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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 1
1996 1
2000 2
2001 2
2002 1
2006 1
2008 3
2009 1
2010 3
2011 3
2012 4
2013 7
2014 3
2015 3
2016 2
2017 7
2018 10
2019 11
2020 7
2021 6
2022 4
2023 6

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77 results

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Page 1
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: sondheimer n. Cell. 2022 Nov 10;185(23):4409-4427.e18. doi: 10.1016/j.cell.2022.10.009. Cell. 2022. PMID: 36368308 Free article.
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
McCormick EM, Lott MT, Dulik MC, Shen L, Attimonelli M, Vitale O, Karaa A, Bai R, Pineda-Alvarez DE, Singh LN, Stanley CM, Wong S, Bhardwaj A, Merkurjev D, Mao R, Sondheimer N, Zhang S, Procaccio V, Wallace DC, Gai X, Falk MJ. McCormick EM, et al. Among authors: sondheimer n. Hum Mutat. 2020 Dec;41(12):2028-2057. doi: 10.1002/humu.24107. Epub 2020 Nov 10. Hum Mutat. 2020. PMID: 32906214 Free PMC article.
Reply.
Sondheimer N, Kaufman B, Picard M. Sondheimer N, et al. Environ Mol Mutagen. 2019 Jun;60(5):465. doi: 10.1002/em.22181. Epub 2018 Mar 14. Environ Mol Mutagen. 2019. PMID: 29536566 No abstract available.
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: sondheimer n. 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.
Mitochondrial genetic diseases.
Falk MJ, Sondheimer N. Falk MJ, et al. Among authors: sondheimer n. Curr Opin Pediatr. 2010 Dec;22(6):711-6. doi: 10.1097/MOP.0b013e3283402e21. Curr Opin Pediatr. 2010. PMID: 21045694 Free PMC article. Review.
Nuclear genome-wide associations with mitochondrial heteroplasmy.
Nandakumar P, Tian C, O'Connell J; 23andMe Research Team; Hinds D, Paterson AD, Sondheimer N. Nandakumar P, et al. Among authors: sondheimer n. Sci Adv. 2021 Mar 17;7(12):eabe7520. doi: 10.1126/sciadv.abe7520. Print 2021 Mar. Sci Adv. 2021. PMID: 33731350 Free PMC article.
The mitochondrial genome of Cavia aperea.
Wahedi A, Günther A, Weyrich A, Sondheimer N. Wahedi A, et al. Among authors: sondheimer n. Mitochondrial DNA B Resour. 2020 May 22;5(3):2147-2148. doi: 10.1080/23802359.2020.1768918. Mitochondrial DNA B Resour. 2020. PMID: 33457761 Free PMC article.
Mitochondrial DNA, nuclear context, and the risk for carcinogenesis.
Kaufman BA, Picard M, Sondheimer N. Kaufman BA, et al. Among authors: sondheimer n. Environ Mol Mutagen. 2019 Jun;60(5):455-462. doi: 10.1002/em.22169. Epub 2018 Jan 14. Environ Mol Mutagen. 2019. PMID: 29332303 Free PMC article. Review.
77 results