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: Thr956Met; rs145975787

PubMed Link: 36445700

Variant Present in the following documents:

• Main text
• iovs-63-12-30_s001.pdf
• iovs-63-12-30.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: CFH: T956M

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 1

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: CFH: 2867C>T; Thr956Met

PubMed Link: 36246952

Variant Present in the following documents:

• Main text
• mmc7.pdf
• main.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: T956M; rs145975787

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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A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine

Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY

Publication Date: 2022-05-17

Variant appearance in text: CFH: 2867C>T; Thr956Met

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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: CFH: T956M

PubMed Link: 34912830

Variant Present in the following documents:

• Main text
• fmed-08-775280.pdf

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: 2867C>T; Thr956Met; rs145975787

PubMed Link: 34508573

Variant Present in the following documents:

• 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: 2021-09-11

Variant appearance in text: CFH: 2867C>T; Thr956Met; rs145975787

PubMed Link: 34508573

Variant Present in the following documents:

• supp_table_1_ddab256.xlsx, sheet 1

View BVdb publication page

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Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.

Nature Communications

Frontzek, Fabian F; Staiger, Annette M AM; Zapukhlyak, Myroslav M; Xu, Wendan W; Bonzheim, Irina I; Borgmann, Vanessa V; Sander, Philip P; Baptista, Maria Joao MJ; Heming, Jan-Niklas JN; Berning, Philipp P; Wullenkord, Ramona R; Erdmann, Tabea T; Lutz, Mathias M; Veratti, Pia P; Ehrenfeld, Sophia S; Wienand, Kirsty K; Horn, Heike H; Goodlad, John R JR; Wilson, Matthew R MR; Anagnostopoulos, Ioannis I; Lamping, Mario M; Gonzalez-Barca, Eva E; Climent, Fina F; Salar, Antonio A; Castellvi, Josep J; Abrisqueta, Pau P; Menarguez, Javier J; Aldamiz, Teresa T; Richter, Julia J; Klapper, Wolfram W; Tzankov, Alexandar A; Dirnhofer, Stefan S; Rosenwald, Andreas A; Mate, José Luis JL; Tapia, Gustavo G; Lenz, Peter P; Miething, Cornelius C; Hartmann, Wolfgang W; Chapuy, Björn B; Fend, Falko F; Ott, German G; Navarro, José-Tomas JT; Grau, Michael M; Lenz, Georg G

Publication Date: 2021-08-31

Variant appearance in text: CFH: 2867C>T; T956M

PubMed Link: 34465776

Variant Present in the following documents:

• 41467_2021_25405_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.

American Journal Of Human Genetics

Lorés-Motta, Laura L; van Beek, Anna E AE; Willems, Esther E; Zandstra, Judith J; van Mierlo, Gerard G; Einhaus, Alfred A; Mary, Jean-Luc JL; Stucki, Corinne C; Bakker, Bjorn B; Hoyng, Carel B CB; Fauser, Sascha S; Clark, Simon J SJ; de Jonge, Marien I MI; Nogoceke, Everson E; Koertvely, Elod E; Jongerius, Ilse I; Kuijpers, Taco W TW; den Hollander, Anneke I AI

Publication Date: 2021-08-05

Variant appearance in text: CFH: Thr956Met

PubMed Link: 34260947

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.

Blood

Martín Merinero, Hector H; Zhang, Yuzhou Y; Arjona, Emilia E; Del Angel, Guillermo G; Goodfellow, Renee R; Gomez-Rubio, Elena E; Ji, Rui-Ru RR; Michelena, Malkoa M; Smith, Richard J H RJH; Rodríguez de Córdoba, Santiago S

Publication Date: 2021-12-02

Variant appearance in text: CFH: T956M

PubMed Link: 34189567

Variant Present in the following documents:

• Main text
• 10.1182-2021012037_bloodbld2021012037-suppl1.pdf
• bloodBLD2021012037-suppl1.pdf

View BVdb publication page

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In-depth plasma proteomics reveals increase in circulating PD-1 during anti-PD-1 immunotherapy in patients with metastatic cutaneous melanoma.

Journal For Immunotherapy Of Cancer

Babačić, Haris H; Lehtiö, Janne J; Pico de Coaña, Yago Y; Pernemalm, Maria M; Eriksson, Hanna H

Publication Date: 2020-05

Variant appearance in text: rs145975787

PubMed Link: 32457125

Variant Present in the following documents:

• jitc-2019-000204supp003.xlsx, sheet 3

View BVdb publication page

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Genomic landscape of platinum resistant and sensitive testicular cancers.

Nature Communications

Loveday, Chey C; Litchfield, Kevin K; Proszek, Paula Z PZ; Cornish, Alex J AJ; Santo, Flavia F; Levy, Max M; Macintyre, Geoff G; Holryod, Amy A; Broderick, Peter P; Dudakia, Darshna D; Benton, Barbara B; Bakir, Maise Al MA; Hiley, Crispin C; Grist, Emily E; Swanton, Charles C; Huddart, Robert R; Powles, Tom T; Chowdhury, Simon S; Shipley, Janet J; O'Connor, Simon S; Brenton, James D JD; Reid, Alison A; de Castro, David Gonzalez DG; Houlston, Richard S RS; Turnbull, Clare C

Publication Date: 2020-05-04

Variant appearance in text: CFH: 2867C>T; Thr956Met

PubMed Link: 32366847

Variant Present in the following documents:

• 41467_2020_15768_MOESM5_ESM.xlsx, sheet 2

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: CFH: 2867C>T; Thr956Met; rs145975787

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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C3 Glomerulopathy: Ten Years' Experience at Mayo Clinic.

Mayo Clinic Proceedings

Ravindran, Aishwarya A; Fervenza, Fernando C FC; Smith, Richard J H RJH; De Vriese, An S AS; Sethi, Sanjeev S

Publication Date: 2018-08

Variant appearance in text: CFH: 2867C>T; Thr956Met

PubMed Link: 30077216

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: CFH: T956M

PubMed Link: 29327071

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic testing of complement and coagulation pathways in patients with severe hypertension and renal microangiopathy.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Larsen, Christopher P CP; Wilson, Jon D JD; Best-Rocha, Alejandro A; Beggs, Marjorie L ML; Hennigar, Randolph A RA

Publication Date: 2018-03

Variant appearance in text: CFH: T956M; rs145975787

PubMed Link: 29148534

Variant Present in the following documents:

• Main text
• modpathol2017154a.pdf

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: 2867C>T; Thr956Met

PubMed Link: 28859202

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: CFH: T956M; rs145975787

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8

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: CFH: 2867C>T; Thr956Met

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page

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Serological and genetic complement alterations in infection-induced and complement-mediated hemolytic uremic syndrome.

Pediatric Nephrology (Berlin, Germany)

Westra, Dineke D; Volokhina, Elena B EB; van der Molen, Renate G RG; van der Velden, Thea J A M TJ; Jeronimus-Klaasen, Annelies A; Goertz, Joop J; Gracchi, Valentina V; Dorresteijn, Eiske M EM; Bouts, Antonia H M AH; Keijzer-Veen, Mandy G MG; van Wijk, Joanna A E JA; Bakker, Jaap A JA; Roos, Anja A; van den Heuvel, Lambert P LP; van de Kar, Nicole C A J NC

Publication Date: 2017-02

Variant appearance in text: CFH: Thr956Met

PubMed Link: 27718086

Variant Present in the following documents:

• Main text
• 467_2016_Article_3496.pdf

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: T956M; rs145975787

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: CFH: T956M

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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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: CFH: T956M; rs145975787

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 7

View BVdb publication page

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Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration.

Molecular Vision

Duvvari, Maheswara R MR; Saksens, Nicole T M NT; van de Ven, Johannes P H JP; de Jong-Hesse, Yvonne Y; Schick, Tina T; Nillesen, Willy M WM; Fauser, Sascha S; Hoefsloot, Lies H LH; Hoyng, Carel B CB; de Jong, Eiko K EK; den Hollander, Anneke I AI

Publication Date: 2015

Variant appearance in text: CFH: 2867C>T; Thr956Met; rs145975787

PubMed Link: 25814826

Variant Present in the following documents:

• Main text
• mv-v21-285.pdf

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: CFH: T956M

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: CFH: T956M

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

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: T956M; rs145975787

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: CFH: T956M

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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Maternal coding variants in complement receptor 1 and spontaneous idiopathic preterm birth.

Human Genetics

McElroy, Jude J JJ; Gutman, Courtney E CE; Shaffer, Christian M CM; Busch, Tamara D TD; Puttonen, Hilkka H; Teramo, Kari K; Murray, Jeffrey C JC; Hallman, Mikko M; Muglia, Louis J LJ

Publication Date: 2013-08

Variant appearance in text: CFH: Thr956Met

PubMed Link: 23591632

Variant Present in the following documents:

• Main text

View BVdb publication page

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Eculizumab for dense deposit disease and C3 glomerulonephritis.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Bomback, Andrew S AS; Smith, Richard J RJ; Barile, Gaetano R GR; Zhang, Yuzhou Y; Heher, Eliot C EC; Herlitz, Leal L; Stokes, M Barry MB; Markowitz, Glen S GS; D'Agati, Vivette D VD; Canetta, Pietro A PA; Radhakrishnan, Jai J; Appel, Gerald B GB

Publication Date: 2012-05

Variant appearance in text: CFH: Thr956Met

PubMed Link: 22403278

Variant Present in the following documents:

• Main text

View BVdb publication page

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Causes of alternative pathway dysregulation in dense deposit disease.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Zhang, Yuzhou Y; Meyer, Nicole C NC; Wang, Kai K; Nishimura, Carla C; Frees, Kathy K; Jones, Michael M; Katz, Louis M LM; Sethi, Sanjeev S; Smith, Richard J H RJ

Publication Date: 2012-02

Variant appearance in text: CFH: 2867C>T; Thr956Met

PubMed Link: 22223606

Variant Present in the following documents:

• Main text

View BVdb publication page

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Proliferative glomerulonephritis secondary to dysfunction of the alternative pathway of complement.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Sethi, Sanjeev S; Fervenza, Fernando C FC; Zhang, Yuzhou Y; Nasr, Samih H SH; Leung, Nelson N; Vrana, Julie J; Cramer, Carl C; Nester, Carla M CM; Smith, Richard J H RJ

Publication Date: 2011-05

Variant appearance in text: CFH: 2867C>T; T956M

PubMed Link: 21415311

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome.

American Journal Of Human Genetics

Pérez-Caballero, D D; González-Rubio, C C; Gallardo, M E ME; Vera, M M; López-Trascasa, M M; Rodríguez de Córdoba, S S; Sánchez-Corral, P P

Publication Date: 2001-02

Variant appearance in text: HUS: T956M

PubMed Link: 11170895

Variant Present in the following documents:

• Main text

View BVdb publication page

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