Publications:

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Exome-First Strategy in Adult Patients With CKD: A Cohort Study.

Kidney International Reports

Doreille, Alice A; Lombardi, Yannis Y; Dancer, Marine M; Lamri, Radoslava R; Testard, Quentin Q; Vanhoye, Xavier X; Lebre, Anne-Sophie AS; Garcia, Hugo H; Rafat, Cédric C; Ouali, Nacera N; Luque, Yosu Y; Izzedine, Hassan H; Esteve, Emmanuel E; Cez, Alexandre A; Petit-Hoang, Camille C; François, Hélène H; Marchal, Armance A; Letavernier, Emmanuel E; Frémeaux-Bacchi, Véronique V; Boffa, Jean-Jacques JJ; Rondeau, Eric E; Raymond, Laure L; Mesnard, Laurent L

Publication Date: 2023-03

Variant appearance in text: CFI: 1246A>C; Ile416Leu

PubMed Link: 36938085

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Relapse of atypical hemolytic uremic syndrome triggered by COVID-19: a lesson for the clinical nephrologist.

Journal Of Nephrology

Uwatoko, Ryuta R; Shindo, Mayu M; Hashimoto, Nobuhiro N; Iio, Rei R; Ueda, Yoshiyasu Y; Tatematsu, Yoshitaka Y; Kato, Noritoshi N; Maruyama, Shoichi S; Hayashi, Terumasa T

Publication Date: 2023-03-06

Variant appearance in text: CFI: Ile416Leu

PubMed Link: 36877369

Variant Present in the following documents:

• Main text
• 40620_2023_Article_1595.pdf

View BVdb publication page

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A Multicenter Study Evaluating the Discontinuation of Eculizumab Therapy in Children with Atypical Hemolytic Uremic Syndrome.

Children (Basel, Switzerland)

AlZabali, Saeed S; AlBatati, Sawsan S; Rahim, Khawla K; Faqeehi, Hassan H; Osman, Abubaker A; Bamhraz, Abdulaziz A; Saleh, Mohammed A MA; Kari, Jameela A JA; Aloufi, Majed M; Eid, Loai L; Nasser, Haydar H; Imam, Abubakr A; AlHammadi, Entesar E; Alkandari, Omar O; Al Riyami, Mohammed M; Sethi, Sidharth S; Licht, Christoph C; Alhasan, Khalid A KA; AlAnazi, Abdulkarim A

Publication Date: 2022-11-11

Variant appearance in text: CFI: 1246A>C

PubMed Link: 36421183

Variant Present in the following documents:

• children-09-01734.pdf

View BVdb publication page

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C5 inhibition allows continued antineoplastic therapy in cancer- and chemotherapy-associated thrombotic microangiopathy.

Blood Advances

Shah, Hridaya H; Chen, Hang H; Pan, Xiang-Zuo XZ; Metjian, Ara A; Brodsky, Robert A RA; Braunstein, Evan M EM; Chaturvedi, Shruti S

Publication Date: 2022-12-13

Variant appearance in text: CFI: 1246A>C; Ile416Leu

PubMed Link: 35914225

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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: CFI: 1246A>C; Ile416Leu

PubMed Link: 35533258

Variant Present in the following documents:

• BLOODA_ADV-2021-006416-mmc1.pdf

View BVdb publication page

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Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.

Journal Of Clinical Immunology

Kernan, Kate F KF; Ghaloul-Gonzalez, Lina L; Vockley, Jerry J; Lamb, Janette J; Hollingshead, Deborah D; Chandran, Uma U; Sethi, Rahil R; Park, Hyun-Jung HJ; Berg, Robert A RA; Wessel, David D; Pollack, Murray M MM; Meert, Kathleen L KL; Hall, Mark W MW; Newth, Christopher J L CJL; Lin, John C JC; Doctor, Allan A; Shanley, Tom T; Cornell, Tim T; Harrison, Rick E RE; Zuppa, Athena F AF; Banks, Russel R; Reeder, Ron W RW; Holubkov, Richard R; Notterman, Daniel A DA; Dean, J Michael JM; Carcillo, Joseph A JA

Publication Date: 2022-02

Variant appearance in text: CFI: 1246A>C; Ile416Leu

PubMed Link: 34973142

Variant Present in the following documents:

• 10875_2021_1183_MOESM7_ESM.xlsx, sheet 1
• 10875_2021_Article_1183.pdf

View BVdb publication page

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COVID-19 as a potential trigger of complement-mediated atypical HUS.

Blood

El Sissy, Carine C; Saldman, Antonin A; Zanetta, Gilbert G; Martins, Paula Vieira PV; Poulain, Coralie C; Cauchois, Raphaël R; Kaplanski, Gilles G; Venetz, Jean-Pierre JP; Bobot, Mickaël M; Dobosziewicz, Hélène H; Daniel, Laurent L; Koubi, Marie M; Sadallah, Salima S; Rotman, Samuel S; Mousson, Christiane C; Pascual, Manuel M; Frémeaux-Bacchi, Véronique V; Fakhouri, Fadi F

Publication Date: 2021-11-04

Variant appearance in text: CFI: 1246A>C; Ile416Leu

PubMed Link: 34482396

Variant Present in the following documents:

• Main text

View BVdb publication page

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Risk of Atypical HUS Among Family Members of Patients Carrying Complement Regulatory Gene Abnormality.

Kidney International Reports

Ardissino, Gianluigi G; Longhi, Selena S; Porcaro, Luigi L; Pintarelli, Giulia G; Strumbo, Bice B; Capone, Valentina V; Cresseri, Donata D; Loffredo, Giulia G; Tel, Francesca F; Salardi, Stefania S; Sgarbanti, Martina M; Martelli, Laura L; Rodrigues, Evangeline Millicent EM; Borsa-Ghiringhelli, Nicolò N; Montini, Giovanni G; Seia, Manuela M; Cugno, Massimo M; Carfagna, Fabio F; Consonni, Dario D; Tedeschi, Silvana S

Publication Date: 2021-06

Variant appearance in text: CFI: 1246A>C; Ile416Leu

PubMed Link: 34169201

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Pregnancies in kidney transplant recipients with complement gene variant-mediated thrombotic microangiopathy.

Clinical Kidney Journal

Haninger-Vacariu, Natalja N; Aigner, Christof C; Gaggl, Martina M; Kain, Renate R; Prohászka, Zoltán Z; Böhmig, Georg A GA; Sunder-Plassmann, Raute R; Sunder-Plassmann, Gere G; Schmidt, Alice A

Publication Date: 2021-04

Variant appearance in text: CFI: I416L

PubMed Link: 33841869

Variant Present in the following documents:

• Main text
• sfaa113.pdf

View BVdb publication page

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Ex vivo assays to detect complement activation in complementopathies.

Clinical Immunology (Orlando, Fla.)

Yuan, Xuan X; Yu, Jia J; Gerber, Gloria G; Chaturvedi, Shruti S; Cole, Michael M; Chen, Hang H; Metjian, Ara A; Sperati, C John CJ; Braunstein, Evan M EM; Brodsky, Robert A RA

Publication Date: 2020-12

Variant appearance in text: CFI: Ile416Leu

PubMed Link: 33148511

Variant Present in the following documents:

• Main text

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: Ile416Leu; rs61733901

PubMed Link: 32510551

Variant Present in the following documents:

• supp_table_1_ddaa114.xlsx, sheet 1

View BVdb publication page

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Thinking Beyond HLH: Clinical Features of Patients with Concurrent Presentation of Hemophagocytic Lymphohistiocytosis and Thrombotic Microangiopathy.

Journal Of Clinical Immunology

Gloude, Nicholas J NJ; Dandoy, Christopher E CE; Davies, Stella M SM; Myers, Kasiani C KC; Jordan, Michael B MB; Marsh, Rebecca A RA; Kumar, Ashish A; Bleesing, Jack J; Teusink-Cross, Ashley A; Jodele, Sonata S

Publication Date: 2020-07

Variant appearance in text: CFI: 1246A>C; I416L

PubMed Link: 32447592

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sex Differences in Clinical Presentation and Outcomes among Patients with Complement-Gene-Variant-Mediated Thrombotic Microangiopathy.

Journal Of Clinical Medicine

Aigner, Christof C; Gaggl, Martina M; Kain, Renate R; Prohászka, Zoltán Z; Garam, Nóra N; Csuka, Dorottya D; Sunder-Plassmann, Raute R; Piggott, Leah Charlotte LC; Haninger-Vacariu, Natalja N; Schmidt, Alice A; Sunder-Plassmann, Gere G

Publication Date: 2020-03-31

Variant appearance in text: CFI: I416L

PubMed Link: 32244370

Variant Present in the following documents:

• jcm-09-00964-s001.pdf

View BVdb publication page

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A rare case of Alport syndrome, atypical hemolytic uremic syndrome and Pauci-immune crescentic glomerulonephritis.

Bmc Nephrology

Tao, Jianling J; Lieberman, Jonathan J; Lafayette, Richard A RA; Kambham, Neeraja N

Publication Date: 2018-12-12

Variant appearance in text: CFI: 1246A>C

PubMed Link: 30541482

Variant Present in the following documents:

• Main text
• 12882_2018_Article_1170.pdf

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: CFI: 1246A>C

PubMed Link: 30225434

Variant Present in the following documents:

• Main text

View BVdb publication page

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Maternal and Fetal Outcomes of Pregnancies in Women with Atypical Hemolytic Uremic Syndrome.

Journal Of The American Society Of Nephrology : Jasn

Gaggl, Martina M; Aigner, Christof C; Csuka, Dorottya D; Szilágyi, Ágnes Á; Prohászka, Zoltán Z; Kain, Renate R; Haninger, Natalja N; Knechtelsdorfer, Maarten M; Sunder-Plassmann, Raute R; Sunder-Plassmann, Gere G; Schmidt, Alice A

Publication Date: 2018-03

Variant appearance in text: CFI: I416L

PubMed Link: 29282226

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: CFI: 1246A>C; I416L; rs61733901

PubMed Link: 29148534

Variant Present in the following documents:

• Main text
• modpathol2017154a.pdf

View BVdb publication page

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Long-term outcomes of the Atypical Hemolytic Uremic Syndrome after kidney transplantation treated with eculizumab as first choice.

Plos One

de Andrade, Luis Gustavo Modelli LGM; Contti, Mariana Moraes MM; Nga, Hong Si HS; Bravin, Ariane Moyses AM; Takase, Henrique Mochida HM; Viero, Rosa Marlene RM; da Silva, Trycia Nunes TN; Chagas, Kelem De Nardi KN; Palma, Lilian Monteiro Pereira LMP

Publication Date: 2017

Variant appearance in text: CFI: Ile416Leu

PubMed Link: 29136640

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hemolytic Uremic Syndrome in Pregnancy and Postpartum.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Bruel, Alexandra A; Kavanagh, David D; Noris, Marina M; Delmas, Yahsou Y; Wong, Edwin K S EKS; Bresin, Elena E; Provôt, François F; Brocklebank, Vicky V; Mele, Caterina C; Remuzzi, Giuseppe G; Loirat, Chantal C; Frémeaux-Bacchi, Véronique V; Fakhouri, Fadi F

Publication Date: 2017-08-07

Variant appearance in text: CFI: Ile416Leu

PubMed Link: 28596415

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: CFI: I416L; rs61733901

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

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: CFI: I416L; rs61733901

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: CFI: I416L

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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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: I416L; rs61733901

PubMed Link: 25788521

Variant Present in the following documents:

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: CFI: I416L

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: CFI: I416L; rs61733901

PubMed Link: 24036952

Variant Present in the following documents:

• Main text
• nihms-512112.pdf
• NIHMS512112-supplement-1.pdf

View BVdb publication page

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Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Fremeaux-Bacchi, Véronique V; Fakhouri, Fadi F; Garnier, Arnaud A; Bienaimé, Frank F; Dragon-Durey, Marie-Agnès MA; Ngo, Stéphanie S; Moulin, Bruno B; Servais, Aude A; Provot, François F; Rostaing, Lionel L; Burtey, Stéphane S; Niaudet, Patrick P; Deschênes, Georges G; Lebranchu, Yvon Y; Zuber, Julien J; Loirat, Chantal C

Publication Date: 2013-04

Variant appearance in text: CFI: I416L

PubMed Link: 23307876

Variant Present in the following documents:

• Main text

View BVdb publication page

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