline INDEL s and CNV s in a cohort of colorectal cancer patients: their characteristics, associations with relapse‐free survival time, and potential time‐varying effects on the risk of relapse by Werdyani, Salem, Yu, Yajun, Skardasi, Georgia, Xu, Jingxiong, Shestopaloff, Konstantin, Xu, Wei, Dicks, Elizabeth, Green, Jane, Parfrey, Patrick, Yilmaz, Yildiz E., Savas, Sevtap

“…Abstract INDEL s and CNV s are structural variations that may play roles in cancer susceptibility and patient outcomes. Our objectives were a) to…”
Get full text

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.

“…Background RAD51C is important in DNA repair and individuals with pathogenic RAD51C variants have increased risk of hereditary breast and ovarian cancer…”
Get full text

Endotypes of primary osteoarthritis identified by plasma metabolomics analysis by Werdyani, Salem, Liu, Ming, Zhang, Hongwei, Sun, Guang, Furey, Andrew, Randell, Edward W, Rahman, Proton, Zhai, Guangju

“…Abstract Objective To identify endotypes of osteoarthritis (OA) by a metabolomics analysis. Methods Study participants included hip/knee OA patients and…”
Get full text

Genetic Variants of the Beta-Adrenergic Receptor Pathways as Both Risk and Protective Factors for Retinopathy of Prematurity by Paradis, Hélène, Werdyani, Salem, Zhai, Guangju, Gendron, Robert L., Tabrizchi, Reza, McGovern, Margaret, Jumper, J. Michael, Brinton, Daniel, Good, William V.

“…There is strong evidence that genetic factors influence retinopathy of prematurity (ROP), a neovascular eye disease. It has been previously suggested that…”
Get full text

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

“…Genotype-phenotype correlations add value to the management of families with hereditary hearing loss (HL), where age-related typical audiograms (ARTAs) are…”
Get full text

Germline INDELs and CNVs in a cohort of colorectal cancer patients: their characteristics, associations with relapse‐free survival time, and potential time‐varying effects on the risk of relapse by Werdyani, Salem, Yu, Yajun, Skardasi, Georgia, Xu, Jingxiong, Shestopaloff, Konstantin, Xu, Wei, Dicks, Elizabeth, Green, Jane, Parfrey, Patrick, Yilmaz, Yildiz E., Savas, Sevtap

“…INDELs and CNVs are structural variations that may play roles in cancer susceptibility and patient outcomes. Our objectives were a) to computationally detect…”
Get full text