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IEIVariantFilter: a bioinformatics tool to speed up genetic diagnosis of inborn errors of immunity patients Pereda, Juan; Espinosa, Rafael; Garcia-Solis, Blanca; Guerra-Galan, Teresa; Van-Den-Rym, Ana; Kars, Meltem Ece; Mena, Rocio; Galan, Victor; de Andres-Martin, Ana; Rodriguez-Gallego, Carlos; Lopez-Lera, Alberto; Corvillo, Fernando; Perez-Martinez, Antonio; Lopez-Collazo, Eduardo; Sanchez-Ramon, Silvia; Martinez-Barricarte, Ruben; Quintana-Murci, Lluis; Lorenzo-Salazar, Jose Miguel; Itan, Yuval; Flores, Carlos; Perez-de-Diego, Rebeca Share Save
Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data Kars, Meltem Ece; Stein, David; Stenson, Peter D.; Cooper, David N.; Chung, Wendy K.; Gruber, Peter J.; Seidman, Christine E.; Shen, Yufeng; Tristani-Firouzi, Martin; Gelb, Bruce D.; Itan, Yuval Share Save
Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency Zhen, Xin; Betti, Michael J.; Kars, Meltem Ece; Patterson, Andrew R.; Medina-Torres, Edgar Alejandro; Mendoza, Selma Cecilia Scheffler; Sanchez, Diana Andrea Herrera; Lopez-Herrera, Gabriela; Svyryd, Yevgeniya; Mutchinick, Osvaldo M.; Gamazon, Eric R.; Rathmell, Jeffrey C.; Itan, Yuval; Markle, Janet; Romanillos, Patricia O'Farrill; Lugo-Reyes, Saul Oswaldo; Martinez-Barricarte, Ruben Share Save
Expanding drug targets for 112 chronic diseases using a machine learning-assisted genetic priority score Chen, Robert; Duffy, Aine; Petrazzini, Ben O.; Vy, Ha My; Stein, David; Mort, Matthew; Park, Joshua K.; Schlessinger, Avner; Itan, Yuval; Cooper, David N.; Jordan, Daniel M.; Rocheleau, Ghislain; Do, Ron Share Save
Proteogenomic analysis integrated with electronic health records data reveals disease-associated variants in Black Americans Tahir, Usman A.; Barber, Jacob L.; Cruz, Daniel E.; Kars, Meltem Ece; Deng, Shuliang; Tuftin, Bjoernar; Gillman, Madeline G.; Benson, Mark D.; Robbins, Jeremy M.; Chen, Zsu-Zsu; Rao, Prashant; Katz, Daniel H.; Farrell, Laurie; Sofer, Tamar; Hall, Michael E.; Ekunwe, Lynette; Tracy, Russell P.; Durda, Peter; Taylor, Kent D.; Liu, Yongmei; Johnson, W. Craig; Guo, Xiuqing; Chen, Yii-Der Ida; Manichaikul, Ani W.; Jain, Deepti; Wang, Thomas J.; Reiner, Alex P.; Natarajan, Pradeep; Itan, Yuval; Rich, Stephen S.; Rotter, Jerome I.; Wilson, James G.; Raffield, Laura M.; Gerszten, Robert E. Share Save
Inherited human RelB deficiency impairs innate and adaptive immunity to infection Le Voyer, Tom; Renkilaraj, Majistor Raj Luxman Maglorius; Moriya, Kunihiko; Lorenzo, Malena Perez; Nguyen, Tina; Gao, Liwei; Rubin, Tamar; Cederholm, Axel; Ogishi, Masato; Franco, Carlos A. Arango-; Beziat, Vivien; Levy, Romain; Migaud, Melanie; Rapaport, Franck; Itan, Yuval; Deenick, Elissa K.; Cortese, Irene; Lisco, Andrea; Boztug, Kaan; Abel, Laurent; Boisson-Dupuis, Stephanie; Boisson, Bertrand; Frosk, Patrick; Ma, Cindy S.; Landegren, Nils; Celmeli, Fatih; Casanova, Jean- Laurent; Tangye, Stuart G.; Puel, Anne Share Save
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis (vol 221, e20232387, 2024) Horesh, Michael E.; Martin-Fernandez, Marta; Gruber, Conor; Buta, Sofija; Le Voyer, Tom; Puzenat, Eve; Lesmana, Harry; Wu, Yiming; Richardson, Ashley; Stein, David; Hodeib, Stephanie; Youssef, Mariam; Kurowski, Jacob A.; Feuille, Elizabeth; Pedroza, Luis A.; Fuleihan, Ramsay L.; Haseley, Alexandria; Hovnanian, Alain; Quartier, Pierre; Rosain, Jeremie; Davis, Georgina; Mullan, Daniel; Stewart, O'Jay; Patel, Roosheel; Lee, Angelica E.; Rubinstein, Rebecca; Ewald, Leyla; Maheshwari, Nikhil; Rahming, Virginia; Chinn, Ivan K.; Lupski, James R.; Orange, Jordan S.; Sancho-Shimizu, Vanessa; Casanova, Jean-Laurent; Abul-Husn, Noura S.; Itan, Yuval; Milner, Joshua D.; Bustamante, Jacinta; Bogunovic, Dusan Share Save
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis Horesh, Michael E.; Martin-Fernandez, Marta; Gruber, Conor; Buta, Sofija; Le Voyer, Tom; Puzenat, Eve; Lesmana, Harry; Wu, Yiming; Richardson, Ashley; Stein, David; Hodeib, Stephanie; Youssef, Mariam; Kurowski, Jacob A.; Feuille, Elizabeth; Pedroza, Luis A.; Fuleihan, Ramsay L.; Haseley, Alexandria; Hovnanian, Alain; Quartier, Pierre; Rosain, Jeremie; Davis, Georgina; Mullan, Daniel; Stewart, O'Jay; Patel, Roosheel; Lee, Angelica E.; Rubinstein, Rebecca; Ewald, Leyla; Maheshwari, Nikhil; Rahming, Virginia; Chinn, Ivan K.; Lupski, James R.; Orange, Jordan S.; Sancho-Shimizu, Vanessa; Casanova, Jean-Laurent; Abul-Husn, Noura S.; Itan, Yuval; Milner, Joshua D.; Bustamante, Jacinta; Bogunovic, Dusan Share Save
Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications Duffy, Aine; Petrazzini, Ben Omega; Stein, David; Park, Joshua K.; Forrest, Iain S.; Gibson, Kyle; Vy, Ha My; Chen, Robert; Marquez-Luna, Carla; Mort, Matthew; Verbanck, Marie; Schlessinger, Avner; Itan, Yuval; Cooper, David N.; Rocheleau, Ghislain; Jordan, Daniel M.; Do, Ron Share Save
Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients Wu, Yiming; Gettler, Kyle; Kars, Meltem Ece; Giri, Mamta; Li, Dalin; Bayrak, Cigdem Sevim; Zhang, Peng; Jain, Aayushee; Maffucci, Patrick; Sabic, Ksenija; Van Vleck, Tielman; Nadkarni, Girish; Denson, Lee A.; Ostrer, Harry; Levine, Adam P.; Schiff, Elena R.; Segal, Anthony W.; Kugathasan, Subra; Stenson, Peter D.; Cooper, David N.; Schumm, L. Philip; Snapper, Scott; Daly, Mark J.; Haritunians, Talin; Duerr, Richard H.; Silverberg, Mark S.; Rioux, John D.; Brant, Steven R.; McGovern, Dermot P. B.; Cho, Judy H.; Itan, Yuval Share Save
Genetic susceptibility to diabetic kidney disease is linked to promoter variants of XOR Wang, Qin; Qi, Haiying; Wu, Yiming; Yu, Liping; Bouchareb, Rihab; Li, Shuyu; Lassen, Emelie; Casalena, Gabriella; Stadler, Krisztian; Ebefors, Kerstin; Yi, Zhengzi; Shi, Shaolin; Salem, Fadi; Gordon, Ronald; Lu, Lu; Williams, Robert W.; Duffield, Jeremy; Zhang, Weijia; Itan, Yuval; Bottinger, Erwin; Daehn, Ilse Share Save
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Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants Bayrak, Cigdem Sevim; Stein, David; Jain, Aayushee; Chaudhary, Kumardeep; Nadkarni, Girish N.; Van Vleck, Tielman T.; Puel, Anne; Boisson-Dupuis, Stephanie; Okada, Satoshi; Stenson, Peter D.; Cooper, David N.; Schlessinger, Avner; Itan, Yuval Share Save
The genetic structure of the Turkish population reveals high levels of variation and admixture Kars, M. Ece; Basak, A. Nazli; Onat, O. Emre; Bilguvar, Kaya; Choi, Jungmin; Itan, Yuval; Caglar, Caner; Palvadeau, Robin; Casanova, Jean-Laurent; Cooper, David N.; Stenson, Peter D.; Yavuz, Alper; Bulus, Hakan; Gunel, Murat; Friedman, Jeffrey M.; Ozcelik, Tayfun Share Save
Burden of Cardiomyopathic Genetic Variation in Lethal Pediatric Myocarditis Kontorovich, Amy R.; Tang, Yingying; Patel, Nihir; Georgievskaya, Zhanna; Shadrina, Mariya; Williams, Nori; Moscati, Arden; Peter, Inga; Itan, Yuval; Sampson, Barbara; Gelb, Bruce D. Share Save
A computational approach for detecting physiological homogeneity in the midst of genetic heterogeneity Zhang, Peng; Cobat, Aurelie; Lee, Yoon-Seung; Wu, Yiming; Bayrak, Cigdem Sevim; Boccon-Gibod, Clementine; Matuozzo, Daniela; Lorenzo, Lazaro; Jain, Aayushee; Boucherit, Soraya; Vallee, Louis; Stueve, Burkhard; Chabrier, Stephane; Casanova, Jean-Laurent; Abel, Laurent; Zhang, Shen-Ying; Itan, Yuval Share Save
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