Recent advances in the detection of repeat expansions with short-read next-generation sequencing by Bahlo, Melanie, Bennett, Mark F, Degorski, Peter, Tankard, Rick M, Delatycki, Martin B, Lockhart, Paul J

Get full text

Pathogenic Variants in GPC4 Cause Keipert Syndrome by Amor, David J., Stephenson, Sarah E.M., Mustapha, Mirna, Mensah, Martin A., Ockeloen, Charlotte W., Lee, Wei Shern, Tankard, Rick M., Phelan, Dean G., Shinawi, Marwan, de Brouwer, Arjan P.M., Pfundt, Rolph, Dowling, Cari, Toler, Tomi L., Sutton, V. Reid, Agolini, Emanuele, Rinelli, Martina, Capolino, Rossella, Martinelli, Diego, Zampino, Giuseppe, Dumić, Miroslav, Reardon, William, Shaw-Smith, Charles, Leventer, Richard J., Delatycki, Martin B., Kleefstra, Tjitske, Mundlos, Stefan, Mortier, Geert, Bahlo, Melanie, Allen, Nicola J., Lockhart, Paul J.

Get full text

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data by Tankard, Rick M., Bennett, Mark F., Degorski, Peter, Delatycki, Martin B., Lockhart, Paul J., Bahlo, Melanie

Get full text

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25 by Barbier, Mathieu, Bahlo, Melanie, Pennisi, Alessandra, Jacoupy, Maxime, Tankard, Rick M., Ewenczyk, Claire, Davies, Kayli C., Lino‐Coulon, Patricia, Colace, Claire, Rafehi, Haloom, Auger, Nicolas, Ansell, Brendan R. E., Stelt, Ivo, Howell, Katherine B., Coutelier, Marie, Amor, David J., Mundwiller, Emeline, Guillot‐Noël, Lena, Storey, Elsdon, Gardner, R. J. McKinlay, Wallis, Mathew J., Brusco, Alfredo, Corti, Olga, Rötig, Agnès, Leventer, Richard J., Brice, Alexis, Delatycki, Martin B., Stevanin, Giovanni, Lockhart, Paul J., Durr, Alexandra

Get full text

Genetic variants associated with longitudinal changes in brain structure across the lifespan by Grasby, Katrina L, Schnack, Hugo G, Teeuw, Jalmar, Franz, Carol E, Gogtay, Nitin, Olde Loohuis, Loes M, Whelan, Christopher D, Alloza, Clara, Alnæs, Dag, Artiges, Eric, Ayesa-Arriola, Rosa, Bastin, Mark E, Blok, Elisabet, Bülow, Robin, Ciufolini, Simone, Damatac, Christienne G, Díaz-Caneja, Covadonga M, Doan, Nhat Trung, Dohm, Katharina, Grigis, Antoine, Grotegerd, Dominik, Harris, Mathew A, Heslenfeld, Dirk J, Hohmann, Sarah, Ittermann, Bernd, Janssen, Joost, Jia, Tianye, Jiang, Jiyang, Jockwitz, Christiane, Koevoets, Martijn G J C, Lenroot, Rhoshel K, Meinert, Susanne, Morgan, Catherine A, Opel, Nils, de la Foz, Víctor Ortiz-García, Redlich, Ronny, Roberts, Gloria, Roshchupkin, Gennady V, Setiaman, Nikita, Stein, Frederike, Sudre, Gustavo, Tordesillas-Gutiérrez, Diana, Wen, Wei, Wittfeld, Katharina, Zugman, Andre, Bralten, Janita, Dalvie, Shareefa, Davies, Gail, Ding, Linda, Donohoe, Gary, Forstner, Andreas J, Guimaraes, Joao P O F T, Homuth, Georg, Mather, Karen A, Morris, Derek W, Nöthen, Markus M, Santoro, Marcos L, Stein, Jason L, Streit, Fabian, Tankard, Rick M, Teumer, Alexander, van der Meer, Dennis, Vázquez-Bourgon, Javier, Adams, Hieab H H, Agartz, Ingrid, Amunts, Katrin, Arango, Celso, Banaschewski, Tobias, Bressan, Rodrigo A, Crespo-Facorro, Benedicto, Cox, Simon R, Falkai, Peter G, Fisher, Simon E, Fullerton, Janice M, Garavan, Hugh, Hahn, Tim, Heinz, Andreas, Hillegers, Manon, Hoare, Jacqueline, Jansen, Andreas, Malt, Ulrik F, Martinot, Jean-Luc, Mitchell, Philip B, Murray, Robin M, Nees, Frauke, Nenadić, Igor, Oosterlaan, Jaap, Ophoff, Roel A, Penninx, Brenda W J H, Sachdev, Perminder S, Schofield, Peter R, Schumann, Gunter, Shaw, Philip, Stein, Dan J, Walter, Henrik, Westlye, Lars T, White, Tonya, Medland, Sarah E, Franke, Barbara, Hulshoff Pol, Hilleke E

Get full text

Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores by Tesi, Niccolo, Jansen, Iris E, Stringa, Najada, Montrreal, Laura, Antonell, Anna, Franco-Macías, Emilio, Menéndez-González, Manuel, Royo, Jose Luís, Lage, Carmen, Naj, Adam C, Lemstra, Afina W, Benaque, Alba, Benussi, Alberto, Rábano, Alberto, de Mendonça, Alexandre, Arias Pastor, Alfonso, Kok, Almar A L, Espinosa, Ana, Corma-Gómez, Anaïs, Sanabria, Ángela, Haapasalo, Annakaisa, Kinhult Ståhlbom, Anne, Hartmann, Annette M, Spottke, Annika, Borroni, Barbara, Arosio, Beatrice, Nacmias, Benedetta, Nordestgaard, Børge G, Martínez Rodríguez, Carmen, Dufouil, Carole, Holmes, Clive, Aarsland, Dag, Rujescu, Dan, Alcolea, Daniel, Grünblatt, Edna, Dardiotis, Efthimios, Scarpini, Elio, Conti, Elisa, Gelpi, Ellen, Boerwinkle, Eric, Sanchez-Garcia, Florentino, Chêne, Geneviève, Rossi, Giacomina, Spalletta, Gianfranco, Binetti, Giuliano, Bailly, Henri, Zetterberg, Henrik, Appollonio, Ildebrando, Giegling, Ina, Rosas Allende, Irene, Van Dongen, Jasper, Vidal, Jean-Sebastien, Thomassen, Jesper Qvist, Fortea, Juan, Morgan, Kevin, Weinhold, Leonie, Farrer, Lindsay A, Wang, Li-San, Parnetti, Lucilla, Ikram, M Arfan, Tsolaki, Magda, Hulsman, Marc, Pericak-Vance, Margaret A, Esiri, Margaret, Dalmasso, Maria Carolina, Arcaro, Marina, Dichgans, Martin, Ingelsson, Martin, Scherer, Martin, Vyhnalek, Martin, Ewers, Michael, Wagner, Michael, Hiltunen, Mikko, Fornage, Myriam, Seidu, Nazib M, Scarmeas, Nikolaos, Skrobot, Olivia Anna, Lerch, Ondrej, Dionigi Rossi, Paolo, Yang, Qiong, Mayeux, Richard, Vandenberghe, Rik, Kern, Silke, Fostinelli, Silvia, Grimmer, Timo, Jian, Xueqiu, Sánchez-Juan, Pascual, Pastor, Pau, Pérez-Tur, Jordi, Piñol-Ripoll, Gerard, García-Alberca, Jose María, Álvarez, Victoria, Medina, Miguel, Schellenberg, Gerard D, Mather, Karen A, Serrano-Ríos, Manuel, Huisman, Martijn, Clarimón, Jordi, Boada, Mercè, Ramirez, Alfredo

Get full text

Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease by Duperron, Marie‐Gabrielle, Knol, Maria J., Grand, Quentin Le, Evans, Tavia E, Mishra, Aniket, Roshchupkin, Gennady V., Konuma, Takahiro, Tregouët, David Alexandre, Romero, Jose Rafael, Frenzel, Stefan, Luciano, Michelle, Hofer, Edith, Bourgey, Mathieu, Dueker, Nicole D, Delgado, Pilar, Hilal, Saima, Tankard, Rick M., Dubost, Florian, Shin, Jean, Saba, Yasaman, Chen, Christopher, Rundek, Tatjana, Teumer, Alexander, Tsuchida, Ami, Schmidt, Helena, Sachdev, Perminder S., Wen, Wei, Joutel, Anne, Satizabal, Claudia L, Sacco, Ralph, Bourque, Guillaume, Lathrop, Mark, Paus, Tomas, Fernandez‐Cadenas, Israel, Mazoyer, Bernard, Okada, Yukinori, Grabe, Hans J., Mather, Karen A, Schmidt, Reinhold, Ikram, M. Arfan, Tzourio, Christophe, Wardlaw, Joanna M, Seshadri, Sudha, Adams, Hieab H.H., Debette, Stéphanie

Get full text

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss by Marsh, Ashley P L, Lukic, Vesna, Pope, Kate, Bromhead, Catherine, Tankard, Rick, Ryan, Monique M, Yiu, Eppie M, Sim, Joe C H, Delatycki, Martin B, Amor, David J, McGillivray, George, Sherr, Elliott H, Bahlo, Melanie, Leventer, Richard J, Lockhart, Paul J

Get full text

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy by Hildebrand, Michael S., Tankard, Rick, Gazina, Elena V., Damiano, John A., Lawrence, Kate M., Dahl, Hans‐Henrik M., Regan, Brigid M., Shearer, Aiden Eliot, Smith, Richard J. H., Marini, Carla, Guerrini, Renzo, Labate, Angelo, Gambardella, Antonio, Tinuper, Paolo, Lichetta, Laura, Baldassari, Sara, Bisulli, Francesca, Pippucci, Tommaso, Scheffer, Ingrid E., Reid, Christopher A., Petrou, Steven, Bahlo, Melanie, Berkovic, Samuel F.

Get full text