Publications:

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Correction: Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.

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

Thomas, Christie P CP; Freese, Margaret E ME; Ounda, Agnes A; Jetton, Jennifer G JG; Holida, Myrl M; Noureddine, Lama L; Smith, Richard J RJ

Publication Date: 2021-10

Variant appearance in text: CFI: Tyr369Ser

PubMed Link: 33024316

Variant Present in the following documents:

• 41436_2020_Article_1000.pdf

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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: Tyr369Ser; rs776596901

PubMed Link: 32510551

Variant Present in the following documents:

• supp_table_1_ddaa114.xlsx, sheet 1

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Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.

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

Thomas, Christie P CP; Freese, Margaret E ME; Ounda, Agnes A; Jetton, Jennifer G JG; Holida, Myrl M; Noureddine, Lama L; Smith, Richard J RJ

Publication Date: 2020-06

Variant appearance in text: CFI: Tyr369Ser

PubMed Link: 32203225

Variant Present in the following documents:

• Main text
• 41436_2020_Article_772.pdf

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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: Y369S

PubMed Link: 25788521

Variant Present in the following documents:

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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: Y369S

PubMed Link: 24161037

Variant Present in the following documents:

• Main text

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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: Y369S

PubMed Link: 24036952

Variant Present in the following documents:

• Main text
• NIHMS512112-supplement-1.pdf

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Recurrent atypical hemolytic uremic syndrome associated with factor I mutation in a living related renal transplant recipient.

American Journal Of Kidney Diseases : The Official Journal Of The National Kidney Foundation

Chan, Micah R MR; Thomas, Christie P CP; Torrealba, Jose R JR; Djamali, Arjang A; Fernandez, Luis A LA; Nishimura, Carla J CJ; Smith, Richard J H RJ; Samaniego, Millie D MD

Publication Date: 2009-02

Variant appearance in text: CFI: 1106A>C; Tyr369Ser

PubMed Link: 18805611

Variant Present in the following documents:

• Main text

View BVdb publication page

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