Publications

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Journal Article
Yuan Z, Li B, Xu M, Chang EY, Li H, Yang L, Wu S, Soens ZT, Li Y, Wong L-JC, Lewis RA, Sui R, Chen R. The phenotypic variability of HK1-associated retinal dystrophy. Sci Rep. 2017 ;7(1):7051.
Xu M, Xie YAngela, Abouzeid H, Gordon CT, Fiorentino A, Sun Z, Lehman A, Osman IS, Dharmat R, Riveiro-Álvarez R, Bapst-Wicht L, Babino D, Arno G, Busetto V, Zhao L, Li H, Lopez-Martinez MA, Azevedo LF, Hubert L, Pontikos N, Eblimit A, Lorda-Sanchez I, Kheir V, Plagnol V, Oufadem M, Soens ZT, Yang L, Bole-Feysot C, Pfundt R, Allaman-Pillet N, Nitschké P, Cheetham ME, Lyonnet S, Agrawal SA, Li H, Pinton G, Michaelides M, Besmond C, Li Y, Yuan Z, von Lintig J, Webster AR, Le Hir H, Stoilov P, Amiel J, Hardcastle AJ, Ayuso C, Sui R, Chen R, Allikmets R, Schorderet DF. Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. Am J Hum Genet. 2017 ;100(4):592-604.
Porto FBO, Jones EM, Branch J, Soens ZT, Maia IMendes, Sena IFG, Sampaio SAM, Simões RT, Chen R. Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. Genes (Basel). 2017 ;8(12).
Soens ZT, Branch J, Wu S, Yuan Z, Li Y, Li H, Wang K, Xu M, Rajan L, Motta FL, Simões RT, Lopez-Solache I, Ajlan R, Birch DG, Zhao P, Porto FB, Sallum J, Koenekoop RK, Sui R, Chen R. Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance. Hum Mutat. 2017 ;38(11):1521-1533.
Zhao L, Chen Y, Bajaj AOnkar, Eblimit A, Xu M, Soens ZT, Wang F, Ge Z, Jung SYun, He F, Li Y, Wensel TG, Qin J, Chen R. Integrative subcellular proteomic analysis allows accurate prediction of human disease-causing genes. Genome Res. 2016 ;26(5):660-9.
Boone PM, Soens ZT, Campbell IM, Stankiewicz P, Cheung SWai, Patel A, Beaudet AL, Plon SE, Shaw CA, McGuire AL, Lupski JR. Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med. 2013 ;15(1):45-54.
Soens ZT, Li Y, Zhao L, Eblimit A, Dharmat R, Li Y, Chen Y, Naqeeb M, Fajardo N, Lopez I, Sun Z, Koenekoop RK, Chen R. Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. Genet Med. 2016 ;18(10):1044-51.
Wang J, Zhao L, Wang X, Chen Y, Xu M, Soens ZT, Ge Z, Wang PRonghan, Wang F, Chen R. GRIPT: a novel case-control analysis method for Mendelian disease gene discovery. Genome Biol. 2018 ;19(1):203.
Boone PM, Campbell IM, Baggett BC, Soens ZT, Rao MM, Hixson PM, Patel A, Bi W, Cheung SWai, Lalani SR, Beaudet AL, Stankiewicz P, Shaw CA, Lupski JR. Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res. 2013 ;23(9):1383-94.