Publications:

Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.

European Journal Of Human Genetics : Ejhg

Doucette, Lance P LP; Noel, Nicole C L NCL; Zhai, Yi Y; Xu, Manlong M; Caluseriu, Oana O; Hoang, Stephanie C SC; Radziwon, Alina J AJ; MacDonald, Ian M IM

Publication Date: 2021-08

Variant appearance in text: CR1L: 1490G>A; Gly497Glu; rs186427145

PubMed Link: 33776059

Variant Present in the following documents:

• 41431_2021_872_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.

European Journal Of Human Genetics : Ejhg

Doucette, Lance P LP; Noel, Nicole C L NCL; Zhai, Yi Y; Xu, Manlong M; Caluseriu, Oana O; Hoang, Stephanie C SC; Radziwon, Alina J AJ; MacDonald, Ian M IM

Publication Date: 2021-08

Variant appearance in text: CR1L: 1490G>A; Gly497Glu; rs186427145

PubMed Link: 33776059

Variant Present in the following documents:

• 41431_2021_872_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: CR1L: G497E; rs186427145

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: CR1L: G497E; rs186427145

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 7

View BVdb publication page

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: CR1L: G497E

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page