Publications:

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An Evaluation of the Complement-Regulating Activities of Human Complement Factor H (FH) Variants Associated With Age-Related Macular Degeneration.

Investigative Ophthalmology & Visual Science

Biggs, Robyn M RM; Makou, Elisavet E; Lauder, Scott S; Herbert, Andrew P AP; Barlow, Paul N PN; Katti, Suresh K SK

Publication Date: 2022-11-01

Variant appearance in text: CFH: Ser890Ile; rs515299

PubMed Link: 36445700

Variant Present in the following documents:

• Main text
• iovs-63-12-30.pdf
• iovs-63-12-30_s001.pdf

View BVdb publication page

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Phenotypic Expression of CFH Rare Variants in Age-Related Macular Degeneration Patients in the Coimbra Eye Study.

Investigative Ophthalmology & Visual Science

Farinha, Cláudia C; Barreto, Patrícia P; Coimbra, Rita R; Iutis, Adela A; Cachulo, Maria Luz ML; Cunha-Vaz, José J; Lechanteur, Yara T E YTE; Hoyng, Carel B CB; Silva, Rufino R

Publication Date: 2022-08-02

Variant appearance in text: CFH: 2669G>T; Ser890Ile; rs515299

PubMed Link: 35925583

Variant Present in the following documents:

• Main text
• iovs-63-9-5_s002.pdf
• iovs-63-9-5.pdf

View BVdb publication page

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Targeted Genotyping of MIS-C Patients Reveals a Potential Alternative Pathway Mediated Complement Dysregulation during COVID-19 Infection.

Current Issues In Molecular Biology

Gavriilaki, Eleni E; Tsiftsoglou, Stefanos A SA; Touloumenidou, Tasoula T; Farmaki, Evangelia E; Panagopoulou, Paraskevi P; Michailidou, Elissavet E; Koravou, Evaggelia-Evdoxia EE; Mavrikou, Ioulia I; Iosifidis, Elias E; Tsiatsiou, Olga O; Papadimitriou, Eleni E; Papadopoulou-Alataki, Efimia E; Papayanni, Penelope Georgia PG; Varelas, Christos C; Kokkoris, Styliani S; Papalexandri, Apostolia A; Fotoulaki, Maria M; Galli-Tsinopoulou, Assimina A; Zafeiriou, Dimitrios D; Roilides, Emmanuel E; Sakellari, Ioanna I; Anagnostopoulos, Achilles A; Tragiannidis, Athanasios A

Publication Date: 2022-06-28

Variant appearance in text: rs515299

PubMed Link: 35877417

Variant Present in the following documents:

• cimb-44-00193.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: CFH: 2669G>T; Ser890Ile

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: CFH: 2669G>T; Ser890Ile; rs515299

PubMed Link: 35511137

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Systemic complement levels in patients with age-related macular degeneration carrying rare or low frequency variants in the CFH gene.

Human Molecular Genetics

de Jong, Sarah S; de Breuk, Anita A; Volokhina, Elena B EB; Bakker, Bjorn B; Garanto, Alejandro A; Fauser, Sascha S; Katti, Suresh S; Hoyng, Carel B CB; Lechanteur, Yara T E YTE; van den Heuvel, Lambert P LP; den Hollander, Anneke I AI

Publication Date: 2021-09-11

Variant appearance in text: CFH: 2669G>T; Ser890Ile

PubMed Link: 34508573

Variant Present in the following documents:

• Main text
• ddab256.pdf
• supp_table_1_ddab256.xlsx, sheet 1

View BVdb publication page

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Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.

Human Molecular Genetics

de Jong, Sarah S; de Breuk, Anita A; Volokhina, Elena B EB; Bakker, Bjorn B; Garanto, Alejandro A; Fauser, Sascha S; Katti, Suresh S; Hoyng, Carel B CB; Lechanteur, Yara T E YTE; van den Heuvel, Lambert P LP; den Hollander, Anneke I AI

Publication Date: 2022-02-03

Variant appearance in text: CFH: 2669G>T; Ser890Ile

PubMed Link: 34508573

Variant Present in the following documents:

• Main text
• ddab256.pdf
• supp_table_1_ddab256.xlsx, sheet 1

View BVdb publication page

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Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell

Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,

Publication Date: 2020-11-25

Variant appearance in text: CFH: S890I

PubMed Link: 33212010

Variant Present in the following documents:

• NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5

View BVdb publication page

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: CFH: S890I

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
• 41467_2020_15456_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Synergistic effects of ADAMTS13 deficiency and complement activation in pathogenesis of thrombotic microangiopathy.

Blood

Zheng, Liang L; Zhang, Di D; Cao, Wenjing W; Song, Wen-Chao WC; Zheng, X Long XL

Publication Date: 2019-09-26

Variant appearance in text: CFH: S890I

PubMed Link: 31409673

Variant Present in the following documents:

• Main text

View BVdb publication page

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Complement Regulatory Genetic Mutations in the Setting of Autoimmune Thrombotic Thrombocytopenic Purpura: A Case Series.

Mayo Clinic Proceedings. Innovations, Quality & Outcomes

Atrash, Shebli S; Sasapu, Appalanaidu A; Pandey, Soumya S; Cottler-Fox, Michele M; Motwani, Pooja P

Publication Date: 2018-03

Variant appearance in text: HUS: 2669G>T

PubMed Link: 30225434

Variant Present in the following documents:

• Main text

View BVdb publication page

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Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.

Research And Practice In Thrombosis And Haemostasis

Fidalgo, Teresa T; Martinho, Patrícia P; Pinto, Catarina S CS; Oliveira, Ana C AC; Salvado, Ramon R; Borràs, Nina N; Coucelo, Margarida M; Manco, Licínio L; Maia, Tabita T; Mendes, M João MJ; Del Orbe Barreto, Rafael R; Corrales, Irene I; Vidal, Francisco F; Ribeiro, M Letícia ML

Publication Date: 2017-07

Variant appearance in text: CFH: 2669G>T; Ser890Ile

PubMed Link: 30046676

Variant Present in the following documents:

• Main text
• RTH2-1-69-s004.pdf
• RTH2-1-69.pdf

View BVdb publication page

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Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.

Journal Of Immunology (Baltimore, Md. : 1950)

Osborne, Amy J AJ; Breno, Matteo M; Borsa, Nicolo Ghiringhelli NG; Bu, Fengxiao F; Frémeaux-Bacchi, Véronique V; Gale, Daniel P DP; van den Heuvel, Lambertus P LP; Kavanagh, David D; Noris, Marina M; Pinto, Sheila S; Rallapalli, Pavithra M PM; Remuzzi, Giuseppe G; Rodríguez de Cordoba, Santiago S; Ruiz, Angela A; Smith, Richard J H RJH; Vieira-Martins, Paula P; Volokhina, Elena E; Wilson, Valerie V; Goodship, Timothy H J THJ; Perkins, Stephen J SJ

Publication Date: 2018-04-01

Variant appearance in text: CFH: 2669G>T; Ser890Ile

PubMed Link: 29500241

Variant Present in the following documents:

• Main text

View BVdb publication page

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Phenotype Characteristics of Patients With Age-Related Macular Degeneration Carrying a Rare Variant in the Complement Factor H Gene.

Jama Ophthalmology

Kersten, Eveline E; Geerlings, Maartje J MJ; den Hollander, Anneke I AI; de Jong, Eiko K EK; Fauser, Sascha S; Peto, Tunde T; Hoyng, Carel B CB

Publication Date: 2017-10-01

Variant appearance in text: CFH: 2669G>T; Ser890Ile

PubMed Link: 28859202

Variant Present in the following documents:

• Main text

View BVdb publication page

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PECAN: library-free peptide detection for data-independent acquisition tandem mass spectrometry data.

Nature Methods

Ting, Ying S YS; Egertson, Jarrett D JD; Bollinger, James G JG; Searle, Brian C BC; Payne, Samuel H SH; Noble, William Stafford WS; MacCoss, Michael J MJ

Publication Date: 2017-09

Variant appearance in text: rs515299

PubMed Link: 28783153

Variant Present in the following documents:

• NIHMS893716-supplement-2.pdf

View BVdb publication page

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Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature

Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,

Publication Date: 2016-06-02

Variant appearance in text: CFH: S890I

PubMed Link: 27251275

Variant Present in the following documents:

• NIHMS778057-supplement-supp_table5.xlsx, sheet 2

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: ARMD4: S890I; rs515299

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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ADAMTS13 Secretion and Residual Activity among Patients with Congenital Thrombotic Thrombocytopenic Purpura with and without Renal Impairment.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Rurali, Erica E; Banterla, Federica F; Donadelli, Roberta R; Bresin, Elena E; Galbusera, Miriam M; Gastoldi, Sara S; Peyvandi, Flora F; Underwood, Mary M; Remuzzi, Giuseppe G; Noris, Marina M

Publication Date: 2015-11-06

Variant appearance in text: CFH: S890I

PubMed Link: 26342041

Variant Present in the following documents:

• Main text

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: CFH: S890I

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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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: CFH: S890I; rs515299

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Complement factor H gene associations with end-stage kidney disease in African Americans.

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

Bonomo, Jason A JA; Palmer, Nicholette D ND; Hicks, Pamela J PJ; Lea, Janice P JP; Okusa, Mark D MD; Langefeld, Carl D CD; Bowden, Donald W DW; Freedman, Barry I BI

Publication Date: 2014-07

Variant appearance in text: rs515299

PubMed Link: 24586071

Variant Present in the following documents:

• Main text

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: HUS: S890I

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: CFH: S890I; rs515299

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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Next-generation genetic testing for retinitis pigmentosa.

Human Mutation

Neveling, Kornelia K; Collin, Rob W J RW; Gilissen, Christian C; van Huet, Ramon A C RA; Visser, Linda L; Kwint, Michael P MP; Gijsen, Sabine J SJ; Zonneveld, Marijke N MN; Wieskamp, Nienke N; de Ligt, Joep J; Siemiatkowska, Anna M AM; Hoefsloot, Lies H LH; Buckley, Michael F MF; Kellner, Ulrich U; Branham, Kari E KE; den Hollander, Anneke I AI; Hoischen, Alexander A; Hoyng, Carel C; Klevering, B Jeroen BJ; van den Born, L Ingeborgh LI; Veltman, Joris A JA; Cremers, Frans P M FP; Scheffer, Hans H

Publication Date: 2012-06

Variant appearance in text: CFH: 2669G>T; S890I

PubMed Link: 22334370

Variant Present in the following documents:

• humu0033-0963-sd1.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: CFH: S890I

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File011.xls, sheet 4
• gkn1008_nar-01723-s-2008-File009.xls, sheet 4

View BVdb publication page

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Complement and the atypical hemolytic uremic syndrome in children.

Pediatric Nephrology (Berlin, Germany)

Loirat, Chantal C; Noris, Marina M; Fremeaux-Bacchi, Véronique V

Publication Date: 2008-11

Variant appearance in text: CFH: S890I

PubMed Link: 18594873

Variant Present in the following documents:

• 467_2008_Article_872.pdf

View BVdb publication page

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The kidney in thrombotic thrombocytopenic purpura.

Minerva Medica

Tsai, H-M HM

Publication Date: 2007-12

Variant appearance in text: HUS: S890I

PubMed Link: 18299685

Variant Present in the following documents:

• Main text

View BVdb publication page

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