Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations.
American Journal Of Human Genetics
Kumar, Vikrant V; Pouw, Richard B RB; Autio, Matias I MI; Sagmeister, Manfred G MG; Phua, Zai Yang ZY; Borghini, Lisa L; Wright, Victoria J VJ; Hoggart, Clive C; Pan, Bangfen B; Tan, Antson Kiat Yee AKY; Binder, Alexander A; Brouwer, Mieke C MC; Pinnock, Ellie E; De Groot, Ronald R; Hazelzet, Jan J; Emonts, Marieke M; Van Der Flier, Michiel M; Reiter, Karl K; Nöthen, Markus M MM; Hoffmann, Per P; , ; Schlapbach, Luregn J LJ; Bellos, Evangelos E; Anderson, Suzanne S; Secka, Fatou F; Martinón-Torres, Federico F; Salas, Antonio A; Fink, Colin C; Carrol, Enitan D ED; Pollard, Andrew J AJ; Coin, Lachlan J LJ; Zenz, Werner W; Wouters, Diana D; Ang, Lay Teng LT; Hibberd, Martin L ML; Levin, Michael M; Kuijpers, Taco W TW; Davila, Sonia S
Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.
American Journal Of Human Genetics
Lorés-Motta, Laura L; van Beek, Anna E AE; Willems, Esther E; Zandstra, Judith J; van Mierlo, Gerard G; Einhaus, Alfred A; Mary, Jean-Luc JL; Stucki, Corinne C; Bakker, Bjorn B; Hoyng, Carel B CB; Fauser, Sascha S; Clark, Simon J SJ; de Jonge, Marien I MI; Nogoceke, Everson E; Koertvely, Elod E; Jongerius, Ilse I; Kuijpers, Taco W TW; den Hollander, Anneke I AI
Publication Date: 2021-08-05
Variant appearance in text: CFHR2: Tyr264Cys; rs41310132
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01
Variant appearance in text: CFHR2: Y264C; rs41310132
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: CFHR2: Y264C; rs41310132
Eculizumab in secondary atypical haemolytic uraemic syndrome.
Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Cavero, Teresa T; Rabasco, Cristina C; López, Antía A; Román, Elena E; Ávila, Ana A; Sevillano, Ángel Á; Huerta, Ana A; Rojas-Rivera, Jorge J; Fuentes, Carolina C; Blasco, Miquel M; Jarque, Ana A; García, Alba A; Mendizabal, Santiago S; Gavela, Eva E; Macía, Manuel M; Quintana, Luis F LF; María Romera, Ana A; Borrego, Josefa J; Arjona, Emi E; Espinosa, Mario M; Portolés, José J; Gracia-Iguacel, Carolina C; González-Parra, Emilio E; Aljama, Pedro P; Morales, Enrique E; Cao, Mercedes M; Rodríguez de Córdoba, Santiago S; Praga, Manuel M
Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.
Clinical Immunology (Orlando, Fla.)
van Schouwenburg, Pauline A PA; Davenport, Emma E EE; Kienzler, Anne-Kathrin AK; Marwah, Ishita I; Wright, Benjamin B; Lucas, Mary M; Malinauskas, Tomas T; Martin, Hilary C HC; , ; Lockstone, Helen E HE; Cazier, Jean-Baptiste JB; Chapel, Helen M HM; Knight, Julian C JC; Patel, Smita Y SY
Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.
Nature Communications
Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: CFHR2: Y264C; rs41310132
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: CFHR2: Y264C; rs41310132