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

por 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
Publicado 2011

De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues

por Smits, Daphne J., Schot, Rachel, Popescu, Cristiana A., Dias, Kerith-Rae, Ades, Lesley, Briere, Lauren C., Sweetser, David A., Kushima, Itaru, Aleksic, Branko, Khan, Suliman, Karageorgou, Vasiliki, Ordonez, Natalia, Sleutels, Frank J. G. T., van der Kaay, Daniëlle C. M., Van Mol, Christine, Van Esch, Hilde, Bertoli-Avella, Aida M., Roscioli, Tony, Mancini, Grazia M. S.
Publicado 2023

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

por 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.
Publicado 2018

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

por 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
Publicado 2011

Germline AGO2 mutations impair RNA interference and human neurological development

por 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
Publicado 2020