Publications:

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Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population.

Cell Genomics

Belkadi, Aziz A; Thareja, Gaurav G; Abbaszadeh, Fatemeh F; Badii, Ramin R; Fauman, Eric E; Albagha, Omar M E OME; , ; Suhre, Karsten K

Publication Date: 2023-01-11

Variant appearance in text: CFHR5: Gly145Glu; rs57960694

PubMed Link: 36777185

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

View BVdb publication page

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: CFHR5: G145E; rs57960694

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Genetic variation in genes of inborn errors of immunity in children with unexplained encephalitis.

Genes And Immunity

Malik, Devesh D; Simon, Dennis W DW; Thakkar, Kavita K; Rajan, Deepa S DS; Kernan, Kate F KF

Publication Date: 2022-11

Variant appearance in text: CFHR5: Gly145Glu

PubMed Link: 36198812

Variant Present in the following documents:

• Main text
• 41435_2022_Article_185.pdf

View BVdb publication page

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Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.

Journal Of Clinical Immunology

Kernan, Kate F KF; Ghaloul-Gonzalez, Lina L; Vockley, Jerry J; Lamb, Janette J; Hollingshead, Deborah D; Chandran, Uma U; Sethi, Rahil R; Park, Hyun-Jung HJ; Berg, Robert A RA; Wessel, David D; Pollack, Murray M MM; Meert, Kathleen L KL; Hall, Mark W MW; Newth, Christopher J L CJL; Lin, John C JC; Doctor, Allan A; Shanley, Tom T; Cornell, Tim T; Harrison, Rick E RE; Zuppa, Athena F AF; Banks, Russel R; Reeder, Ron W RW; Holubkov, Richard R; Notterman, Daniel A DA; Dean, J Michael JM; Carcillo, Joseph A JA

Publication Date: 2022-02

Variant appearance in text: CFHR5: 434G>A; Gly145Glu

PubMed Link: 34973142

Variant Present in the following documents:

• Main text
• 10875_2021_1183_MOESM7_ESM.xlsx, sheet 1
• 10875_2021_Article_1183.pdf

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: CFHR5: 434G>A; Gly145Glu; rs57960694

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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A haplotype in CFH family genes confers high risk of rare glomerular nephropathies.

Scientific Reports

Ding, Yin Y; Zhao, Weiwei W; Zhang, Tao T; Qiang, Hao H; Lu, Jianping J; Su, Xin X; Wen, Shuzhen S; Xu, Feng F; Zhang, Mingchao M; Zhang, Haitao H; Zeng, Caihong C; Liu, Zhihong Z; Chen, Huimei H

Publication Date: 2017-07-20

Variant appearance in text: rs57960694

PubMed Link: 28729648

Variant Present in the following documents:

• Main text
• 41598_2017_5173_MOESM1_ESM.pdf
• 41598_2017_Article_5173.pdf

View BVdb publication page

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Rare Variants in the Complement Factor H-Related Protein 5 Gene Contribute to Genetic Susceptibility to IgA Nephropathy.

Journal Of The American Society Of Nephrology : Jasn

Zhai, Ya-Ling YL; Meng, Si-Jun SJ; Zhu, Li L; Shi, Su-Fang SF; Wang, Su-Xia SX; Liu, Li-Jun LJ; Lv, Ji-Cheng JC; Yu, Feng F; Zhao, Ming-Hui MH; Zhang, Hong H

Publication Date: 2016-09

Variant appearance in text: CFHR5: 434G>A; Gly145Glu; rs57960694

PubMed Link: 26825529

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: CFHR5: G145E; rs57960694

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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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: CFHR5: G145E; rs57960694

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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