✦ LIBER ✦

Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration

✍ Scribed by Yu, Y.; Triebwasser, M. P.; Wong, E. K. S.; Schramm, E. C.; Thomas, B.; Reynolds, R.; Mardis, E. R.; Atkinson, J. P.; Daly, M.; Raychaudhuri, S.; Kavanagh, D.; Seddon, J. M.

Book ID: 124152601
Publisher: Oxford University Press
Year: 2014
Tongue: English
Weight: 641 KB
Volume: 23
Category: Article
ISSN: 0964-6906
DOI: 10.1093/hmg/ddu226

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Whole-Exome Sequencing Identifies Rare a

Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

✍ Lange, Leslie A.; Hu, Youna; Zhang, He; Xue, Chenyi; Schmidt, Ellen M.; Tang, Zh 📂 Article 📅 2014 🏛 American Society of Human Genetics 🌐 English ⚖ 720 KB

Whole-exome sequencing identifies rare p

Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer

✍ Esteban-Jurado, Clara; Vila-Casadesús, Maria; Garre, Pilar; Lozano, Juan José; P 📂 Article 📅 2014 🏛 Nature Publishing Group 🌐 English ⚖ 571 KB

Whole exome sequencing identifies three

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome

✍ Bayram, Yavuz; Pehlivan, Davut; Karaca, Ender; Gambin, Tomasz; Jhangiani, Shalin 📂 Article 📅 2014 🏛 John Wiley and Sons 🌐 English ⚖ 262 KB

Whole Exome Sequencing of Distant Relati

Whole Exome Sequencing of Distant Relatives in Multiplex Families Implicates Rare Variants in Candidate Genes for Oral Clefts

✍ Bureau, A.; Parker, M. M.; Ruczinski, I.; Taub, M. A.; Marazita, M. L.; Murray, 📂 Article 📅 2014 🏛 The Genetics Society of America 🌐 English ⚖ 137 KB

Exome Sequencing Identifies a Novel Vari

Exome Sequencing Identifies a Novel Variant in ACTC1 Associated With Familial Atrial Septal Defect

✍ Greenway, Steven C.; McLeod, Ross; Hume, Stacey; Roslin, Nicole M.; Alvarez, Nan 📂 Article 📅 2014 🏛 Pulsus Group Inc 🌐 English ⚖ 619 KB

Linkage Mapping and Whole Exome Sequenci

Linkage Mapping and Whole Exome Sequencing Identify a Shared Variant in CX3CR1 in a Large Multi-Generation Family

✍ Feldman, George J.; Parvizi, Javad; Sawan, Hind; Erickson, Jill A.; Peters, Chri 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 675 KB