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: A240G

PubMed Link: 36909148

Variant Present in the following documents:

• mmc1.pdf

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An assessment of prevalence of Type 1 CFI rare variants in European AMD, and why lack of broader genetic data hinders development of new treatments and healthcare access.

Plos One

Jones, Amy V AV; Curtiss, Darin D; Harris, Claire C; Southerington, Tom T; Hautalahti, Marco M; Wihuri, Pauli P; Mäkelä, Johanna J; Kallionpää, Roosa E RE; Makkonen, Enni E; Knopp, Theresa T; Mannermaa, Arto A; Mäkinen, Erna E; Moilanen, Anne-Mari AM; Tezel, Tongalp H TH; , ; Waheed, Nadia K NK

Publication Date: 2022

Variant appearance in text: CFI: Ala240Gly

PubMed Link: 36067162

Variant Present in the following documents:

• Main text
• pone.0272260.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: 719C>G; Ala240Gly

PubMed Link: 35619721

Variant Present in the following documents:

• Main text
• fimmu-13-866330.pdf

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Rare complement factor I variants associated with reduced macular thickness and age-related macular degeneration in the UK Biobank.

Human Molecular Genetics

Tzoumas, Nikolaos N; Kavanagh, David D; Cordell, Heather J HJ; Lotery, Andrew J AJ; Patel, Praveen J PJ; Steel, David H DH

Publication Date: 2022-08-23

Variant appearance in text: CFI: 719C>G; A240G; rs146444258

PubMed Link: 35285476

Variant Present in the following documents:

• Main text
• supplemental_appendix_1_ddac060.pdf
• supplemental_table_4_ddac060.pdf
• supplemental_table_1_ddac060.pdf
• ddac060.pdf

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Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: CFI: 719C>G; Ala240Gly; rs146444258

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 3
• mmc5.xlsx, sheet 1

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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: A240G

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: Ala240Gly; rs146444258

PubMed Link: 32510551

Variant Present in the following documents:

• supp_table_1_ddaa114.xlsx, sheet 1

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: CFI: 719C>G; Ala240Gly; rs146444258

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Exploring the Use of Molecular Biomarkers for Precision Medicine in Age-Related Macular Degeneration.

Molecular Diagnosis & Therapy

Lorés-Motta, Laura L; de Jong, Eiko K EK; den Hollander, Anneke I AI

Publication Date: 2018-06

Variant appearance in text: CFI: Ala240Gly

PubMed Link: 29700787

Variant Present in the following documents:

• Main text
• 40291_2018_Article_332.pdf

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C3 glomerulonephritis secondary to mutations in factors H and I: rapid recurrence in deceased donor kidney transplant effectively treated with eculizumab.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Garg, Neetika N; Zhang, Yuzhou Y; Nicholson-Weller, Anne A; Khankin, Eliyahu V EV; Borsa, Nicolò Ghiringhelli NG; Meyer, Nicole C NC; McDermott, Susan S; Stillman, Isaac E IE; Rennke, Helmut G HG; Smith, Richard J RJ; Pavlakis, Martha M

Publication Date: 2018-12-01

Variant appearance in text: CFI: 719C>G; Ala240Gly

PubMed Link: 29370420

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diseases of complement dysregulation-an overview.

Seminars In Immunopathology

Wong, Edwin K S EKS; Kavanagh, David D

Publication Date: 2018-01

Variant appearance in text: CFI: A240G

PubMed Link: 29327071

Variant Present in the following documents:

• Main text
• 281_2017_Article_663.pdf

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Association of Rare Predicted Loss-of-Function Variants in Cellular Pathways with Sub-Phenotypes in Age-Related Macular Degeneration.

Ophthalmology

Pietraszkiewicz, Alexandra A; van Asten, Freekje F; Kwong, Alan A; Ratnapriya, Rinki R; Abecasis, Goncalo G; Swaroop, Anand A; Chew, Emily Y EY

Publication Date: 2018-03

Variant appearance in text: rs146444258

PubMed Link: 29224928

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hemolytic Uremic Syndrome in Pregnancy and Postpartum.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Bruel, Alexandra A; Kavanagh, David D; Noris, Marina M; Delmas, Yahsou Y; Wong, Edwin K S EKS; Bresin, Elena E; Provôt, François F; Brocklebank, Vicky V; Mele, Caterina C; Remuzzi, Giuseppe G; Loirat, Chantal C; Frémeaux-Bacchi, Véronique V; Fakhouri, Fadi F

Publication Date: 2017-08-07

Variant appearance in text: CFI: A240G

PubMed Link: 28596415

Variant Present in the following documents:

• Main text

View BVdb publication page

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The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.

Molecular Immunology

Geerlings, Maartje J MJ; de Jong, Eiko K EK; den Hollander, Anneke I AI

Publication Date: 2017-04

Variant appearance in text: CFI: Ala240Gly

PubMed Link: 27939104

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: CFI: A240G; rs146444258

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 10

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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: A240G

PubMed Link: 25788521

Variant Present in the following documents:

• Main text
• ddv091.pdf

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Atypical hemolytic uremic syndrome.

Seminars In Nephrology

Kavanagh, David D; Goodship, Tim H TH; Richards, Anna A

Publication Date: 2013-11

Variant appearance in text: CFI: A240G

PubMed Link: 24161037

Variant Present in the following documents:

• Main text

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: A240G; rs146444258

PubMed Link: 24036952

Variant Present in the following documents:

• Main text
• NIHMS512112-supplement-2.xlsx, sheet 2
• NIHMS512112-supplement-1.pdf

View BVdb publication page

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