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The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
Liu J, Zhou Y, Liu S, Song X, Yang XZ, Fan Y, Chen W, Akdemir ZC, Yan Z, Zuo Y, Du R, Liu Z, Yuan B, Zhao S, Liu G, Chen Y, Zhao Y, Lin M, Zhu Q, Niu Y, Liu P, Ikegawa S, Song YQ, Posey JE, Qiu G; DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) Study; Zhang F, Wu Z, Lupski JR, Wu N. Liu J, et al. Among authors: song x, song yq. Hum Genet. 2018 Jul;137(6-7):553-567. doi: 10.1007/s00439-018-1910-3. Epub 2018 Jul 17. Hum Genet. 2018. PMID: 30019117 Free PMC article.
Phenotypic expansion illuminates multilocus pathogenic variation.
Karaca E, Posey JE, Coban Akdemir Z, Pehlivan D, Harel T, Jhangiani SN, Bayram Y, Song X, Bahrambeigi V, Yuregir OO, Bozdogan S, Yesil G, Isikay S, Muzny D, Gibbs RA, Lupski JR. Karaca E, et al. Among authors: song x. Genet Med. 2018 Dec;20(12):1528-1537. doi: 10.1038/gim.2018.33. Epub 2018 Apr 26. Genet Med. 2018. PMID: 29790871 Free PMC article.
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles.
Coban-Akdemir Z, White JJ, Song X, Jhangiani SN, Fatih JM, Gambin T, Bayram Y, Chinn IK, Karaca E, Punetha J, Poli C; Baylor-Hopkins Center for Mendelian Genomics; Boerwinkle E, Shaw CA, Orange JS, Gibbs RA, Lappalainen T, Lupski JR, Carvalho CMB. Coban-Akdemir Z, et al. Among authors: song x. Am J Hum Genet. 2018 Aug 2;103(2):171-187. doi: 10.1016/j.ajhg.2018.06.009. Epub 2018 Jul 19. Am J Hum Genet. 2018. PMID: 30032986 Free PMC article.
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
Du R, Dinckan N, Song X, Coban-Akdemir Z, Jhangiani SN, Guven Y, Aktoren O, Kayserili H, Petty LE, Muzny DM, Below JE, Boerwinkle E, Wu N, Gibbs RA, Posey JE, Lupski JR, Letra A, Uyguner ZO. Du R, et al. Among authors: song x. Hum Genet. 2018 Sep;137(9):689-703. doi: 10.1007/s00439-018-1907-y. Epub 2018 Jul 26. Hum Genet. 2018. PMID: 30046887 Free PMC article.
A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.
Lumaka A, Race V, Peeters H, Corveleyn A, Coban-Akdemir Z, Jhangiani SN, Song X, Mubungu G, Posey J, Lupski JR, Vermeesch JR, Lukusa P, Devriendt K. Lumaka A, et al. Among authors: song x. Am J Med Genet A. 2018 Sep;176(9):1897-1909. doi: 10.1002/ajmg.a.40382. Epub 2018 Aug 8. Am J Med Genet A. 2018. PMID: 30088852 Free PMC article.
Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral-basilar artery dissection (IVAD).
Wang K, Zhao S, Zhang Q, Yuan J, Liu J, Ding X, Song X, Lin J, Du R, Zhou Y, Sugimoto M, Chen W, Yuan B, Liu J, Yan Z, Liu B, Zhang Y, Li X, Niu Y, Long B, Shen Y, Zhang S, Abe K, Su J, Wu Z, Wu N, Liu P, Yang X; Deciphering Disorders Involving Scoliosis & Comorbidities (DISCO) study. Wang K, et al. Among authors: song x. J Hum Genet. 2018 Nov;63(11):1119-1128. doi: 10.1038/s10038-018-0496-x. Epub 2018 Aug 16. J Hum Genet. 2018. PMID: 30115950
Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM).
Wang K, Zhao S, Liu B, Zhang Q, Li Y, Liu J, Shen Y, Ding X, Lin J, Wu Y, Yan Z, Chen J, Li X, Song X, Niu Y, Liu J, Chen W, Ming Y, Du R, Chen C, Long B, Zhang Y, Tong X, Zhang S, Posey JE, Zhang B, Wu Z, Wythe JD, Liu P, Lupski JR, Yang X, Wu N. Wang K, et al. Among authors: song x. J Med Genet. 2018 Oct;55(10):675-684. doi: 10.1136/jmedgenet-2017-105224. Epub 2018 Aug 17. J Med Genet. 2018. PMID: 30120215 Free PMC article.
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L; DDD Study; Abid F, Bertuch AA, Grange D, Immken L, Schaaf CP, Van Esch H, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P. Yuan B, et al. Among authors: song x. Genet Med. 2019 Mar;21(3):663-675. doi: 10.1038/s41436-018-0085-6. Epub 2018 Aug 30. Genet Med. 2019. PMID: 30158690 Free PMC article.
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.
Morimoto M, Waller-Evans H, Ammous Z, Song X, Strauss KA, Pehlivan D, Gonzaga-Jauregui C, Puffenberger EG, Holst CR, Karaca E, Brigatti KW, Maguire E, Coban-Akdemir ZH, Amagata A, Lau CC, Chepa-Lotrea X, Macnamara E, Tos T, Isikay S, Nehrebecky M, Overton JD, Klein M, Markello TC, Posey JE, Adams DR, Lloyd-Evans E, Lupski JR, Gahl WA, Malicdan MCV. Morimoto M, et al. Among authors: song x. Am J Hum Genet. 2018 Nov 1;103(5):794-807. doi: 10.1016/j.ajhg.2018.09.014. Epub 2018 Oct 25. Am J Hum Genet. 2018. PMID: 30401460 Free PMC article.
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