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Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH, Bylstra Y, Teo JX, Kuan JL, Bertin N, Gonzalez-Porta M, Hebrard M, Tirado-Magallanes R, Tan JHJ, Jeyakani J, Li Z, Chai JF, Chong YS, Davila S, Goh LL, Lee ES, Wong E, Wong TY; SG10K_Health Consortium; Prabhakar S, Liu J, Cheng CY, Eisenhaber B, Karnani N, Leong KP, Sim X, Yeo KK, Chambers JC, Tai ES, Tan P, Jamuar SS, Ngeow J, Lim WK. Chan SH, et al. Among authors: jamuar ss. Nat Commun. 2022 Nov 5;13(1):6694. doi: 10.1038/s41467-022-34116-9. Nat Commun. 2022. PMID: 36335097 Free PMC article.
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E, Monroe GR, Lai A, Putoux A, Allias F, Ambusaidi Q, Ambrozaityte L, Cimbalistienė L, Delafontaine J, Guex N, Hashem M, Kurdi W, Jamuar SS, Ying LJ, Bonnard C, Pippucci T, Pradervand S, Roechert B, van Hasselt PM, Wiederkehr M, Wright CF; DDD Study; Xenarios I, van Haaften G, Shaw-Smith C, Schindewolf EM, Neerman-Arbez M, Sanlaville D, Lesca G, Guibaud L, Reversade B, Chelly J, Kučinskas V, Alkuraya FS, Reymond A. Gueneau L, et al. Among authors: jamuar ss. Am J Hum Genet. 2018 Jan 4;102(1):116-132. doi: 10.1016/j.ajhg.2017.12.002. Epub 2017 Dec 28. Am J Hum Genet. 2018. PMID: 29290337 Free PMC article.
Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype.
Jamuar SS, Duzkale H, Duzkale N, Zhang C, High FA, Kaban L, Bhattacharya S, Crandall B, Kantarci S, Stoler JM, Lin AE. Jamuar SS, et al. Am J Med Genet A. 2015 Jun;167(6):1400-5. doi: 10.1002/ajmg.a.36848. Epub 2015 Apr 2. Am J Med Genet A. 2015. PMID: 25846266 No abstract available.
90 results