Identification of Type 1 Diabetes–Associated DNA Methylation Variable Positions That Precede Disease Diagnosis

od Rakyan, Vardhman K., Beyan, Huriya, Down, Thomas A., Hawa, Mohammed I., Maslau, Siarhei, Aden, Deeqo, Daunay, Antoine, Busato, Florence, Mein, Charles A., Manfras, Burkhard, Dias, Kerith-Rae M., Bell, Christopher G., Tost, Jörg, Boehm, Bernhard O., Beck, Stephan, Leslie, R. David
Izdano 2011

A de novo mutation in the Sodium-Activated Potassium channel KCNT2 alters ion selectivity and causes epileptic encephalopathy

od Gururaj, Sushmitha, Palmer, Elizabeth Emma, Sheehan, Garrett D, Kandula, Tejaswi, Macintosh, Rebecca, Ying, Kevin, Morris, Paula, Tao, Jiang, Dias, Kerith-Rae, Zhu, Ying, Dinger, Marcel E., Cowley, Mark J., Kirk, Edwin P, Roscioli, Tony, Sachdev, Rani, Duffey, Michael E, Bye, Ann, Bhattacharjee, Arin
Izdano u Cell Rep (2017)

Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness

od Palmer, Elizabeth E., Schofield, Deborah, Shrestha, Rupendra, Kandula, Tejaswi, Macintosh, Rebecca, Lawson, John A., Andrews, Ian, Sampaio, Hugo, Johnson, Alexandra M., Farrar, Michelle A., Cardamone, Michael, Mowat, David, Elakis, George, Lo, William, Zhu, Ying, Ying, Kevin, Morris, Paula, Tao, Jiang, Dias, Kerith‐Rae, Buckley, Michael, Dinger, Marcel E., Cowley, Mark J., Roscioli, Tony, Kirk, Edwin P., Bye, Ann, Sachdev, Rani K.
Izdano u Mol Genet Genomic Med (2018)

A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures

od Gennarino, Vincenzo A., Palmer, Elizabeth E., McDonell, Laura M., Wang, Li, Adamski, Carolyn J., Koire, Amanda, See, Lauren, Chen, Chun-An, Schaaf, Christian P., Rosenfeld, Jill A., Panzer, Jessica A., Moog, Ute, Hao, Shuang, Bye, Ann, Kirk, Edwin P., Stankiewicz, Pawel, Breman, Amy M., McBride, Arran, Kandula, Tejaswi, Dubbs, Holly A., Macintosh, Rebecca, Cardamone, Michael, Zhu, Ying, Ying, Kevin, Dias, Kerith-Rae, Cho, Megan T., Henderson, Lindsay B., Baskin, Berivan, Morris, Paula, Tao, Jiang, Cowley, Mark J., Dinger, Marcel E., Roscioli, Tony, Caluseriu, Oana, Suchowersky, Oksana, Sachdev, Rani K., Lichtarge, Olivier, Tang, Jianrong, Boycott, Kym M., Holder, J. Lloyd, Zoghbi, Huda Y.
Izdano u Cell (2018)

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

od Trynka, Gosia, Hunt, Karen A, Bockett, Nicholas A, Romanos, Jihane, Mistry, Vanisha, Szperl, Agata, Bakker, Sjoerd F, Bardella, Maria Teresa, Bhaw-Rosun, Leena, Castillejo, Gemma, de la Concha, Emilio G., de Almeida, Rodrigo Coutinho, Dias, Kerith-Rae M, van Diemen, Cleo C., Dubois, Patrick CA, Duerr, Richard H., Edkins, Sarah, Franke, Lude, Fransen, Karin, Gutierrez, Javier, Heap, Graham AR, Hrdlickova, Barbara, Hunt, Sarah, Izurieta, Leticia Plaza, Izzo, Valentina, Joosten, Leo AB, Langford, Cordelia, Mazzilli, Maria Cristina, Mein, Charles A, Midah, Vandana, Mitrovic, Mitja, Mora, Barbara, Morelli, Marinita, Nutland, Sarah, Núñez, Concepción, Onengut-Gumuscu, Suna, Pearce, Kerra, Platteel, Mathieu, Polanco, Isabel, Potter, Simon, Ribes-Koninckx, Carmen, Ricaño-Ponce, Isis, Rich, Stephen S., Rybak, Anna, Santiago, José Luis, Senapati, Sabyasachi, Sood, Ajit, Szajewska, Hania, Troncone, Riccardo, Varadé, Jezabel, Wallace, Chris, Wolters, Victorien M, Zhernakova, Alexandra, Thelma, B.K., Cukrowska, Bozena, Urcelay, Elena, Bilbao, Jose Ramon, Mearin, M Luisa, Barisani, Donatella, Barrett, Jeffrey C, Plagnol, Vincent, Deloukas, Panos, Wijmenga, Cisca, van Heel, David A
Izdano 2011

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

od Hunt, Karen A, Smyth, Deborah J, Balschun, Tobias, Ban, Maria, Mistry, Vanisha, Ahmed, Tariq, Anand, Vidya, Barrett, Jeffrey C, Bhaw-Rosun, Leena, Bockett, Nicholas A, Brand, Oliver J, Brouwer, Elisabeth, Concannon, Patrick, Cooper, Jason D, Dias, Kerith-Rae M, van Diemen, Cleo C, Dubois, Patrick C, Edkins, Sarah, Fölster-Holst, Regina, Fransen, Karin, Glass, David N., Heap, Graham AR, Hofmann, Sylvia, Huizinga, Tom WJ, Hunt, Sarah, Langford, Cordelia, Lee, James, Mansfield, John, Marrosu, Maria Giovanna, Mathew, Christopher G, Mein, Charles A, Müller-Quernheim, Joachim, Nutland, Sarah, Onengut-Gumuscu, Suna, Ouwehand, Willem, Pearce, Kerra, Prescott, Natalie, Posthumus, Marcel D, Potter, Simon, Rosati, Giulio, Sambrook, Jennifer, Satsangi, Jack, Schreiber, Stefan, Shtir, Corina, Simmonds, Matthew J, Sudman, Marc, Thompson, Susan D, Toes, Rene, Trynka, Gosia, Vyse, Timothy J, Walker, Neil M, Weidinger, Stephan, Zhernakova, Alexandra, Zoledziewska, Magdalena, Weersma, Rinse K, Gough, Stephen CL, Sawcer, Stephen, Wijmenga, Cisca, Parkes, Miles, Cucca, Francesco, Franke, Andre, Deloukas, Panos, Rich, Stephen S., Todd, John A, van Heel, David A
Izdano 2011

Germline AGO2 mutations impair RNA interference and human neurological development

od Lessel, Davor, Zeitler, Daniela M., Reijnders, Margot R. F., Kazantsev, Andriy, Hassani Nia, Fatemeh, Bartholomäus, Alexander, Martens, Victoria, Bruckmann, Astrid, Graus, Veronika, McConkie-Rosell, Allyn, McDonald, Marie, Lozic, Bernarda, Tan, Ee-Shien, Gerkes, Erica, Johannsen, Jessika, Denecke, Jonas, Telegrafi, Aida, Zonneveld-Huijssoon, Evelien, Lemmink, Henny H., Cham, Breana W. M., Kovacevic, Tanja, Ramsdell, Linda, Foss, Kimberly, Le Duc, Diana, Mitter, Diana, Syrbe, Steffen, Merkenschlager, Andreas, Sinnema, Margje, Panis, Bianca, Lazier, Joanna, Osmond, Matthew, Hartley, Taila, Mortreux, Jeremie, Busa, Tiffany, Missirian, Chantal, Prasun, Pankaj, Lüttgen, Sabine, Mannucci, Ilaria, Lessel, Ivana, Schob, Claudia, Kindler, Stefan, Pappas, John, Rabin, Rachel, Willemsen, Marjolein, Gardeitchik, Thatjana, Löhner, Katharina, Rump, Patrick, Dias, Kerith-Rae, Evans, Carey-Anne, Andrews, Peter Ian, Roscioli, Tony, Brunner, Han G., Chijiwa, Chieko, Lewis, M. E. Suzanne, Jamra, Rami Abou, Dyment, David A., Boycott, Kym M., Stegmann, Alexander P. A., Kubisch, Christian, Tan, Ene-Choo, Mirzaa, Ghayda M., McWalter, Kirsty, Kleefstra, Tjitske, Pfundt, Rolph, Ignatova, Zoya, Meister, Gunter, Kreienkamp, Hans-Jürgen
Izdano u Nat Commun (2020)