Publications:

---

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: Arg474Ter

PubMed Link: 36067162

Variant Present in the following documents:

• Main text
• pone.0272260.pdf

View BVdb publication page

---

Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-05-10

Variant appearance in text: CFI: R474X

PubMed Link: 35538087

Variant Present in the following documents:

• 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

---

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: 1420C>T; R474X; rs121964913

PubMed Link: 35285476

Variant Present in the following documents:

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

View BVdb publication page

---

Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-02-23

Variant appearance in text: CFI: R474X

PubMed Link: 35197475

Variant Present in the following documents:

• 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

---

Functional and Genetic Landscape of Complement Dysregulation Along the Spectrum of Thrombotic Microangiopathy and its Potential Implications on Clinical Outcomes.

Kidney International Reports

Timmermans, Sjoerd A M E G SAMEG; Damoiseaux, Jan G M C JGMC; Werion, Alexis A; Reutelingsperger, Chris P CP; Morelle, Johann J; van Paassen, Pieter P

Publication Date: 2021-04

Variant appearance in text: CFI: 1420C>T

PubMed Link: 33912760

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Quantitative multiplex profiling of the complement system to diagnose complement-mediated diseases.

Clinical & Translational Immunology

Willems, Esther E; Lorés-Motta, Laura L; Zanichelli, Andrea A; Suffritti, Chiara C; van der Flier, Michiel M; van der Molen, Renate G RG; Langereis, Jeroen D JD; van Drongelen, Joris J; van den Heuvel, Lambert P LP; Volokhina, Elena E; van de Kar, Nicole Caj NC; Keizer-Garritsen, Jenneke J; Levin, Michael M; Herberg, Jethro A JA; Martinon-Torres, Federico F; Wessels, Hans Jtc HJ; de Breuk, Anita A; Fauser, Sascha S; Hoyng, Carel B CB; den Hollander, Anneke I AI; de Groot, Ronald R; van Gool, Alain J AJ; Gloerich, Jolein J; de Jonge, Marien I MI

Publication Date: 2020

Variant appearance in text: CFI: Arg474Ter

PubMed Link: 33318796

Variant Present in the following documents:

• CTI2-9-e1225-s001.pdf
• CTI2-9-e1225.pdf

View BVdb publication page

---

Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: CFI: 1420C>T; R474*

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

---

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: R474X

PubMed Link: 32908800

Variant Present in the following documents:

• Main text
• tvst-9-9-37.pdf

View BVdb publication page

---

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: rs121964913

PubMed Link: 32510551

Variant Present in the following documents:

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

View BVdb publication page

---

The natural course of pregnancies in women with primary atypical haemolytic uraemic syndrome and asymptomatic relatives.

British Journal Of Haematology

Timmermans, Sjoerd A M E G SAMEG; Werion, Alexis A; Spaanderman, Marc E A MEA; Reutelingsperger, Chris P CP; Damoiseaux, Jan G M C JGMC; Morelle, Johann J; van Paassen, Pieter P

Publication Date: 2020-08

Variant appearance in text: CFI: 1420C>T; R474*

PubMed Link: 32342491

Variant Present in the following documents:

• Main text
• BJH-190-442.pdf

View BVdb publication page

---

Human genetics of meningococcal infections.

Human Genetics

Hodeib, Stephanie S; Herberg, Jethro A JA; Levin, Michael M; Sancho-Shimizu, Vanessa V

Publication Date: 2020-06

Variant appearance in text: CFI: R474X

PubMed Link: 32067109

Variant Present in the following documents:

• Main text
• 439_2020_Article_2128.pdf

View BVdb publication page

---

Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods.

Frontiers In Immunology

Shields, Adrian M AM; Pagnamenta, Alistair T AT; Pollard, Andrew J AJ; , ; Taylor, Jenny C JC; Allroggen, Holger H; Patel, Smita Y SY

Publication Date: 2019

Variant appearance in text: CFI: 1420C>T

PubMed Link: 31231365

Variant Present in the following documents:

• Main text
• fimmu-10-01150.pdf

View BVdb publication page

---

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: R474*; rs121964913

PubMed Link: 25788521

Variant Present in the following documents:

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: CFI: R474*; rs121964913

PubMed Link: 24036952

Variant Present in the following documents:

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

View BVdb publication page

---

Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion.

Orphanet Journal Of Rare Diseases

Alba-Domínguez, María M; López-Lera, Alberto A; Garrido, Sofía S; Nozal, Pilar P; González-Granado, Ignacio I; Melero, Josefa J; Soler-Palacín, Pere P; Cámara, Carmen C; López-Trascasa, Margarita M

Publication Date: 2012-06-18

Variant appearance in text: CFI: 1420C>T; R474X

PubMed Link: 22710145

Variant Present in the following documents:

• Main text
• 1750-1172-7-42.pdf

View BVdb publication page

---