Publications:

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A novel method for real-time analysis of the complement C3b:FH:FI complex reveals dominant negative CFI variants in age-related macular degeneration.

Frontiers In Immunology

Hallam, Thomas M TM; Cox, Thomas E TE; Smith-Jackson, Kate K; Brocklebank, Vicky V; Baral, April J AJ; Tzoumas, Nikolaos N; Steel, David H DH; Wong, Edwin K S EKS; Shuttleworth, Victoria G VG; Lotery, Andrew J AJ; Harris, Claire L CL; Marchbank, Kevin J KJ; Kavanagh, David D

Publication Date: 2022

Variant appearance in text: CFI: I340T

PubMed Link: 36643920

Variant Present in the following documents:

• Main text
• fimmu-13-1028760.pdf

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Complement Gene Variant Effect on Relapse of Complement-Mediated Thrombotic Microangiopathy after Eculizumab Cessation.

Blood Advances

Acosta-Medina, Aldo A AA; Moyer, Ann M AM; Go, Ronald S RS; Willrich, Maria Alice V MAV; Fervenza, Fernando C FC; Leung, Nelson N; Bourlon, Christianne C; Winters, Jeffrey L JL; Spears, Grant M GM; Bryant, Sandra C SC; Sridharan, Meera M

Publication Date: 2022-05-09

Variant appearance in text: CFI: 1019T>C; Ile340Thr

PubMed Link: 35533258

Variant Present in the following documents:

• BLOODA_ADV-2021-006416-mmc1.pdf

View BVdb publication page

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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: 1019T>C; I340T; rs769419740

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

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Functional Analysis of Variants in Complement Factor I Identified in Age-Related Macular Degeneration and Atypical Hemolytic Uremic Syndrome.

Frontiers In Immunology

de Jong, Sarah S; de Breuk, Anita A; Bakker, Bjorn B; Katti, Suresh S; Hoyng, Carel B CB; Nilsson, Sara C SC; Blom, Anna M AM; van den Heuvel, Lambert P LP; den Hollander, Anneke I AI; Volokhina, Elena B EB

Publication Date: 2021

Variant appearance in text: rs769419740

PubMed Link: 35069568

Variant Present in the following documents:

• Main text
• Table_1.xlsx, sheet 1
• fimmu-12-789897.pdf

View BVdb publication page

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Fulminant H1N1 and severe acute respiratory syndrome coronavirus-2 infections with a 4-year interval without an identifiable underlying cause: a case report.

Journal Of Medical Case Reports

Katzenstein, Terese L TL; Jørgensen, Sofie E SE; Mortensen, Jann J; Helleberg, Marie M; Kalhauge, Anna A; Mogensen, Trine H TH

Publication Date: 2021-10-08

Variant appearance in text: CFI: 1019T>C

PubMed Link: 34625101

Variant Present in the following documents:

• Main text

View BVdb publication page

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: CFI: I340T

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Rare Genetic Variants in Complement Factor I Lead to Low FI Plasma Levels Resulting in Increased Risk of Age-Related Macular Degeneration.

Investigative Ophthalmology & Visual Science

Hallam, Thomas M TM; Marchbank, Kevin J KJ; Harris, Claire L CL; Osmond, Clive C; Shuttleworth, Victoria G VG; Griffiths, Helen H; Cree, Angela J AJ; Kavanagh, David D; Lotery, Andrew J AJ

Publication Date: 2020-06-03

Variant appearance in text: CFI: I340T

PubMed Link: 32516404

Variant Present in the following documents:

• Main text
• iovs-61-6-18.pdf

View BVdb publication page

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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: Ile340Thr; rs769419740

PubMed Link: 32510551

Variant Present in the following documents:

• Main text
• supp_table_1_ddaa114.xlsx, sheet 1

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: CFI: 1019T>C; I340T

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM23_ESM.xlsx, sheet 1
• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9

View BVdb publication page

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Complement factor I deficiency: A potentially treatable cause of fulminant cerebral inflammation.

Neurology(R) Neuroimmunology & Neuroinflammation

Altmann, Tom T; Torvell, Megan M; Owens, Stephen S; Mitra, Dipayan D; Sheerin, Neil S NS; Morgan, B Paul BP; Kavanagh, David D; Forsyth, Rob R

Publication Date: 2020-05

Variant appearance in text: CFI: 1019T>C; Ile340Thr

PubMed Link: 32098865

Variant Present in the following documents:

• Main text
• NEURIMMINFL2019025221.pdf

View BVdb publication page

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Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.

Jama Network Open

McCreary, Dara D; Omoyinmi, Ebun E; Hong, Ying Y; Mulhern, Ciara C; Papadopoulou, Charalampia C; Casimir, Marina M; Hacohen, Yael Y; Nyanhete, Rodney R; Ahlfors, Helena H; Cullup, Thomas T; Lim, Ming M; Gilmour, Kimberly K; Mankad, Kshitij K; Wassmer, Evangeline E; Berg, Stefan S; Hemingway, Cheryl C; Brogan, Paul P; Eleftheriou, Despina D

Publication Date: 2019-10-02

Variant appearance in text: CFI: 1019T>C

PubMed Link: 31664448

Variant Present in the following documents:

• jamanetwopen-2-e1914274-s001.pdf

View BVdb publication page

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Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.

Frontiers In Immunology

El Sissy, Carine C; Rosain, Jérémie J; Vieira-Martins, Paula P; Bordereau, Pauline P; Gruber, Aurélia A; Devriese, Magali M; de Pontual, Loïc L; Taha, Muhamed-Kheir MK; Fieschi, Claire C; Picard, Capucine C; Frémeaux-Bacchi, Véronique V

Publication Date: 2019

Variant appearance in text: CFI: Ile340Thr

PubMed Link: 31440263

Variant Present in the following documents:

• Main text
• fimmu-10-01936.pdf

View BVdb publication page

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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: I340T

PubMed Link: 31231365

Variant Present in the following documents:

• Main text
• fimmu-10-01150.pdf

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: Ile340Thr

PubMed Link: 28596415

Variant Present in the following documents:

• Main text

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: I340T

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: I340T

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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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: I340T

PubMed Link: 25788521

Variant Present in the following documents:

View BVdb publication page

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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: I340T

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: I340T

PubMed Link: 24036952

Variant Present in the following documents:

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

View BVdb publication page

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Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.

Journal Of The American Society Of Nephrology : Jasn

Bresin, Elena E; Rurali, Erica E; Caprioli, Jessica J; Sanchez-Corral, Pilar P; Fremeaux-Bacchi, Veronique V; Rodriguez de Cordoba, Santiago S; Pinto, Sheila S; Goodship, Timothy H J TH; Alberti, Marta M; Ribes, David D; Valoti, Elisabetta E; Remuzzi, Giuseppe G; Noris, Marina M; ,

Publication Date: 2013-02

Variant appearance in text: CFI: I340T

PubMed Link: 23431077

Variant Present in the following documents:

• Main text

View BVdb publication page

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Atypical hemolytic uremic syndrome in children: complement mutations and clinical characteristics.

Pediatric Nephrology (Berlin, Germany)

Geerdink, Lianne M LM; Westra, Dineke D; van Wijk, Joanna A E JA; Dorresteijn, Eiske M EM; Lilien, Marc R MR; Davin, Jean-Claude JC; Kömhoff, Martin M; Van Hoeck, Koen K; van der Vlugt, Amerins A; van den Heuvel, Lambertus P LP; van de Kar, Nicole C A J NC

Publication Date: 2012-08

Variant appearance in text: CFI: 1019T>C; Ile340Thr

PubMed Link: 22410797

Variant Present in the following documents:

• Main text
• 467_2012_Article_2131.pdf

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: CFI: I340T

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File011.xls, sheet 2
• gkn1008_nar-01723-s-2008-File009.xls, sheet 2

View BVdb publication page

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