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Clinical Real-Time Genome Sequencing to Solve the Complex and Confounded Presentation of a Child With Focal Segmental Glomerulosclerosis and Multiple Malignancies.
Jain NG, Ahram DF, Marasa M, Rehman AU, May HJ, Zacharoulis S, Revah-Politi A, Florido ME, Whittemore GB, Aggarwal VS, Hargus G, Anyane-Yeboa K, D'Agati VD, Lin F, Jobanputra V, Sanna-Cherchi S. Jain NG, et al. Among authors: anyane yeboa k. Kidney Int Rep. 2022 Aug 7;7(10):2312-2316. doi: 10.1016/j.ekir.2022.07.174. eCollection 2022 Oct. Kidney Int Rep. 2022. PMID: 36217514 Free PMC article. No abstract available.
The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease.
Warburton D, Ronemus M, Kline J, Jobanputra V, Williams I, Anyane-Yeboa K, Chung W, Yu L, Wong N, Awad D, Yu CY, Leotta A, Kendall J, Yamrom B, Lee YH, Wigler M, Levy D. Warburton D, et al. Hum Genet. 2014 Jan;133(1):11-27. doi: 10.1007/s00439-013-1353-9. Epub 2013 Aug 25. Hum Genet. 2014. PMID: 23979609 Free PMC article.
Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.
DeStefano GM, Kurban M, Anyane-Yeboa K, Dall'Armi C, Di Paolo G, Feenstra H, Silverberg N, Rohena L, López-Cepeda LD, Jobanputra V, Fantauzzo KA, Kiuru M, Tadin-Strapps M, Sobrino A, Vitebsky A, Warburton D, Levy B, Salas-Alanis JC, Christiano AM. DeStefano GM, et al. PLoS Genet. 2014 May 15;10(5):e1004333. doi: 10.1371/journal.pgen.1004333. eCollection 2014. PLoS Genet. 2014. PMID: 24831815 Free PMC article.
99 results