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Page 1
High-quality read-based phasing of cystic fibrosis cohort informs genetic understanding of disease modification.
Mastromatteo S, Chen A, Gong J, Lin F, Thiruvahindrapuram B, Sung WWL, Whitney J, Wang Z, Patel RV, Keenan K, Halevy A, Panjwani N, Avolio J, Wang C, Côté-Maurais G, Bégin S, Adam D, Brochiero E, Bjornson C, Chilvers M, Price A, Parkins M, van Wylick R, Mateos-Corral D, Hughes D, Smith MJ, Morrison N, Tullis E, Stephenson AL, Wilcox P, Quon BS, Leung WM, Solomon M, Sun L, Ratjen F, Strug LJ. Mastromatteo S, et al. Among authors: wang z, wang c. HGG Adv. 2022 Oct 20;4(1):100156. doi: 10.1016/j.xhgg.2022.100156. eCollection 2023 Jan 12. HGG Adv. 2022. PMID: 36386424 Free PMC article.
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
Tammimies K, Marshall CR, Walker S, Kaur G, Thiruvahindrapuram B, Lionel AC, Yuen RK, Uddin M, Roberts W, Weksberg R, Woodbury-Smith M, Zwaigenbaum L, Anagnostou E, Wang Z, Wei J, Howe JL, Gazzellone MJ, Lau L, Sung WW, Whitten K, Vardy C, Crosbie V, Tsang B, D'Abate L, Tong WW, Luscombe S, Doyle T, Carter MT, Szatmari P, Stuckless S, Merico D, Stavropoulos DJ, Scherer SW, Fernandez BA. Tammimies K, et al. Among authors: wang z. JAMA. 2015 Sep 1;314(9):895-903. doi: 10.1001/jama.2015.10078. JAMA. 2015. PMID: 26325558
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen RK, Merico D, Bookman M, L Howe J, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S, Marshall CR, Uddin M, Zarrei M, Deneault E, D'Abate L, Chan AJ, Koyanagi S, Paton T, Pereira SL, Hoang N, Engchuan W, Higginbotham EJ, Ho K, Lamoureux S, Li W, MacDonald JR, Nalpathamkalam T, Sung WW, Tsoi FJ, Wei J, Xu L, Tasse AM, Kirby E, Van Etten W, Twigger S, Roberts W, Drmic I, Jilderda S, Modi BM, Kellam B, Szego M, Cytrynbaum C, Weksberg R, Zwaigenbaum L, Woodbury-Smith M, Brian J, Senman L, Iaboni A, Doyle-Thomas K, Thompson A, Chrysler C, Leef J, Savion-Lemieux T, Smith IM, Liu X, Nicolson R, Seifer V, Fedele A, Cook EH, Dager S, Estes A, Gallagher L, Malow BA, Parr JR, Spence SJ, Vorstman J, Frey BJ, Robinson JT, Strug LJ, Fernandez BA, Elsabbagh M, Carter MT, Hallmayer J, Knoppers BM, Anagnostou E, Szatmari P, Ring RH, Glazer D, Pletcher MT, Scherer SW. C Yuen RK, et al. Among authors: wang z. Nat Neurosci. 2017 Apr;20(4):602-611. doi: 10.1038/nn.4524. Epub 2017 Mar 6. Nat Neurosci. 2017. PMID: 28263302 Free PMC article.
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR. Lionel AC, et al. Among authors: wang z. Genet Med. 2018 Apr;20(4):435-443. doi: 10.1038/gim.2017.119. Epub 2017 Aug 3. Genet Med. 2018. PMID: 28771251 Free PMC article.
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data.
Trost B, Walker S, Wang Z, Thiruvahindrapuram B, MacDonald JR, Sung WWL, Pereira SL, Whitney J, Chan AJS, Pellecchia G, Reuter MS, Lok S, Yuen RKC, Marshall CR, Merico D, Scherer SW. Trost B, et al. Among authors: wang z. Am J Hum Genet. 2018 Jan 4;102(1):142-155. doi: 10.1016/j.ajhg.2017.12.007. Am J Hum Genet. 2018. PMID: 29304372 Free PMC article.
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.
Reuter MS, Walker S, Thiruvahindrapuram B, Whitney J, Cohn I, Sondheimer N, Yuen RKC, Trost B, Paton TA, Pereira SL, Herbrick JA, Wintle RF, Merico D, Howe J, MacDonald JR, Lu C, Nalpathamkalam T, Sung WWL, Wang Z, Patel RV, Pellecchia G, Wei J, Strug LJ, Bell S, Kellam B, Mahtani MM, Bassett AS, Bombard Y, Weksberg R, Shuman C, Cohn RD, Stavropoulos DJ, Bowdin S, Hildebrandt MR, Wei W, Romm A, Pasceri P, Ellis J, Ray P, Meyn MS, Monfared N, Hosseini SM, Joseph-George AM, Keeley FW, Cook RA, Fiume M, Lee HC, Marshall CR, Davies J, Hazell A, Buchanan JA, Szego MJ, Scherer SW. Reuter MS, et al. Among authors: wang z. CMAJ. 2018 Feb 5;190(5):E126-E136. doi: 10.1503/cmaj.171151. CMAJ. 2018. PMID: 29431110 Free PMC article.
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.
Chan AJS, Engchuan W, Reuter MS, Wang Z, Thiruvahindrapuram B, Trost B, Nalpathamkalam T, Negrijn C, Lamoureux S, Pellecchia G, Patel RV, Sung WWL, MacDonald JR, Howe JL, Vorstman J, Sondheimer N, Takahashi N, Miles JH, Anagnostou E, Tammimies K, Zarrei M, Merico D, Stavropoulos DJ, Yuen RKC, Fernandez BA, Scherer SW. Chan AJS, et al. Among authors: wang z. Nat Commun. 2022 Oct 29;13(1):6463. doi: 10.1038/s41467-022-34112-z. Nat Commun. 2022. PMID: 36309498 Free PMC article.
Genomic architecture of autism from comprehensive whole-genome sequence annotation.
Trost B, Thiruvahindrapuram B, Chan AJS, Engchuan W, Higginbotham EJ, Howe JL, Loureiro LO, Reuter MS, Roshandel D, Whitney J, Zarrei M, Bookman M, Somerville C, Shaath R, Abdi M, Aliyev E, Patel RV, Nalpathamkalam T, Pellecchia G, Hamdan O, Kaur G, Wang Z, MacDonald JR, Wei J, Sung WWL, Lamoureux S, Hoang N, Selvanayagam T, Deflaux N, Geng M, Ghaffari S, Bates J, Young EJ, Ding Q, Shum C, D'Abate L, Bradley CA, Rutherford A, Aguda V, Apresto B, Chen N, Desai S, Du X, Fong MLY, Pullenayegum S, Samler K, Wang T, Ho K, Paton T, Pereira SL, Herbrick JA, Wintle RF, Fuerth J, Noppornpitak J, Ward H, Magee P, Al Baz A, Kajendirarajah U, Kapadia S, Vlasblom J, Valluri M, Green J, Seifer V, Quirbach M, Rennie O, Kelley E, Masjedi N, Lord C, Szego MJ, Zawati MH, Lang M, Strug LJ, Marshall CR, Costain G, Calli K, Iaboni A, Yusuf A, Ambrozewicz P, Gallagher L, Amaral DG, Brian J, Elsabbagh M, Georgiades S, Messinger DS, Ozonoff S, Sebat J, Sjaarda C, Smith IM, Szatmari P, Zwaigenbaum L, Kushki A, Frazier TW, Vorstman JAS, Fakhro KA, Fernandez BA, Lewis MES, Weksberg R, Fiume M, Yuen RKC, Anagnostou E, Sondheimer N, Glazer D, Hartley DM, Scherer SW. Trost B, et al. Among authors: wang z, wang t. Cell. 2022 Nov 10;185(23):4409-4427.e18. doi: 10.1016/j.cell.2022.10.009. Cell. 2022. PMID: 36368308 Free PMC article.
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Gazzellone MJ, Zhou X, Lionel AC, Uddin M, Thiruvahindrapuram B, Liang S, Sun C, Wang J, Zou M, Tammimies K, Walker S, Selvanayagam T, Wei J, Wang Z, Wu L, Scherer SW. Gazzellone MJ, et al. Among authors: wang j, wang z. J Neurodev Disord. 2014;6(1):34. doi: 10.1186/1866-1955-6-34. Epub 2014 Aug 23. J Neurodev Disord. 2014. PMID: 25170348 Free PMC article.
A high-resolution copy-number variation resource for clinical and population genetics.
Uddin M, Thiruvahindrapuram B, Walker S, Wang Z, Hu P, Lamoureux S, Wei J, MacDonald JR, Pellecchia G, Lu C, Lionel AC, Gazzellone MJ, McLaughlin JR, Brown C, Andrulis IL, Knight JA, Herbrick JA, Wintle RF, Ray P, Stavropoulos DJ, Marshall CR, Scherer SW. Uddin M, et al. Among authors: wang z. Genet Med. 2015 Sep;17(9):747-52. doi: 10.1038/gim.2014.178. Epub 2014 Dec 11. Genet Med. 2015. PMID: 25503493 Free PMC article.
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