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: CFB: 724A>C; Ile242Leu

PubMed Link: 36938085

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Novel Complement Factor B Gene Mutation Identified in a Kidney Transplant Recipient with a Shiga Toxin-Triggered Episode of Thrombotic Microangiopathy.

The American Journal Of Case Reports

Korzycka, Joanna J; Pawłowicz-Szlarska, Ewa E; Masajtis-Zagajewska, Anna A; Nowicki, Michał M

Publication Date: 2022-10-28

Variant appearance in text: CFB: 724A>C; Ile242Leu

PubMed Link: 36306276

Variant Present in the following documents:

• amjcaserep-23-e936565.pdf

View BVdb publication page

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Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders.

Frontiers In Immunology

Tabansky, Inna I; Tanaka, Akemi J AJ; Wang, Jiayao J; Zhang, Guanglan G; Dujmovic, Irena I; Mader, Simone S; Jeganathan, Venkatesh V; DeAngelis, Tracey T; Funaro, Michael M; Harel, Asaff A; Messina, Mark M; Shabbir, Maya M; Nursey, Vishaan V; DeGouvia, William W; Laurent, Micheline M; Blitz, Karen K; Jindra, Peter P; Gudesblatt, Mark M; , ; King, Alejandra A; Drulovic, Jelena J; Yunis, Edmond E; Brusic, Vladimir V; Shen, Yufeng Y; Keskin, Derin B DB; Najjar, Souhel S; Stern, Joel N H JNH

Publication Date: 2022

Variant appearance in text: rs144812066

PubMed Link: 36268024

Variant Present in the following documents:

• Table_1.xlsx, sheet 3

View BVdb publication page

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Targeted Genotyping of MIS-C Patients Reveals a Potential Alternative Pathway Mediated Complement Dysregulation during COVID-19 Infection.

Current Issues In Molecular Biology

Gavriilaki, Eleni E; Tsiftsoglou, Stefanos A SA; Touloumenidou, Tasoula T; Farmaki, Evangelia E; Panagopoulou, Paraskevi P; Michailidou, Elissavet E; Koravou, Evaggelia-Evdoxia EE; Mavrikou, Ioulia I; Iosifidis, Elias E; Tsiatsiou, Olga O; Papadimitriou, Eleni E; Papadopoulou-Alataki, Efimia E; Papayanni, Penelope Georgia PG; Varelas, Christos C; Kokkoris, Styliani S; Papalexandri, Apostolia A; Fotoulaki, Maria M; Galli-Tsinopoulou, Assimina A; Zafeiriou, Dimitrios D; Roilides, Emmanuel E; Sakellari, Ioanna I; Anagnostopoulos, Achilles A; Tragiannidis, Athanasios A

Publication Date: 2022-06-28

Variant appearance in text: rs144812066

PubMed Link: 35877417

Variant Present in the following documents:

• cimb-44-00193.pdf

View BVdb publication page

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Integrative proteogenomic characterization of hepatocellular carcinoma across etiologies and stages.

Nature Communications

Ng, Charlotte K Y CKY; Dazert, Eva E; Boldanova, Tuyana T; Coto-Llerena, Mairene M; Nuciforo, Sandro S; Ercan, Caner C; Suslov, Aleksei A; Meier, Marie-Anne MA; Bock, Thomas T; Schmidt, Alexander A; Ketterer, Sylvia S; Wang, Xueya X; Wieland, Stefan S; Matter, Matthias S MS; Colombi, Marco M; Piscuoglio, Salvatore S; Terracciano, Luigi M LM; Hall, Michael N MN; Heim, Markus H MH

Publication Date: 2022-05-04

Variant appearance in text: rs144812066

PubMed Link: 35508466

Variant Present in the following documents:

• 41467_2022_29960_MOESM12_ESM.xlsx, sheet 1

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: CFB: 724A>C; Ile242Leu

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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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: CFB: 724A>C

PubMed Link: 34508573

Variant Present in the following documents:

• Main text
• ddab256.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: 2021-09-11

Variant appearance in text: CFB: 724A>C

PubMed Link: 34508573

Variant Present in the following documents:

• Main text
• ddab256.pdf

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: CFB: I242L

PubMed Link: 34189567

Variant Present in the following documents:

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

View BVdb publication page

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Factor D Inhibition Blocks Complement Activation Induced by Mutant Factor B Associated With Atypical Hemolytic Uremic Syndrome and Membranoproliferative Glomerulonephritis.

Frontiers In Immunology

Aradottir, Sigridur Sunna SS; Kristoffersson, Ann-Charlotte AC; Roumenina, Lubka T LT; Bjerre, Anna A; Kashioulis, Pavlos P; Palsson, Runolfur R; Karpman, Diana D

Publication Date: 2021

Variant appearance in text: CFB: I242L

PubMed Link: 34177949

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel Variation in CFB Adult Onset Atypical Hemolytic Uremic Syndrome: A Case Report and Review.

Indian Journal Of Nephrology

Chhakchhuak, Malsawmkima M; Agarwal, Jony J

Publication Date: 2020

Variant appearance in text: CFB: 724A>C; I242L

PubMed Link: 33273796

Variant Present in the following documents:

• Main text

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: CFB: I242L

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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The Extended Use of Eculizumab in Pregnancy and Complement Activation⁻Associated Diseases Affecting Maternal, Fetal and Neonatal Kidneys-The Future Is Now?

Journal Of Clinical Medicine

Stefanovic, Vedran V

Publication Date: 2019-03-24

Variant appearance in text: CFB: 724A>C; I242L

PubMed Link: 30909646

Variant Present in the following documents:

• Main text
• jcm-08-00407.pdf

View BVdb publication page

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Clinical Relapses of Atypical HUS on Eculizumab: Clinical Gap for Monitoring and Individualised Therapy.

Case Reports In Nephrology

Teoh, Chia Wei CW; Gorman, Kathleen Mary KM; Lynch, Bryan B; Goodship, Timothy H J THJ; Dolan, Niamh Marie NM; Waldron, Mary M; Riordan, Michael M; Awan, Atif A

Publication Date: 2018

Variant appearance in text: CFB: 724A>C; rs144812066

PubMed Link: 29552364

Variant Present in the following documents:

• Main text
• CRIN2018-2781789.pdf

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: N/A

PubMed Link: 29327071

Variant Present in the following documents:

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: CFB: 724A>C; I242L; rs144812066

PubMed Link: 29148534

Variant Present in the following documents:

• Main text
• modpathol2017154a.pdf

View BVdb publication page

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Eculizumab cessation in atypical hemolytic uremic syndrome.

Blood

Merrill, Samuel A SA; Brittingham, Zachary D ZD; Yuan, Xuan X; Moliterno, Alison R AR; Sperati, C John CJ; Brodsky, Robert A RA

Publication Date: 2017-07-20

Variant appearance in text: N/A

PubMed Link: 28461395

Variant Present in the following documents:

View BVdb publication page

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Atypical haemolytic uraemic syndrome in a patient with sickle cell disease, successfully treated with eculizumab.

British Journal Of Haematology

Chonat, Satheesh S; Chandrakasan, Shanmuganathan S; Kalinyak, Karen Ann KA; Ingala, David D; Gruppo, Ralph R; Kalfa, Theodosia A TA

Publication Date: 2016-11

Variant appearance in text: CFB: 724A>C; I242L

PubMed Link: 27870017

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diabetic ketoacidosis presenting with atypical hemolytic uremic syndrome associated with a variant of complement factor B in an adult: a case report.

Journal Of Medical Case Reports

Zhu, Ziqiang Z; Chen, Hui H; Gill, Rupinder R; Wang, Jenchin J; Spitalewitz, Samuel S; Gotlieb, Vladimir V

Publication Date: 2016-02-24

Variant appearance in text: CFB: 724A>C; I242L

PubMed Link: 26911616

Variant Present in the following documents:

• Main text
• 13256_2016_Article_825.pdf

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: N/A

PubMed Link: 26206375

Variant Present in the following documents:

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: rs144812066

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Complement factor B mutations in atypical hemolytic uremic syndrome-disease-relevant or benign?

Journal Of The American Society Of Nephrology : Jasn

Marinozzi, Maria Chiara MC; Vergoz, Laura L; Rybkine, Tania T; Ngo, Stephanie S; Bettoni, Serena S; Pashov, Anastas A; Cayla, Mathieu M; Tabarin, Fanny F; Jablonski, Mathieu M; Hue, Christophe C; Smith, Richard J RJ; Noris, Marina M; Halbwachs-Mecarelli, Lise L; Donadelli, Roberta R; Fremeaux-Bacchi, Veronique V; Roumenina, Lubka T LT

Publication Date: 2014-09

Variant appearance in text: rs144812066

PubMed Link: 24652797

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: CFB: I242L; rs144812066

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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