Not logged in Single-Molecule Real-Time Sequencing for MUC1 VNTR Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis Vrbacka, Alena; Pristoupilova, Anna; Kidd, Kendrah O.; Janousek, Vaclav; Radina, Martin; Vyletal, Petr; Bitar, Ibrahim; Stranecky, Viktor; Steiner-Mrazova, Lenka; Treslova, Helena; Sovova, Jana; Hodanova, Katerina; Hartmannova, Hana; Musalkova, Dita; Svojsova, Klara; Kmochova, Tereza; Baresova, Veronika; Bleyer, Heidi; Taylor, Abby; Martin, Lauren; Sanchez, Antonio; Rysava, Romana; Lajtmanova, Innet; Rajnochova-Bloudickova, Silvie; Viklicky, Ondrej; Papagregoriou, Gregory; Deltas, Constantinos; Stavrou, Christoforos; Jorge, Sofia; Lopes, Jose Antonio; Rodrigues, Marcia; Elhassan, Elhussein; Clince, Michelle; Rowan, Colm; Conlon, Peter; Teltsh, Omri; Cavalleri, Gianpiero L.; Blumenstiel, Brendan; Toledo, Diana; DiStefano, Marina; DeFelice, Matthew; Zivna, Martina; Bleyer, Anthony J.; Kmoch, Stanislav Share Save
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A genetic perspective on the recent demographic history of Ireland and Britain Shanmugam, Ashwini; Merrigan, Michael; O'Reilly, Seamus; Molloy, Anne M.; Brody, Lawrence; Hardiman, Orla; Bodmer, Walter; Mclaughlin, Russell L.; Cavalleri, Gianpiero L.; Byrne, Ross P.; Gilbert, Edmund H. Share Save
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Corroborating written history with ancient DNA: The case of the Well-man described in an Old Norse saga Ellegaard, Martin R.; Ebenesersdottir, S. Sunna; Moore, Kristjan H. S.; Petersen, Anna; Vagene, Ashild J.; Bieker, Vanessa C.; Denham, Sean D.; Cavalleri, Gianpiero L.; Gilbert, Edmund; Werge, Thomas; Hansen, Thomas F.; Alfredsson, Lars; Olsson, Tomas; Hovig, Eivind; Gilbert, M. Thomas P.; Stefansson, Kari; Stenoien, Hans K.; Helgason, Agnar; Martin, Michael D. Share Save
The prevalence of MUC5B variant and survival of patients with interstitial lung disease in Ireland: A multi-centre cohort study Carolan, Aoife; Logan, Niamh; Musameh, Khaled; O'Brien, Helen; Osaki, Mari; Ng, Wan Lin; Jasmin, Jisha; Pantring, Fiona; Benson, Katherine; Gilbert, Edmund; Cavalleri, Ganpiero; Schwartz, David A.; Mccarthy, Cormac; Keane, Michael P.; Henry, Michael T.; Hurley, Killian Share Save
Characterization of Y chromosome diversity in newfoundland and labrador: evidence for a structured founding population Zurel, Heather; Bherer, Claude; Batten, Ryan; Macmillan, Margaret E.; Demiriz, Sedat; Mirhendi, Sadra; Gilbert, Edmund; Cavalleri, Gianpiero L.; Leach, Richard A.; Scott, Roderick E. M.; Mugford, Gerald; Randhawa, Ranjit; Symington, Alison L.; Stephens, J. Claiborne; Phillips, Michael S. Share Save
A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis Elhassan, Elhussein A. E.; Kmochova, Tereza; Benson, Katherine A.; Fennelly, Neil K.; Baresova, Veronika; Kidd, Kendrah; Doyle, Brendan; Dorman, Anthony; Morrin, Martina M.; Kyne, Niamh C.; Vyletal, Petr; Hartmannova, Hana; Hodanova, Katerina; Sovova, Jana; Musalkova, Dita; Vrbacka, Alena; Pristoupilova, Anna; Zivny, Jan; Svojsova, Klara; Radina, Martin; Stranecky, Viktor; Loginov, Dmitry; Pompach, Petr; Novak, Petr; Vanickova, Zdislava; Hansikova, Hana; Rajnochova-Bloudickova, Silvie; Viklicky, Ondrej; Hulkova, Helena; Cavalleri, Gianpiero L.; Hnizda, Ales; Bleyer, Anthony J.; Kmoch, Stanislav; Conlon, Peter J.; Zivna, Martina Share Save
Familial Variability of Disease Severity in Adult Patients With ADPKD Elhassan, Elhussein A. E.; O'Kelly, Patrick; Collins, Kane E.; Teltsh, Omri; Ciurli, Francesca; Murray, Susan L.; Kennedy, Claire; Madden, Stephen F.; Benson, Katherine A.; Cavalleri, Gianpiero L.; Conlon, Peter J. Share Save
Functional EPAS1/HIF2A missense variant is associated with hematocrit in Andean highlanders Lawrence, Elijah S.; Gu, Wanjun; Bohlender, Ryan J.; Anza-Ramirez, Cecilia; Cole, Amy M.; Yu, James J.; Hu, Hao; Heinrich, Erica C.; O'Brien, Katie A.; Vasquez, Carlos A.; Cowan, Quinn T.; Bruck, Patrick T.; Mercader, Kysha; Alotaibi, Mona; Long, Tao; Hall, James E.; Moya, Esteban A.; Bauk, Marco A.; Reeves, Jennifer J.; Kong, Mitchell C.; Salem, Rany M.; Vizcardo-Galindo, Gustavo; Macarlupu, Jose-Luis; Figueroa-Mujica, Romulo; Bermudez, Daniela; Corante, Noemi; Gaio, Eduardo; Fox, Keolu P.; Salomaa, Veikko; Havulinna, Aki S.; Murray, Andrew J.; Malhotra, Atul; Powel, Frank L.; Jain, Mohit; Komor, Alexis C.; Cavalleri, Gianpiero L.; Huff, Chad D.; Villafuerte, Francisco C.; Simonson, Tatum S. Share Save
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Updates in SJS/TEN: collaboration, innovation, and community Marks, Madeline E.; Botta, Ramya Krishna; Abe, Riichiro; Beachkofsky, Thomas M.; Boothman, Isabelle; Carleton, Bruce C.; Chung, Wen-Hung; Cibotti, Ricardo R.; Dodiuk-Gad, Roni P.; Grimstein, Christian; Hasegawa, Akito; Hoofnagle, Jay H.; Hung, Shuen-Iu; Kaffenberger, Benjamin; Kroshinsky, Daniela; Lehloenya, Rannakoe J.; Martin-Pozo, Michelle; Micheletti, Robert G.; Mockenhaupt, Maja; Nagao, Keisuke; Pakala, Suman; Palubinsky, Amy; Pasieka, Helena B.; Peter, Jonathan; Pirmohamed, Munir; Reyes, Melissa; Saeed, Hajirah N.; Shupp, Jeffery; Sukasem, Chonlaphat; Syu, Jhih Yu; Ueta, Mayumi; Zhou, Li; Chang, Wan-Chun; Becker, Patrice; Bellon, Teresa; Bonnet, Kemberlee; Cavalleri, Gianpiero; Chodosh, James; Dewan, Anna K.; Dominguez, Arturo; Dong, Xinzhong; Ezhkova, Elena; Fuchs, Esther; Goldman, Jennifer; Himed, Sonia; Mallal, Simon; Markova, Alina; McCawley, Kerry; Norton, Allison E.; Ostrov, David; Phan, Michael; Sanford, Arthur; Schlundt, David; Schneider, Daniel; Shear, Neil; Shinkai, Kanade; Tkaczyk, Eric; Trubiano, Jason A.; Volpi, Simona; Bouchard, Charles S.; Divito, Sherrie J.; Phillips, Elizabeth J. Share Save
Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin Boothman, Isabelle; Clayton, Lisa M.; McCormack, Mark; Driscoll, Alexandra McKibben; Stevelink, Remi; Moloney, Patrick; Krause, Roland; Kunz, Wolfram S.; Diehl, Sarah; O'Brien, Terence J.; Sills, Graeme J.; de Haan, Gerrit-Jan; Zara, Federico; Koeleman, Bobby P.; Depondt, Chantal; Marson, Anthony G.; Stefansson, Hreinn; Stefansson, Kari; Craig, John; Johnson, Michael R.; Striano, Pasquale; Lerche, Holger; Furney, Simon J.; Delanty, Norman; Sisodiya, Sanjay M.; Cavalleri, Gianpiero L. Share Save
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture Stevelink, Remi; Campbell, Ciaran; Chen, Siwei; Abou-Khalil, Bassel; Adesoji, Oluyomi M.; Afawi, Zaid; Amadori, Elisabetta; Anderson, Alison; Anderson, Joseph; Andrade, Danielle M.; Annesi, Grazia; Auce, Pauls; Avbersek, Andreja; Bahlo, Melanie; Baker, Mark D.; Balagura, Ganna; Balestrini, Simona; Barba, Carmen; Barboza, Karen; Bartolomei, Fabrice; Bast, Thomas; Baum, Larry; Baumgartner, Tobias; Baykan, Betul; Bebek, Nerses; Becker, Albert J.; Becker, Felicitas; Bennett, Caitlin A.; Berghuis, Bianca; Berkovic, Samuel F.; Beydoun, Ahmad; Bianchini, Claudia; Bisulli, Francesca; Blatt, Ilan; Bobbili, Dheeraj R.; Borggraefe, Ingo; Bosselmann, Christian; Braatz, Vera; Bradfield, Jonathan P.; Brockmann, Knut; Brody, Lawrence C.; Buono, Russell J.; Busch, Robyn M.; Caglayan, Hande; Campbell, Ellen; Canafoglia, Laura; Canavati, Christina; Cascino, Gregory D.; Castellotti, Barbara; Catarino, Claudia B.; Cavalleri, Gianpiero L.; Cerrato, Felecia; Chassoux, Francine; Cherny, Stacey S.; Cheung, Ching-Lung; Chinthapalli, Krishna; Chou, I-Jun; Chung, Seo-Kyung; Churchhouse, Claire; Clark, Peggy O.; Cole, Andrew J.; Compston, Alastair; Coppola, Antonietta; Cosico, Mahgenn; Cossette, Patrick; Craig, John J.; Cusick, Caroline; Daly, Mark J.; Davis, Lea K.; de Haan, Gerrit-Jan; Delanty, Norman; Depondt, Chantal; Derambure, Philippe; Devinsky, Orrin; Di Vito, Lidia; Dlugos, Dennis J.; Doccini, Viola; Doherty, Colin P.; El-Naggar, Hany; Elger, Christian E.; Ellis, Colin A.; Eriksson, Johan G.; Faucon, Annika; Feng, Yen-Chen A.; Ferguson, Lisa; Ferraro, Thomas N.; Ferri, Lorenzo; Feucht, Martha; Fitzgerald, Mark; Fonferko-Shadrach, Beata; Fortunato, Francesco; Franceschetti, Silvana; Franke, Andre; French, Jacqueline A.; Freri, Elena; Gagliardi, Monica; Gambardella, Antonio; Geller, Eric B.; Giangregorio, Tania; Gjerstad, Leif; Glauser, Tracy; Goldberg, Ethan; Goldman, Alicia; Granata, Tiziana; Greenberg, David A.; Guerrini, Renzo; Gupta, Namrata; Haas, Kevin F.; Hakonarson, Hakon; Hallmann, Kerstin; Hassanin, Emadeldin; Hegde, Manu; Heinzen, Erin L.; Helbig, Ingo; Hengsbach, Christian; Heyne, Henrike O.; Hirose, Shinichi; Hirsch, Edouard; Hjalgrim, Helle; Howrigan, Daniel P.; Hucks, Donald; Hung, Po-Cheng; Iacomino, Michele; Imbach, Lukas L.; Inoue, Yushi; Ishii, Atsushi; Jamnadas-Khoda, Jennifer; Jehi, Lara; Johnson, Michael R.; Kalviainen, Reetta; Kamatani, Yoichiro; Kanaan, Moien; Kanai, Masahiro; Kantanen, Anne-Mari; Kara, Bulent; Kariuki, Symon M.; Kasperaviciute, Dalia; Trenite, Dorothee Kasteleijn-Nolst; Kato, Mitsuhiro; Kegele, Josua; Kesim, Yescommaim; Khoueiry-Zgheib, Nathalie; King, Chontelle; Kirsch, Heidi E.; Klein, Karl M.; Kluger, Gerhard; Knake, Susanne; Knowlton, Robert C.; Koeleman, Bobby P. C.; Korczyn, Amos D.; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Krenn, Martin; Krestel, Heinz; Krey, Ilona; Kunz, Wolfram S.; Kurki, Mitja I.; Kurlemann, Gerhard; Kuzniecky, Ruben; Kwan, Patrick; Labate, Angelo; Lacey, Austin; Lal, Dennis; Landoulsi, Zied; Lau, Yu-Lung; Lauxmann, Stephen; Leech, Stephanie L.; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Lesca, Gaetan; Leu, Costin; Lewin, Naomi; Lewis-Smith, David; Li, Gloria H. -Y.; Li, Qingqin S.; Licchetta, Laura; Lin, Kuang-Lin; Lindhout, Dick; Linnankivi, Tarja; Lopes-Cendes, Iscia; Lowenstein, Daniel H.; Lui, Colin H. T.; Madia, Francesca; Magnusson, Sigurdur; Marson, Anthony G.; May, Patrick; McGraw, Christopher M.; Mei, Davide; Mills, James L.; Minardi, Raffaella; Mirza, Nasir; Moller, Rikke S.; Molloy, Anne M.; Montomoli, Martino; Mostacci, Barbara; Muccioli, Lorenzo; Muhle, Hiltrud; Mueller-Schlueter, Karen; Najm, Imad M.; Nasreddine, Wassim; Neale, Benjamin M.; Neubauer, Bernd; Newton, Charles R. J. C.; Noethen, Markus M.; Nothnagel, Michael; Nuernberg, Peter; O'Brien, Terence J.; Okada, Yukinori; Olafsson, Elias; Oliver, Karen L.; Ozkara, Cigdem; Palotie, Aarno; Pangilinan, Faith; Papacostas, Savvas S.; Parrini, Elena; Pato, Carlos N.; Pato, Michele T.; Pendziwiat, Manuela; Petrovski, Slave; Pickrell, William O.; Pinsky, Rebecca; Pippucci, Tommaso; Poduri, Annapurna; Pondrelli, Federica; Powell, Rob H. W.; Privitera, Michael; Rademacher, Annika; Radtke, Rodney; Ragona, Francesca; Rau, Sarah; Rees, Mark I.; Regan, Brigid M.; Reif, Philipp S.; Rhelms, Sylvain; Riva, Antonella; Rosenow, Felix; Ryvlin, Philippe; Saarela, Anni; Sadleir, Lynette G.; Sander, Josemir W.; Sander, Thomas; Scala, Marcello; Scattergood, Theresa; Schachter, Steven C.; Schankin, Christoph J.; Scheffer, Ingrid E.; Schmitz, Bettina; Schoch, Susanne; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Scudieri, Paolo; Sham, Pak; Sheidley, Beth R.; Shih, Jerry J.; Sills, Graeme J.; Sisodiya, Sanjay M.; Smith, Michael C.; Smith, Philip E.; Sonsma, Anja C. M.; Speed, Doug; Sperling, Michael R.; Stefansson, Hreinn; Stefansson, Kari; Steinhoff, Bernhard J.; Stephani, Ulrich; Stewart, William C.; Stipa, Carlotta; Striano, Pasquale; Stroink, Hans; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Tan, K. Meng; Taneja, R. S.; Tanteles, George A.; Tauboll, Erik; Thio, Liu Lin; Thomas, G. Neil; Thomas, Rhys H.; Timonen, Oskari; Tinuper, Paolo; Todaro, Marian; Topaloglu, Pinar; Tozzi, Rossana; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Unnsteinsdottir, Unnur; Utkus, Algirdas; Vaidiswaran, Priya; Valton, Luc; van Baalen, Andreas; Vetro, Annalisa; Vining, Eileen P. G.; Visscher, Frank; von Brauchitsch, Sophie; von Wrede, Randi; Wagner, Ryan G.; Weber, Yvonne G.; Weckhuysen, Sarah; Weisenberg, Judith; Weller, Michael; Widdess-Walsh, Peter; Wolff, Markus; Wolking, Stefan; Wu, David; Yamakawa, Kazuhiro; Yang, Wanling; Yapici, Zuhal; Yucesan, Emrah; Zagaglia, Sara; Zahnert, Felix; Zara, Federico; Zhou, Wei; Zimprich, Fritz; Zsurka, Gabor; Ali, Quratulain Zulfiqar Share Save
Screening medical students for SARS-CoV-2 to facilitate face-to-face clinical teaching and prevent onward spread to patients De Santi, C.; Cavalleri, G. L.; Kerrigan, S. W.; Fitzpatrick, F.; McGrogan, K.; Gilroy, J.; Baxter, R.; Quadu, V.; Ryan, K.; Humphreys, H. Share Save
The Newfoundland and Labrador mosaic founder population descends from an Irish and British diaspora from 300 years ago Gilbert, Edmund; Zurel, Heather; MacMillan, Margaret E.; Demiriz, Sedat; Mirhendi, Sadra; Merrigan, Michael; O'Reilly, Seamus; Molloy, Anne M.; Brody, Lawrence C.; Bodmer, Walter; Leach, Richard A.; Scott, Roderick E. M.; Mugford, Gerald; Randhawa, Ranjit; Stephens, J. Claiborne; Symington, Alison L.; Cavalleri, Gianpiero L.; Phillips, Michael S. Share Save
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