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: K441R

PubMed Link: 36909148

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Eculizumab as a treatment for C3 glomerulopathy: a single-center retrospective study.

Bmc Nephrology

Welte, Thomas T; Arnold, Frederic F; Westermann, Lukas L; Rottmann, Felix A FA; Hug, Martin J MJ; Neumann-Haefelin, Elke E; Ganner, Athina A

Publication Date: 2023-01-11

Variant appearance in text: CFI: 1322A>G

PubMed Link: 36631797

Variant Present in the following documents:

• 12882_2023_3058_MOESM1_ESM.pdf

View BVdb publication page

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: CFI: K441R

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Genetic Risk in Families with Age-Related Macular Degeneration.

Ophthalmology Science

de Breuk, Anita A; Lechanteur, Yara T E YTE; Heesterbeek, Thomas J TJ; Fauser, Sascha S; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI

Publication Date: 2021-12

Variant appearance in text: CFI: 1322A>G; Lys441Arg

PubMed Link: 36246952

Variant Present in the following documents:

• mmc7.pdf

View BVdb publication page

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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: K441R

PubMed Link: 36067162

Variant Present in the following documents:

• Main text

View BVdb publication page

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Fatal thrombotic microangiopathy case following adeno-associated viral SMN gene therapy.

Blood Advances

Guillou, Julia J; de Pellegars, Alice A; Porcheret, Florence F; Frémeaux-Bacchi, Véronique V; Allain-Launay, Emma E; Debord, Camille C; Denis, Manon M; Péréon, Yann Y; Barnérias, Christine C; Desguerre, Isabelle I; Roussey, Gwenaëlle G; Mercier, Sandra S

Publication Date: 2022-07-26

Variant appearance in text: CFI: Lys441Arg

PubMed Link: 35584395

Variant Present in the following documents:

• Main text
• advancesADV2021006419.pdf

View BVdb publication page

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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: 1322A>G; Lys441Arg

PubMed Link: 35533258

Variant Present in the following documents:

• BLOODA_ADV-2021-006416-mmc1.pdf

View BVdb publication page

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Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

D'Alterio, Giuseppe G; Lasorsa, Vito Alessandro VA; Bonfiglio, Ferdinando F; Cantalupo, Sueva S; Rosato, Barbara Eleni BE; Andolfo, Immacolata I; Russo, Roberta R; Esposito, Umberto U; Frisso, Giulia G; Abete, Pasquale P; Cassese, Gian Marco GM; Servillo, Giuseppe G; Gentile, Ivan I; Piscopo, Carmelo C; Della Monica, Matteo M; Fiorentino, Giuseppe G; Boccia, Angelo A; Paolella, Giovanni G; Ferrucci, Veronica V; de Antonellis, Pasqualino P; Siciliano, Roberto R; Asadzadeh, Fathem F; Cerino, Pellegrino P; Buonerba, Carlo C; Pierri, Biancamaria B; Zollo, Massimo M; Iolascon, Achille A; Capasso, Mario M

Publication Date: 2022-08

Variant appearance in text: rs41278047

PubMed Link: 35511137

Variant Present in the following documents:

• mmc1.xls, sheet 1

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: 1322A>G; K441R; rs41278047

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

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: CFI: 1322A>G; Lys441Arg

PubMed Link: 34973142

Variant Present in the following documents:

• 10875_2021_1183_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Clinicopathologic Implications of Complement Genetic Variants in Kidney Transplantation.

Frontiers In Medicine

Ren, Zhen Z; Perkins, Stephen J SJ; Love-Gregory, Latisha L; Atkinson, John P JP; Java, Anuja A

Publication Date: 2021

Variant appearance in text: CFI: K441R

PubMed Link: 34912830

Variant Present in the following documents:

• Main text
• fmed-08-775280.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: K441R

PubMed Link: 32908800

Variant Present in the following documents:

• Main text
• tvst-9-9-37.pdf

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: K441R

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: Lys441Arg; rs41278047

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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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: rs41278047

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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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: 1322A>G

PubMed Link: 31664448

Variant Present in the following documents:

• jamanetwopen-2-e1914274-s001.pdf

View BVdb publication page

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Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration.

Genes

Shoshany, Nadav N; Weiner, Chen C; Safir, Margarita M; Einan-Lifshitz, Adi A; Pokroy, Russell R; Kol, Ayala A; Modai, Shira S; Shomron, Noam N; Pras, Eran E

Publication Date: 2019-10-18

Variant appearance in text: CFI: Lys441Arg; rs41278047

PubMed Link: 31635417

Variant Present in the following documents:

• Main text
• genes-10-00825.pdf

View BVdb publication page

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PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Journal Of Experimental & Clinical Cancer Research : Cr

Mlakar, Vid V; Jurkovic Mlakar, Simona S; Lesne, Laurence L; Marino, Denis D; Rathi, Komal S KS; Maris, John M JM; Ansari, Marc M; Gumy-Pause, Fabienne F

Publication Date: 2019-02-12

Variant appearance in text: CFI: K441R

PubMed Link: 30755224

Variant Present in the following documents:

• 13046_2019_1066_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Treating C3 glomerulopathy with eculizumab.

Bmc Nephrology

Welte, Thomas T; Arnold, Frederic F; Kappes, Julia J; Seidl, Maximilian M; Häffner, Karsten K; Bergmann, Carsten C; Walz, Gerd G; Neumann-Haefelin, Elke E

Publication Date: 2018-01-12

Variant appearance in text: CFI: 1322A>G

PubMed Link: 29329521

Variant Present in the following documents:

• Main text

View BVdb publication page

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Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration.

Investigative Ophthalmology & Visual Science

Tan, Perciliz L PL; Garrett, Melanie E ME; Willer, Jason R JR; Campochiaro, Peter A PA; Campochiaro, Betsy B; Zack, Donald J DJ; Ashley-Koch, Allison E AE; Katsanis, Nicholas N

Publication Date: 2017-03-01

Variant appearance in text: CFI: K441R

PubMed Link: 28282489

Variant Present in the following documents:

• Main text
• i1552-5783-58-3-1570.pdf

View BVdb publication page

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: CFI: 1322A>G; Lys441Arg

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: CFI: 1322A>G; K441R; rs41278047

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

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: K441R; rs41278047

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 6

View BVdb publication page

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

,

Publication Date: 2015-06-26

Variant appearance in text: CFI: K441R; rs41278047

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM3_ESM.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: K441R

PubMed Link: 25788521

Variant Present in the following documents:

• Main text
• ddv091.pdf

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: CFI: K441R; rs41278047

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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: K441R

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: K441R; rs41278047

PubMed Link: 24036952

Variant Present in the following documents:

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

View BVdb publication page

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Mutations in complement regulatory proteins predispose to preeclampsia: a genetic analysis of the PROMISSE cohort.

Plos Medicine

Salmon, Jane E JE; Heuser, Cara C; Triebwasser, Michael M; Liszewski, M Kathryn MK; Kavanagh, David D; Roumenina, Lubka L; Branch, D Ware DW; Goodship, Tim T; Fremeaux-Bacchi, Veronique V; Atkinson, John P JP

Publication Date: 2011-03

Variant appearance in text: CFI: 1322A>G; rs41278047

PubMed Link: 21445332

Variant Present in the following documents:

• Main text
• pmed.1001013.pdf

View BVdb publication page

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