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
Extensive variation in the intelectin gene family in laboratory and wild mouse strains.
Scientific Reports
Almalki, Faisal F; Nonnecke, Eric B EB; Castillo, Patricia A PA; Bevin-Holder, Alex A; Ullrich, Kristian K KK; Lönnerdal, Bo B; Odenthal-Hesse, Linda L; Bevins, Charles L CL; Hollox, Edward J EJ
Human intelectin-1 (ITLN1) genetic variation and intestinal expression.
Scientific Reports
Nonnecke, Eric B EB; Castillo, Patricia A PA; Dugan, Amanda E AE; Almalki, Faisal F; Underwood, Mark A MA; De La Motte, Carol A CA; Yuan, Weirong W; Lu, Wuyuan W; Shen, Bo B; Johansson, Malin E V MEV; Kiessling, Laura L LL; Hollox, Edward J EJ; Lönnerdal, Bo B; Bevins, Charles L CL
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Fine-mapping inflammatory bowel disease loci to single-variant resolution.
Nature
Huang, Hailiang H; Fang, Ming M; Jostins, Luke L; Umićević Mirkov, Maša M; Boucher, Gabrielle G; Anderson, Carl A CA; Andersen, Vibeke V; Cleynen, Isabelle I; Cortes, Adrian A; Crins, François F; D'Amato, Mauro M; Deffontaine, Valérie V; Dmitrieva, Julia J; Docampo, Elisa E; Elansary, Mahmoud M; Farh, Kyle Kai-How KK; Franke, Andre A; Gori, Ann-Stephan AS; Goyette, Philippe P; Halfvarson, Jonas J; Haritunians, Talin T; Knight, Jo J; Lawrance, Ian C IC; Lees, Charlie W CW; Louis, Edouard E; Mariman, Rob R; Meuwissen, Theo T; Mni, Myriam M; Momozawa, Yukihide Y; Parkes, Miles M; Spain, Sarah L SL; Théâtre, Emilie E; Trynka, Gosia G; Satsangi, Jack J; van Sommeren, Suzanne S; Vermeire, Severine S; Xavier, Ramnik J RJ; , ; Weersma, Rinse K RK; Duerr, Richard H RH; Mathew, Christopher G CG; Rioux, John D JD; McGovern, Dermot P B DPB; Cho, Judy H JH; Georges, Michel M; Daly, Mark J MJ; Barrett, Jeffrey C JC
Blood and Intestine eQTLs from an Anti-TNF-Resistant Crohn's Disease Cohort Inform IBD Genetic Association Loci.
Clinical And Translational Gastroenterology
Di Narzo, Antonio F AF; Peters, Lauren A LA; Argmann, Carmen C; Stojmirovic, Aleksandar A; Perrigoue, Jacqueline J; Li, Katherine K; Telesco, Shannon S; Kidd, Brian B; Walker, Jennifer J; Dudley, Joel J; Cho, Judy J; Schadt, Eric E EE; Kasarskis, Andrew A; Curran, Mark M; Dobrin, Radu R; Hao, Ke K
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Novel genes in Human Asthma Based on a Mouse Model of Allergic Airway Inflammation and Human Investigations.
Allergy, Asthma & Immunology Research
Temesi, Gergely G; Virág, Viktor V; Hadadi, Eva E; Ungvári, Ildikó I; Fodor, Lili E LE; Bikov, András A; Nagy, Adrienne A; Gálffy, Gabriella G; Tamási, Lilla L; Horváth, Ildikó I; Kiss, András A; Hullám, Gábor G; Gézsi, András A; Sárközy, Péter P; Antal, Péter P; Buzás, Edit E; Szalai, Csaba C
Nalls, Mike A MA; Saad, Mohamad M; Noyce, Alastair J AJ; Keller, Margaux F MF; Schrag, Anette A; Bestwick, Jonathan P JP; Traynor, Bryan J BJ; Gibbs, J Raphael JR; Hernandez, Dena G DG; Cookson, Mark R MR; Morris, Huw R HR; Williams, Nigel N; Gasser, Thomas T; Heutink, Peter P; Wood, Nick N; Hardy, John J; Martinez, Maria M; Singleton, Andrew B AB; , ; , ; , ; ,
Genome-wide association identifies multiple ulcerative colitis susceptibility loci.
Nature Genetics
McGovern, Dermot P B DP; Gardet, Agnès A; Törkvist, Leif L; Goyette, Philippe P; Essers, Jonah J; Taylor, Kent D KD; Neale, Benjamin M BM; Ong, Rick T H RT; Lagacé, Caroline C; Li, Chun C; Green, Todd T; Stevens, Christine R CR; Beauchamp, Claudine C; Fleshner, Phillip R PR; Carlson, Marie M; D'Amato, Mauro M; Halfvarson, Jonas J; Hibberd, Martin L ML; Lördal, Mikael M; Padyukov, Leonid L; Andriulli, Angelo A; Colombo, Elisabetta E; Latiano, Anna A; Palmieri, Orazio O; Bernard, Edmond-Jean EJ; Deslandres, Colette C; Hommes, Daan W DW; de Jong, Dirk J DJ; Stokkers, Pieter C PC; Weersma, Rinse K RK; , ; Sharma, Yashoda Y; Silverberg, Mark S MS; Cho, Judy H JH; Wu, Jing J; Roeder, Kathryn K; Brant, Steven R SR; Schumm, L Phillip LP; Duerr, Richard H RH; Dubinsky, Marla C MC; Glazer, Nicole L NL; Haritunians, Talin T; Ippoliti, Andy A; Melmed, Gil Y GY; Siscovick, David S DS; Vasiliauskas, Eric A EA; Targan, Stephan R SR; Annese, Vito V; Wijmenga, Cisca C; Pettersson, Sven S; Rotter, Jerome I JI; Xavier, Ramnik J RJ; Daly, Mark J MJ; Rioux, John D JD; Seielstad, Mark M
Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions.
Plos Genetics
Raychaudhuri, Soumya S; Plenge, Robert M RM; Rossin, Elizabeth J EJ; Ng, Aylwin C Y AC; , ; Purcell, Shaun M SM; Sklar, Pamela P; Scolnick, Edward M EM; Xavier, Ramnik J RJ; Altshuler, David D; Daly, Mark J MJ
Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship.
Gastroenterology
Anderson, Carl A CA; Massey, Dunecan C O DC; Barrett, Jeffrey C JC; Prescott, Natalie J NJ; Tremelling, Mark M; Fisher, Sheila A SA; Gwilliam, Rhian R; Jacob, Jemima J; Nimmo, Elaine R ER; Drummond, Hazel H; Lees, Charlie W CW; Onnie, Clive M CM; Hanson, Catherine C; Blaszczyk, Katarzyna K; Ravindrarajah, Radhi R; Hunt, Sarah S; Varma, Dhiraj D; Hammond, Naomi N; Lewis, Gregory G; Attlesey, Heather H; Watkins, Nick N; Ouwehand, Willem W; Strachan, David D; McArdle, Wendy W; Lewis, Cathryn M CM; , ; Lobo, Alan A; Sanderson, Jeremy J; Jewell, Derek P DP; Deloukas, Panos P; Mansfield, John C JC; Mathew, Christopher G CG; Satsangi, Jack J; Parkes, Miles M
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
Nature Genetics
Barrett, Jeffrey C JC; Hansoul, Sarah S; Nicolae, Dan L DL; Cho, Judy H JH; Duerr, Richard H RH; Rioux, John D JD; Brant, Steven R SR; Silverberg, Mark S MS; Taylor, Kent D KD; Barmada, M Michael MM; Bitton, Alain A; Dassopoulos, Themistocles T; Datta, Lisa Wu LW; Green, Todd T; Griffiths, Anne M AM; Kistner, Emily O EO; Murtha, Michael T MT; Regueiro, Miguel D MD; Rotter, Jerome I JI; Schumm, L Philip LP; Steinhart, A Hillary AH; Targan, Stephan R SR; Xavier, Ramnik J RJ; , ; Libioulle, Cécile C; Sandor, Cynthia C; Lathrop, Mark M; Belaiche, Jacques J; Dewit, Olivier O; Gut, Ivo I; Heath, Simon S; Laukens, Debby D; Mni, Myriam M; Rutgeerts, Paul P; Van Gossum, André A; Zelenika, Diana D; Franchimont, Denis D; Hugot, Jean-Pierre JP; de Vos, Martine M; Vermeire, Severine S; Louis, Edouard E; , ; , ; Cardon, Lon R LR; Anderson, Carl A CA; Drummond, Hazel H; Nimmo, Elaine E; Ahmad, Tariq T; Prescott, Natalie J NJ; Onnie, Clive M CM; Fisher, Sheila A SA; Marchini, Jonathan J; Ghori, Jilur J; Bumpstead, Suzannah S; Gwilliam, Rhian R; Tremelling, Mark M; Deloukas, Panos P; Mansfield, John J; Jewell, Derek D; Satsangi, Jack J; Mathew, Christopher G CG; Parkes, Miles M; Georges, Michel M; Daly, Mark J MJ