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Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.
Lesurf R, Said A, Akinrinade O, Breckpot J, Delfosse K, Liu T, Yao R, Persad G, McKenna F, Noche RR, Oliveros W, Mattioli K, Shah S, Miron A, Yang Q, Meng G, Yue MCS, Sung WWL, Thiruvahindrapuram B, Lougheed J, Oechslin E, Mondal T, Bergin L, Smythe J, Jayappa S, Rao VJ, Shenthar J, Dhandapany PS, Semsarian C, Weintraub RG, Bagnall RD, Ingles J; Genomics England Research Consortium; Melé M, Maass PG, Ellis J, Scherer SW, Mital S. Lesurf R, et al. Among authors: scherer sw. NPJ Genom Med. 2022 Mar 14;7(1):18. doi: 10.1038/s41525-022-00288-y. NPJ Genom Med. 2022. PMID: 35288587 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: scherer sw. 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.
Clinically relevant copy number variations detected in cerebral palsy.
Oskoui M, Gazzellone MJ, Thiruvahindrapuram B, Zarrei M, Andersen J, Wei J, Wang Z, Wintle RF, Marshall CR, Cohn RD, Weksberg R, Stavropoulos DJ, Fehlings D, Shevell MI, Scherer SW. Oskoui M, et al. Among authors: scherer sw. Nat Commun. 2015 Aug 3;6:7949. doi: 10.1038/ncomms8949. Nat Commun. 2015. PMID: 26236009 Free PMC article.
Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.
Merico D, Zarrei M, Costain G, Ogura L, Alipanahi B, Gazzellone MJ, Butcher NJ, Thiruvahindrapuram B, Nalpathamkalam T, Chow EW, Andrade DM, Frey BJ, Marshall CR, Scherer SW, Bassett AS. Merico D, et al. Among authors: scherer sw. G3 (Bethesda). 2015 Sep 16;5(11):2453-61. doi: 10.1534/g3.115.021345. G3 (Bethesda). 2015. PMID: 26384369 Free PMC article.
Genome-wide characteristics of de novo mutations in autism.
Yuen RK, Merico D, Cao H, Pellecchia G, Alipanahi B, Thiruvahindrapuram B, Tong X, Sun Y, Cao D, Zhang T, Wu X, Jin X, Zhou Z, Liu X, Nalpathamkalam T, Walker S, Howe JL, Wang Z, MacDonald JR, Chan A, D'Abate L, Deneault E, Siu MT, Tammimies K, Uddin M, Zarrei M, Wang M, Li Y, Wang J, Wang J, Yang H, Bookman M, Bingham J, Gross SS, Loy D, Pletcher M, Marshall CR, Anagnostou E, Zwaigenbaum L, Weksberg R, Fernandez BA, Roberts W, Szatmari P, Glazer D, Frey BJ, Ring RH, Xu X, Scherer SW. Yuen RK, et al. Among authors: scherer sw. NPJ Genom Med. 2016 Aug 3;1:160271-1602710. doi: 10.1038/npjgenmed.2016.27. NPJ Genom Med. 2016. PMID: 27525107 Free PMC article.
656 results