Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: rs751111134

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Complement Factor I Variants in Complement-Mediated Renal Diseases.

Frontiers In Immunology

Zhang, Yuzhou Y; Goodfellow, Renee X RX; Ghiringhelli Borsa, Nicolo N; Dunlop, Hannah C HC; Presti, Stephen A SA; Meyer, Nicole C NC; Shao, Dingwu D; Roberts, Sarah M SM; Jones, Michael B MB; Pitcher, Gabriella R GR; Taylor, Amanda O AO; Nester, Carla M CM; Smith, Richard J H RJH

Publication Date: 2022

Variant appearance in text: CFI: 950G>A; Arg317Gln

PubMed Link: 35619721

Variant Present in the following documents:

• Main text
• fimmu-13-866330.pdf

View BVdb publication page

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The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation.

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

Schrezenmeier, Eva E; Kremerskothen, Elisa E; Halleck, Fabian F; Staeck, Oliver O; Liefeldt, Lutz L; Choi, Mira M; Schüler, Markus M; Weber, Ulrike U; Bachmann, Nadine N; Grohmann, Maik M; Wagner, Timo T; Budde, Klemens K; Bergmann, Carsten C

Publication Date: 2021-07

Variant appearance in text: CFI: 950G>A; Arg317Gln

PubMed Link: 33712733

Variant Present in the following documents:

• Main text
• 41436_2021_Article_1127.pdf

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: CFI: 950G>A; R317Q

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Molecular Studies and an ex vivo Complement Assay on Endothelium Highlight the Genetic Complexity of Atypical Hemolytic Uremic Syndrome: The Case of a Pedigree With a Null CD46 Variant.

Frontiers In Medicine

Piras, Rossella R; Iatropoulos, Paraskevas P; Bresin, Elena E; Todeschini, Marta M; Gastoldi, Sara S; Valoti, Elisabetta E; Alberti, Marta M; Mele, Caterina C; Galbusera, Miriam M; Cuccarolo, Paola P; Benigni, Ariela A; Remuzzi, Giuseppe G; Noris, Marina M

Publication Date: 2020

Variant appearance in text: CFI: R317Q

PubMed Link: 33224962

Variant Present in the following documents:

• Main text
• fmed-07-579418.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: Arg317Gln; rs751111134

PubMed Link: 32510551

Variant Present in the following documents:

• supp_table_1_ddaa114.xlsx, sheet 1

View BVdb publication page

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Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine

Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D

Publication Date: 2019-12

Variant appearance in text: CFI: 950G>A

PubMed Link: 31792460

Variant Present in the following documents:

• 41591_2019_654_MOESM2_ESM.xlsx, 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: R317Q

PubMed Link: 25788521

Variant Present in the following documents:

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: R317Q

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-1.pdf

View BVdb publication page

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