Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
FutureMS cohort profile: a Scottish multicentre inception cohort study of relapsing-remitting multiple sclerosis.
Bmj Open
Kearns, Patrick K A PKA; Martin, Sarah J SJ; Chang, Jessie J; Meijboom, Rozanna R; York, Elizabeth N EN; Chen, Yingdi Y; Weaver, Christine C; Stenson, Amy A; Hafezi, Katarzyna K; Thomson, Stacey S; Freyer, Elizabeth E; Murphy, Lee L; Harroud, Adil A; Foley, Peter P; Hunt, David D; McLeod, Margaret M; O'Riordan, Jonathon J; Carod-Artal, F J FJ; MacDougall, Niall J J NJJ; Baranzini, Sergio E SE; Waldman, Adam D AD; Connick, Peter P; Chandran, Siddharthan S
Influence of Genetic Polymorphisms on Clinical Outcomes of Glatiramer Acetate in Multiple Sclerosis Patients.
Journal Of Personalized Medicine
Zarzuelo-Romero, María José MJ; Pérez-Ramírez, Cristina C; Cura, Yasmín Y; Carrasco-Campos, María Isabel MI; Marangoni-Iglecias, Luciana María LM; Ramírez-Tortosa, María Carmen MC; Jiménez-Morales, Alberto A
MHC Variants Associated With Symptomatic Versus Asymptomatic SARS-CoV-2 Infection in Highly Exposed Individuals.
Frontiers In Immunology
Castelli, Erick C EC; de Castro, Mateus V MV; Naslavsky, Michel S MS; Scliar, Marilia O MO; Silva, Nayane S B NSB; Andrade, Heloisa S HS; Souza, Andreia S AS; Pereira, Raphaela N RN; Castro, Camila F B CFB; Mendes-Junior, Celso T CT; Meyer, Diogo D; Nunes, Kelly K; Matos, Larissa R B LRB; Silva, Monize V R MVR; Wang, Jaqueline Y T JYT; Esposito, Joyce J; Coria, Vivian R VR; Bortolin, Raul H RH; Hirata, Mario H MH; Magawa, Jhosiene Y JY; Cunha-Neto, Edecio E; Coelho, Verônica V; Santos, Keity S KS; Marin, Maria Lucia C MLC; Kalil, Jorge J; Mitne-Neto, Miguel M; Maciel, Rui M B RMB; Passos-Bueno, Maria Rita MR; Zatz, Mayana M
EBF1 drives hallmark B cell gene expression by enabling the interaction of PAX5 with the MLL H3K4 methyltransferase complex.
Scientific Reports
Bullerwell, Charles E CE; Robichaud, Philippe Pierre PP; Deprez, Pierre M L PML; Joy, Andrew P AP; Wajnberg, Gabriel G; D'Souza, Darwin D; Chacko, Simi S; Fournier, Sébastien S; Crapoulet, Nicolas N; Barnett, David A DA; Lewis, Stephen M SM; Ouellette, Rodney J RJ
Publication Date: 2021-01-15
Variant appearance in text: HLA-DRA: T118T; rs3135391
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Low copy numbers of complement C4 and homozygous deficiency of C4A may predispose to severe disease and earlier disease onset in patients with systemic lupus erythematosus.
Lupus
Jüptner, M M; Flachsbart, F F; Caliebe, A A; Lieb, W W; Schreiber, S S; Zeuner, R R; Franke, A A; Schröder, J O JO
A pharmacogenetic signature of high response to Copaxone in late-phase clinical-trial cohorts of multiple sclerosis.
Genome Medicine
Ross, Colin J CJ; Towfic, Fadi F; Shankar, Jyoti J; Laifenfeld, Daphna D; Thoma, Mathis M; Davis, Matthew M; Weiner, Brian B; Kusko, Rebecca R; Zeskind, Ben B; Knappertz, Volker V; Grossman, Iris I; Hayden, Michael R MR
Class II HLA interactions modulate genetic risk for multiple sclerosis.
Nature Genetics
Moutsianas, Loukas L; Jostins, Luke L; Beecham, Ashley H AH; Dilthey, Alexander T AT; Xifara, Dionysia K DK; Ban, Maria M; Shah, Tejas S TS; Patsopoulos, Nikolaos A NA; Alfredsson, Lars L; Anderson, Carl A CA; Attfield, Katherine E KE; Baranzini, Sergio E SE; Barrett, Jeffrey J; Binder, Thomas M C TMC; Booth, David D; Buck, Dorothea D; Celius, Elisabeth G EG; Cotsapas, Chris C; D'Alfonso, Sandra S; Dendrou, Calliope A CA; Donnelly, Peter P; Dubois, Bénédicte B; Fontaine, Bertrand B; Fugger, Lars L; Goris, An A; Gourraud, Pierre-Antoine PA; Graetz, Christiane C; Hemmer, Bernhard B; Hillert, Jan J; , ; Kockum, Ingrid I; Leslie, Stephen S; Lill, Christina M CM; Martinelli-Boneschi, Filippo F; Oksenberg, Jorge R JR; Olsson, Tomas T; Oturai, Annette A; Saarela, Janna J; Søndergaard, Helle Bach HB; Spurkland, Anne A; Taylor, Bruce B; Winkelmann, Juliane J; Zipp, Frauke F; Haines, Jonathan L JL; Pericak-Vance, Margaret A MA; Spencer, Chris C A CCA; Stewart, Graeme G; Hafler, David A DA; Ivinson, Adrian J AJ; Harbo, Hanne F HF; Hauser, Stephen L SL; De Jager, Philip L PL; Compston, Alastair A; McCauley, Jacob L JL; Sawcer, Stephen S; McVean, Gil G
EBNA2 binds to genomic intervals associated with multiple sclerosis and overlaps with vitamin D receptor occupancy.
Plos One
Ricigliano, Vito A G VA; Handel, Adam E AE; Sandve, Geir K GK; Annibali, Viviana V; Ristori, Giovanni G; Mechelli, Rosella R; Cader, M Zameel MZ; Salvetti, Marco M
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
Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.
Nature Genetics
Kiryluk, Krzysztof K; Li, Yifu Y; Scolari, Francesco F; Sanna-Cherchi, Simone S; Choi, Murim M; Verbitsky, Miguel M; Fasel, David D; Lata, Sneh S; Prakash, Sindhuri S; Shapiro, Samantha S; Fischman, Clara C; Snyder, Holly J HJ; Appel, Gerald G; Izzi, Claudia C; Viola, Battista Fabio BF; Dallera, Nadia N; Del Vecchio, Lucia L; Barlassina, Cristina C; Salvi, Erika E; Bertinetto, Francesca Eleonora FE; Amoroso, Antonio A; Savoldi, Silvana S; Rocchietti, Marcella M; Amore, Alessandro A; Peruzzi, Licia L; Coppo, Rosanna R; Salvadori, Maurizio M; Ravani, Pietro P; Magistroni, Riccardo R; Ghiggeri, Gian Marco GM; Caridi, Gianluca G; Bodria, Monica M; Lugani, Francesca F; Allegri, Landino L; Delsante, Marco M; Maiorana, Mariarosa M; Magnano, Andrea A; Frasca, Giovanni G; Boer, Emanuela E; Boscutti, Giuliano G; Ponticelli, Claudio C; Mignani, Renzo R; Marcantoni, Carmelita C; Di Landro, Domenico D; Santoro, Domenico D; Pani, Antonello A; Polci, Rosaria R; Feriozzi, Sandro S; Chicca, Silvana S; Galliani, Marco M; Gigante, Maddalena M; Gesualdo, Loreto L; Zamboli, Pasquale P; Battaglia, Giovanni Giorgio GG; Garozzo, Maurizio M; Maixnerová, Dita D; Tesar, Vladimir V; Eitner, Frank F; Rauen, Thomas T; Floege, Jürgen J; Kovacs, Tibor T; Nagy, Judit J; Mucha, Krzysztof K; Pączek, Leszek L; Zaniew, Marcin M; Mizerska-Wasiak, Małgorzata M; Roszkowska-Blaim, Maria M; Pawlaczyk, Krzysztof K; Gale, Daniel D; Barratt, Jonathan J; Thibaudin, Lise L; Berthoux, Francois F; Canaud, Guillaume G; Boland, Anne A; Metzger, Marie M; Panzer, Ulf U; Suzuki, Hitoshi H; Goto, Shin S; Narita, Ichiei I; Caliskan, Yasar Y; Xie, Jingyuan J; Hou, Ping P; Chen, Nan N; Zhang, Hong H; Wyatt, Robert J RJ; Novak, Jan J; Julian, Bruce A BA; Feehally, John J; Stengel, Benedicte B; Cusi, Daniele D; Lifton, Richard P RP; Gharavi, Ali G AG
Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens.
Genetic Epidemiology
Rubicz, Rohina R; Yolken, Robert R; Alaedini, Armin A; Drigalenko, Eugene E; Charlesworth, Jac C JC; Carless, Melanie A MA; Severance, Emily G EG; Krivogorsky, Bogdana B; Dyer, Thomas D TD; Kent, Jack W JW; Curran, Joanne E JE; Johnson, Matthew P MP; Cole, Shelley A SA; Almasy, Laura L; Moses, Eric K EK; Blangero, John J; Göring, Harald H H HH
Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.
Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).
Plos Genetics
Rubicz, Rohina R; Yolken, Robert R; Drigalenko, Eugene E; Carless, Melanie A MA; Dyer, Thomas D TD; Bauman, Lara L; Melton, Phillip E PE; Kent, Jack W JW; Harley, John B JB; Curran, Joanne E JE; Johnson, Matthew P MP; Cole, Shelley A SA; Almasy, Laura L; Moses, Eric K EK; Dhurandhar, Nikhil V NV; Kraig, Ellen E; Blangero, John J; Leach, Charles T CT; Göring, Harald H H HH
Implications for health and disease in the genetic signature of the Ashkenazi Jewish population.
Genome Biology
Guha, Saurav S; Rosenfeld, Jeffrey A JA; Malhotra, Anil K AK; Lee, Annette T AT; Gregersen, Peter K PK; Kane, John M JM; Pe'er, Itsik I; Darvasi, Ariel A; Lencz, Todd T
Amino acid position 11 of HLA-DRβ1 is a major determinant of chromosome 6p association with ulcerative colitis.
Genes And Immunity
Achkar, J-P JP; Klei, L L; de Bakker, P I W PI; Bellone, G G; Rebert, N N; Scott, R R; Lu, Y Y; Regueiro, M M; Brzezinski, A A; Kamboh, M I MI; Fiocchi, C C; Devlin, B B; Trucco, M M; Ringquist, S S; Roeder, K K; Duerr, R H RH
Wang, Ning N; Shen, Nan N; Vyse, Timothy J TJ; Anand, Vidya V; Gunnarson, Iva I; Sturfelt, Gunnar G; Rantapää-Dahlqvist, Solbritt S; Elvin, Kerstin K; Truedsson, Lennart L; Andersson, Bengt A BA; Dahle, Charlotte C; Ortqvist, Eva E; Gregersen, Peter K PK; Behrens, Timothy W TW; Hammarström, Lennart L
Common viruses associated with lower pediatric multiple sclerosis risk.
Neurology
Waubant, E E; Mowry, E M EM; Krupp, L L; Chitnis, T T; Yeh, E A EA; Kuntz, N N; Ness, J J; Chabas, D D; Strober, J J; McDonald, J J; Belman, A A; Milazzo, M M; Gorman, M M; Weinstock-Guttman, B B; Rodriguez, M M; Oksenberg, J R JR; James, J A JA; ,
A major histocompatibility Class I locus contributes to multiple sclerosis susceptibility independently from HLA-DRB1*15:01.
Plos One
Cree, Bruce A C BA; Rioux, John D JD; McCauley, Jacob L JL; Gourraud, Pierre-Antoine F D PA; Goyette, Philippe P; McElroy, Joseph J; De Jager, Philip P; Santaniello, Adam A; Vyse, Timothy J TJ; Gregersen, Peter K PK; Mirel, Daniel D; Hafler, David A DA; Haines, Jonathan L JL; Pericak-Vance, Margaret A MA; Compston, Alastair A; Sawcer, Stephen J SJ; Oksenberg, Jorge R JR; Hauser, Stephen L SL; , ; ,
Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases.
Proceedings Of The National Academy Of Sciences Of The United States Of America
, ; Rioux, John D JD; Goyette, Philippe P; Vyse, Timothy J TJ; Hammarström, Lennart L; Fernando, Michelle M A MM; Green, Todd T; De Jager, Philip L PL; Foisy, Sylvain S; Wang, Joanne J; de Bakker, Paul I W PI; Leslie, Stephen S; McVean, Gilean G; Padyukov, Leonid L; Alfredsson, Lars L; Annese, Vito V; Hafler, David A DA; Pan-Hammarström, Qiang Q; Matell, Ritva R; Sawcer, Stephen J SJ; Compston, Alastair D AD; Cree, Bruce A C BA; Mirel, Daniel B DB; Daly, Mark J MJ; Behrens, Tim W TW; Klareskog, Lars L; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Hauser, Stephen L SL
Modification of Multiple Sclerosis Phenotypes by African Ancestry at HLA.
Archives Of Neurology
Cree, Bruce A C BA; Reich, David E DE; Khan, Omar O; De Jager, Philip L PL; Nakashima, Ichiro I; Takahashi, Toshiyuki T; Bar-Or, Amit A; Tong, Christine C; Hauser, Stephen L SL; Oksenberg, Jorge R JR