Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: IRF7: 641G>A; Gly214Glu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM5_ESM.xlsx, sheet 4

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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.

Science (New York, N.Y.)

Zhang, Qian Q; Bastard, Paul P; Liu, Zhiyong Z; Le Pen, Jérémie J; Moncada-Velez, Marcela M; Chen, Jie J; Ogishi, Masato M; Sabli, Ira K D IKD; Hodeib, Stephanie S; Korol, Cecilia C; Rosain, Jérémie J; Bilguvar, Kaya K; Ye, Junqiang J; Bolze, Alexandre A; Bigio, Benedetta B; Yang, Rui R; Arias, Andrés Augusto AA; Zhou, Qinhua Q; Zhang, Yu Y; Onodi, Fanny F; Korniotis, Sarantis S; Karpf, Léa L; Philippot, Quentin Q; Chbihi, Marwa M; Bonnet-Madin, Lucie L; Dorgham, Karim K; Smith, Nikaïa N; Schneider, William M WM; Razooky, Brandon S BS; Hoffmann, Hans-Heinrich HH; Michailidis, Eleftherios E; Moens, Leen L; Han, Ji Eun JE; Lorenzo, Lazaro L; Bizien, Lucy L; Meade, Philip P; Neehus, Anna-Lena AL; Ugurbil, Aileen Camille AC; Corneau, Aurélien A; Kerner, Gaspard G; Zhang, Peng P; Rapaport, Franck F; Seeleuthner, Yoann Y; Manry, Jeremy J; Masson, Cecile C; Schmitt, Yohann Y; Schlüter, Agatha A; Le Voyer, Tom T; Khan, Taushif T; Li, Juan J; Fellay, Jacques J; Roussel, Lucie L; Shahrooei, Mohammad M; Alosaimi, Mohammed F MF; Mansouri, Davood D; Al-Saud, Haya H; Al-Mulla, Fahd F; Almourfi, Feras F; Al-Muhsen, Saleh Zaid SZ; Alsohime, Fahad F; Al Turki, Saeed S; Hasanato, Rana R; van de Beek, Diederik D; Biondi, Andrea A; Bettini, Laura Rachele LR; D'Angio', Mariella M; Bonfanti, Paolo P; Imberti, Luisa L; Sottini, Alessandra A; Paghera, Simone S; Quiros-Roldan, Eugenia E; Rossi, Camillo C; Oler, Andrew J AJ; Tompkins, Miranda F MF; Alba, Camille C; Vandernoot, Isabelle I; Goffard, Jean-Christophe JC; Smits, Guillaume G; Migeotte, Isabelle I; Haerynck, Filomeen F; Soler-Palacin, Pere P; Martin-Nalda, Andrea A; Colobran, Roger R; Morange, Pierre-Emmanuel PE; Keles, Sevgi S; Çölkesen, Fatma F; Ozcelik, Tayfun T; Yasar, Kadriye Kart KK; Senoglu, Sevtap S; Karabela, Şemsi Nur ŞN; Rodríguez-Gallego, Carlos C; Novelli, Giuseppe G; Hraiech, Sami S; Tandjaoui-Lambiotte, Yacine Y; Duval, Xavier X; Laouénan, Cédric C; , ; , ; , ; , ; , ; , ; , ; , ; Snow, Andrew L AL; Dalgard, Clifton L CL; Milner, Joshua D JD; Vinh, Donald C DC; Mogensen, Trine H TH; Marr, Nico N; Spaan, András N AN; Boisson, Bertrand B; Boisson-Dupuis, Stéphanie S; Bustamante, Jacinta J; Puel, Anne A; Ciancanelli, Michael J MJ; Meyts, Isabelle I; Maniatis, Tom T; Soumelis, Vassili V; Amara, Ali A; Nussenzweig, Michel M; García-Sastre, Adolfo A; Krammer, Florian F; Pujol, Aurora A; Duffy, Darragh D; Lifton, Richard P RP; Zhang, Shen-Ying SY; Gorochov, Guy G; Béziat, Vivien V; Jouanguy, Emmanuelle E; Sancho-Shimizu, Vanessa V; Rice, Charles M CM; Abel, Laurent L; Notarangelo, Luigi D LD; Cobat, Aurélie A; Su, Helen C HC; Casanova, Jean-Laurent JL

Publication Date: 2020-10-23

Variant appearance in text: IRF7: G214E

PubMed Link: 32972995

Variant Present in the following documents:

• 370_abd4570.pdf

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A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A

Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA

Publication Date: 2014

Variant appearance in text: rs140823442

PubMed Link: 25469153

Variant Present in the following documents:

• 12979_2014_19_MOESM2_ESM.xls, sheet 1

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