Work

Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of NovelTULP1Mutation in Leber Congenital Amaurosis

Year: 2014

Type: article

Study design: Case Report

Source: Ophthalmic Genetics

DOI: 10.3109/13816810.2014.886269

Authors: 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

Institutions: Children's Hospital of Philadelphia, Children's Medical Research Institute, Children's Hospital at Westmead, Westmead Hospital, BGI Group (China), Sichuan University, University of Pennsylvania, University of Copenhagen, King Abdulaziz University, The University of Sydney

Language: English

Topic: Retinal Development and Disorders

Subfield: Ophthalmology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Retina Australia, National Health and Medical Research Council

OpenAlex ID: W2119517913

FWCI: 2.323

Cites: 30

Cited by: 14

Related to: 10