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The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, Beck CR, Shaw CJ, Stankiewicz P, Moretti P, Goodwin WE, Hein N, Fink JK, Seong MW, Seo SH, Park SS, Karbassi ID, Batish SD, Ordóñez-Ugalde A, Quintáns B, Sobrido MJ, Stemmler S, Lupski JR. Boone PM, et al. Among authors: yuan b. Am J Hum Genet. 2014 Aug 7;95(2):143-61. doi: 10.1016/j.ajhg.2014.06.014. Epub 2014 Jul 24. Am J Hum Genet. 2014. PMID: 25065914 Free PMC article.
Analysis of the ABCA4 genomic locus in Stargardt disease.
Zernant J, Xie YA, Ayuso C, Riveiro-Alvarez R, Lopez-Martinez MA, Simonelli F, Testa F, Gorin MB, Strom SP, Bertelsen M, Rosenberg T, Boone PM, Yuan B, Ayyagari R, Nagy PL, Tsang SH, Gouras P, Collison FT, Lupski JR, Fishman GA, Allikmets R. Zernant J, et al. Among authors: yuan b. Hum Mol Genet. 2014 Dec 20;23(25):6797-806. doi: 10.1093/hmg/ddu396. Epub 2014 Jul 31. Hum Mol Genet. 2014. PMID: 25082829 Free PMC article.
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.
Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, Nagamani SC, Erez A, Bartnik M, Wiśniowiecka-Kowalnik B, Plunkett KS, Pursley AN, Kang SH, Bi W, Lalani SR, Bacino CA, Vast M, Marks K, Patton M, Olofsson P, Patel A, Veltman JA, Cheung SW, Shaw CA, Vissers LE, Vermeesch JR, Lupski JR, Stankiewicz P. Campbell IM, et al. Among authors: yuan b. Am J Hum Genet. 2014 Aug 7;95(2):173-82. doi: 10.1016/j.ajhg.2014.07.003. Epub 2014 Jul 31. Am J Hum Genet. 2014. PMID: 25087610 Free PMC article.
New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.
Riveiro-Álvarez R, Xie YA, López-Martínez MÁ, Gambin T, Pérez-Carro R, Ávila-Fernández A, López-Molina MI, Zernant J, Jhangiani S, Muzny D, Yuan B, Boerwinkle E, Gibbs R, Lupski JR, Ayuso C, Allikmets R. Riveiro-Álvarez R, et al. Among authors: yuan b. JAMA Ophthalmol. 2015 Feb;133(2):133-9. doi: 10.1001/jamaophthalmol.2014.4266. JAMA Ophthalmol. 2015. PMID: 25356532 Free PMC article.
Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations.
Lodish MB, Yuan B, Levy I, Braunstein GD, Lyssikatos C, Salpea P, Szarek E, Karageorgiadis AS, Belyavskaya E, Raygada M, Faucz FR, Izzat L, Brain C, Gardner J, Quezado M, Carney JA, Lupski JR, Stratakis CA. Lodish MB, et al. Among authors: yuan b. Eur J Endocrinol. 2015 Jun;172(6):803-11. doi: 10.1530/EJE-14-1154. Eur J Endocrinol. 2015. PMID: 25924874 Free PMC article.
3,469 results