Publications:

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Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.

Ophthalmology Science

Seddon, Johanna M JM; Rosner, Bernard B; De, Dikha D; Huan, Tianxiao T; Java, Anuja A; Atkinson, John J

Publication Date: 2023-06

Variant appearance in text: CFI: R317W

PubMed Link: 36909148

Variant Present in the following documents:

• mmc1.pdf

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Complement Factor I Variants in Complement-Mediated Renal Diseases.

Frontiers In Immunology

Zhang, Yuzhou Y; Goodfellow, Renee X RX; Ghiringhelli Borsa, Nicolo N; Dunlop, Hannah C HC; Presti, Stephen A SA; Meyer, Nicole C NC; Shao, Dingwu D; Roberts, Sarah M SM; Jones, Michael B MB; Pitcher, Gabriella R GR; Taylor, Amanda O AO; Nester, Carla M CM; Smith, Richard J H RJH

Publication Date: 2022

Variant appearance in text: CFI: 949C>T; Arg317Trp

PubMed Link: 35619721

Variant Present in the following documents:

• Main text
• fimmu-13-866330.pdf

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Complement-Amplifying Conditions in Atypical Hemolytic Uremic Syndrome: A Canadian Case Series.

Canadian Journal Of Kidney Health And Disease

Patriquin, Christopher J CJ; Pavenski, Katerina K; Garland, Jocelyn J; Girard, Louis-Philippe LP; Isenring, Paul P

Publication Date: 2022

Variant appearance in text: CFI: 949C>T; Arg317Trp

PubMed Link: 35615072

Variant Present in the following documents:

• Main text
• 10.1177_20543581221100288.pdf

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Risk of Atypical HUS Among Family Members of Patients Carrying Complement Regulatory Gene Abnormality.

Kidney International Reports

Ardissino, Gianluigi G; Longhi, Selena S; Porcaro, Luigi L; Pintarelli, Giulia G; Strumbo, Bice B; Capone, Valentina V; Cresseri, Donata D; Loffredo, Giulia G; Tel, Francesca F; Salardi, Stefania S; Sgarbanti, Martina M; Martelli, Laura L; Rodrigues, Evangeline Millicent EM; Borsa-Ghiringhelli, Nicolò N; Montini, Giovanni G; Seia, Manuela M; Cugno, Massimo M; Carfagna, Fabio F; Consonni, Dario D; Tedeschi, Silvana S

Publication Date: 2021-06

Variant appearance in text: CFI: 949C>T; Arg317Trp

PubMed Link: 34169201

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Functional Analysis of Rare Genetic Variants in Complement Factor I (CFI) using a Serum-Based Assay in Advanced Age-related Macular Degeneration.

Translational Vision Science & Technology

Java, Anuja A; Baciu, Peter P; Widjajahakim, Rafael R; Sung, Yun Ju YJ; Yang, Jae J; Kavanagh, David D; Atkinson, John J; Seddon, Johanna J

Publication Date: 2020-08

Variant appearance in text: CFI: R317W

PubMed Link: 32908800

Variant Present in the following documents:

• Main text
• tvst-9-9-37.pdf

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Effect of rare coding variants in the CFI gene on Factor I expression levels.

Human Molecular Genetics

de Jong, Sarah S; Volokhina, Elena B EB; de Breuk, Anita A; Nilsson, Sara C SC; de Jong, Eiko K EK; van der Kar, Nicole C A J NCAJ; Bakker, Bjorn B; Hoyng, Carel B CB; van den Heuvel, Lambert P LP; Blom, Anna M AM; den Hollander, Anneke I AI

Publication Date: 2020-08-11

Variant appearance in text: CFI: Arg317Trp; rs121964917

PubMed Link: 32510551

Variant Present in the following documents:

• Main text
• ddaa114.pdf
• supp_table_1_ddaa114.xlsx, sheet 1

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Rare Functional Variants in Complement Genes and Anti-FH Autoantibodies-Associated aHUS.

Frontiers In Immunology

Valoti, Elisabetta E; Alberti, Marta M; Iatropoulos, Paraskevas P; Piras, Rossella R; Mele, Caterina C; Breno, Matteo M; Cremaschi, Alessandra A; Bresin, Elena E; Donadelli, Roberta R; Alizzi, Silvia S; Amoroso, Antonio A; Benigni, Ariela A; Remuzzi, Giuseppe G; Noris, Marina M

Publication Date: 2019

Variant appearance in text: CFI: Arg317Trp; rs121964917

PubMed Link: 31118930

Variant Present in the following documents:

• Main text
• fimmu-10-00853.pdf

View BVdb publication page

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Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine

Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA

Publication Date: 2017-05-24

Variant appearance in text: CFI: R317W

PubMed Link: 28539123

Variant Present in the following documents:

• 13073_2017_434_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: CFI: R317W

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CFI: R317W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs121964917

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels.

Human Molecular Genetics

Kavanagh, David D; Yu, Yi Y; Schramm, Elizabeth C EC; Triebwasser, Michael M; Wagner, Erin K EK; Raychaudhuri, Soumya S; Daly, Mark J MJ; Atkinson, John P JP; Seddon, Johanna M JM

Publication Date: 2015-07-01

Variant appearance in text: CFI: R317W; rs121964917

PubMed Link: 25788521

Variant Present in the following documents:

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: CFI: R317W; rs121964917

PubMed Link: 24036952

Variant Present in the following documents:

• Main text
• nihms-512112.pdf
• NIHMS512112-supplement-1.pdf

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The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: CFI: 949C>T; R317W; rs121964917

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1

View BVdb publication page

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Mutations of complement factor I and potential mechanisms of neuroinflammation in acute hemorrhagic leukoencephalitis.

Journal Of Clinical Immunology

Broderick, Lori L; Gandhi, Chhavi C; Mueller, James L JL; Putnam, Christopher D CD; Shayan, Katayoon K; Giclas, Patricia C PC; Peterson, Karin S KS; Aceves, Seema S SS; Sheets, Robert M RM; Peterson, Bradley M BM; Newbury, Robert O RO; Hoffman, Hal M HM; Bastian, John F JF

Publication Date: 2013-01

Variant appearance in text: CFI: R317W

PubMed Link: 22926405

Variant Present in the following documents:

• Main text

View BVdb publication page

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