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: Gly650Val; rs143237092

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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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: G650V; rs143237092

PubMed Link: 35925583

Variant Present in the following documents:

• iovs-63-9-5_s002.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: 1949G>T; Gly650Val; rs143237092

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: 1949G>T; Gly650Val; rs143237092

PubMed Link: 34508573

Variant Present in the following documents:

• supp_table_1_ddab256.xlsx, sheet 1

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: G650V

PubMed Link: 34189567

Variant Present in the following documents:

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

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: G650V

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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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: CFH: G650V

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 27

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: G650V

PubMed Link: 29327071

Variant Present in the following documents:

• Main text
• 281_2017_Article_663.pdf

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: G650V; rs143237092

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome.

Journal Of Medical Genetics

Servais, Aude A; Frémeaux-Bacchi, Véronique V; Lequintrec, Moglie M; Salomon, Rémi R; Blouin, Jacques J; Knebelmann, Bertrand B; Grünfeld, Jean-Pierre JP; Lesavre, Philippe P; Noël, Laure-Hélène LH; Fakhouri, Fadi F

Publication Date: 2007-03

Variant appearance in text: HUS: G650V

PubMed Link: 17018561

Variant Present in the following documents:

• Main text

View BVdb publication page

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