Advantage of whole exome sequencing over allele-specific and targeted segment sequencing in detection of novel TULP1 mutation in leber congenital amaurosis

Yiran Guo, Ivan Prokudin, Cong Yu, Jinlong Liang, Yi Xie, Maree Flaherty, Lifeng Tian, Stephanie Crofts, Fengxiang Wang, James Snyder, Craig Donaldson, Nada Abdel-Magid, Lyam Vazquez, Brendan Keating, Hakon Hakonarson, Jun Wang, Robyn V. Jamieson*

*Corresponding author for this work
9 Citations (Scopus)

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Medicine & Life Sciences