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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
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Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants Silva, Dina Buitrago; Trinidad, Marena; Ljungdahl, Alicia; Revalde, Jezrael L.; Berguig, Geoffrey Y.; Wallace, William; Patrick, Cory S.; Bomba, Lorenzo; Arkin, Michelle; Dong, Shan; Estrada, Karol; Hutchinson, Keino; Lebowitz, Jonathan H.; Schlessinger, Avner; Johannesen, Katrine M.; Moller, Rikke S.; Giacomini, Kathleen M.; Froelich, Steven; Sanders, Stephan J.; Wuster, Arthur Share Save
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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
Substrate binding and inhibition of the anion exchanger 1 transporter Capper, Michael J.; Yang, Shifan; Stone, Alexander C.; Vatansever, Sezen; Zilberg, Gregory; Mathiharan, Yamuna Kalyani; Habib, Raul; Hutchinson, Keino; Zhao, Yihan; Schlessinger, Avner; Mezei, Mihaly; Osman, Roman; Zhang, Bin; Wacker, Daniel Share Save
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Conserved allosteric inhibition mechanism in SLC1 transporters Dong, Yang; Wang, Jiali; Garibsingh, Rachel-Ann; Hutchinson, Keino; Shi, Yueyue; Eisenberg, Gilad; Yu, Xiaozhen; Schlessinger, Avner; Grewer, Christof; Stockbridge, Randy B. Share Save
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Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency Koleske, Megan L.; McInnes, Gregory; Brown, Julia E. H.; Thomas, Neil; Hutchinson, Keino; Chin, Marcus Y.; Koehl, Antoine; Arkin, Michelle R.; Schlessinger, Avner; Gallagher, Renata C.; Song, Yun S.; Altman, Russ B.; Giacomini, Kathleen M. 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
Rational design of ASCT2 inhibitors using an integrated experimental-computational approach Garibsingh, Rachel-Ann A.; Ndaru, Elias; Garaeva, Alisa A.; Shi, Yueyue; Zielewicz, Laura; Zakrepine, Paul; Bonomi, Massimiliano; Slotboom, Dirk J.; Paulino, Cristina; Grewer, Christof; Schlessinger, Avner Share Save
Dual targeting of salt inducible kinases and CSF1R uncouples bone formation and bone resorption Tang, Cheng-Chia; Andrade, Christian D. Castro; O'Meara, Maureen J.; Yoon, Sung-Hee; Sato, Tadatoshi; Brooks, Daniel J.; Bouxsein, Mary L.; Martins, Janaina da Silva; Wang, Jinhua; Gray, Nathanael S.; Misof, Barbara; Roschger, Paul; Boulin, Stephane; Klaushofer, Klaus; Velduis-Vlug, Annegreet; Vegting, Yosta; Rosen, Clifford J.; O'Connell, Daniel; Sundberg, Thomas B.; Xavier, Ramnik J.; Ung, Peter; Schlessinger, Avner; Kronenberg, Henry M.; Berdeaux, Rebecca; Foretz, Marc; Wein, Marc N. Share Save