Publications:

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A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology

Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW

Publication Date: 2023-03-13

Variant appearance in text: CFB: R74H

PubMed Link: 36914848

Variant Present in the following documents:

• 41698_2023_366_MOESM2_ESM.xlsx, sheet 4

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: 221G>A; Arg74His

PubMed Link: 36306276

Variant Present in the following documents:

• amjcaserep-23-e936565.pdf

View BVdb publication page

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A non-synonymous variant rs12614 of complement factor B associated with risk of chronic hepatitis B in a Korean population.

Bmc Medical Genetics

Seo, Jung Yeon JY; Shin, Joong-Gon JG; Youn, Byeong Ju BJ; Namgoong, Suhg S; Cheong, Hyun Sub HS; Kim, Lyoung Hyo LH; Kim, Ji On JO; Shin, Hyoung Doo HD; Kim, Yoon Jun YJ

Publication Date: 2020-12-17

Variant appearance in text: rs117314762

PubMed Link: 33334325

Variant Present in the following documents:

• Main text
• 12881_2020_Article_1177.pdf

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: 221G>A; Arg74His

PubMed Link: 33273796

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Genomics, Proteomics & Bioinformatics

Sun, Jing J; Zhang, Yanfang Y; Wang, Minhui M; Guan, Qian Q; Yang, Xiujia X; Ou, Jin Xia JX; Yan, Mingchen M; Wang, Chengrui C; Zhang, Yan Y; Li, Zhi-Hao ZH; Lan, Chunhong C; Mao, Chen C; Zhou, Hong-Wei HW; Hao, Bingtao B; Zhang, Zhenhai Z

Publication Date: 2020-10

Variant appearance in text: CFB: 221G>A; Arg74His

PubMed Link: 32827758

Variant Present in the following documents:

• mmc12.xlsx, sheet 1

View BVdb publication page

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In-depth plasma proteomics reveals increase in circulating PD-1 during anti-PD-1 immunotherapy in patients with metastatic cutaneous melanoma.

Journal For Immunotherapy Of Cancer

Babačić, Haris H; Lehtiö, Janne J; Pico de Coaña, Yago Y; Pernemalm, Maria M; Eriksson, Hanna H

Publication Date: 2020-05

Variant appearance in text: rs117314762

PubMed Link: 32457125

Variant Present in the following documents:

• jitc-2019-000204supp003.xlsx, sheet 3

View BVdb publication page

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Dysregulation of neuron differentiation in an autistic savant with exceptional memory.

Molecular Brain

Song, Jinjing J; Yang, Xiujuan X; Zhou, Ying Y; Chen, Lei L; Zhang, Xu X; Liu, Zhuxi Z; Niu, Weibo W; Zhan, Nengpeng N; Fan, Xuelian X; Khan, Abdul Aziz AA; Kuang, Yifang Y; Song, Lulu L; He, Guang G; Li, Weidong W

Publication Date: 2019-11-07

Variant appearance in text: CFB: R74H; rs117314762

PubMed Link: 31699123

Variant Present in the following documents:

• 13041_2019_507_MOESM1_ESM.xlsx, sheet 2

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: R74H

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 53

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: CFB: R74H

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One

Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z

Publication Date: 2015

Variant appearance in text: CFB: 221G>A; R74H; rs117314762

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 2

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: CFB: R74H

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1

View BVdb publication page

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Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics

Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO

Publication Date: 2013-03

Variant appearance in text: rs117314762

PubMed Link: 23555315

Variant Present in the following documents:

• pgen.1003419.s009.xlsx, sheet 1

View BVdb publication page

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