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Xinye Qian
Researcher at Baylor College of Medicine
Publications - 2
Citations - 32
Xinye Qian is an academic researcher from Baylor College of Medicine. The author has contributed to research in topics: Minigene & Dystrophy. The author has an hindex of 1, co-authored 2 publications receiving 6 citations.
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Journal ArticleDOI
Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases.
Xinye Qian,Jun Wang,Meng Wang,Austin D. Igelman,Kaylie D. Jones,Yumei Li,Keqing Wang,Kerry Goetz,David G. Birch,Paul Yang,Mark E. Pennesi,Rui Chen +11 more
TL;DR: In this paper, the authors investigated the contribution of deep-intronic splice variants to inherited retinal disorders (IRDs) using whole-genome sequencing (WGS) for a cohort of 571 IRD patients who lack a confident molecular diagnosis.
Journal ArticleDOI
Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.
Renae Elaine Bertrand,Jun Wang,Kaitlyn H. Xiong,Kaitlyn H. Xiong,Chinthana Thangavel,Chinthana Thangavel,Xinye Qian,Rola Ba-Abbad,Qingnan Liang,Renata T Simões,Shirley Aparecida Madureira Sampaio,Keren J. Carss,F. Lucy Raymond,Anthony G. Robson,Andrew R. Webster,Andrew R. Webster,Gavin Arno,Gavin Arno,Gavin Arno,Fernanda Belga Ottoni Porto,Rui Chen +20 more
TL;DR: Establishment of the Tlcd3b knockout murine model, the first in vivo photoreceptor cell degeneration model due to loss of a ceramide synthase, will provide a unique opportunity in probing the role of ceramide in survival and function ofPhotoreceptor cells.