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CNVs conferring risk of autism or schizophrenia affect cognition in controls
Stefansson, Hreinn, Meyer-Lindenberg, Andreas, Steinberg, Stacy, Magnusdottir, Brynja, Morgen, Katrin, Arnarsdottir, Sunna, Bjornsdottir, Gyda, Walters, G. Bragi, Jonsdottir, Gudrun A., Doyle, Orla M., Tost, Heike, Grimm, Oliver, Kristjansdottir, Solveig, Snorrason, Heimir, Davidsdottir, Solveig R., Gudmundsson, Larus J., Jonsson, Gudbjorn F., Stefansdottir, Berglind, Helgadottir, Isafold, Haraldsson, Magnus, Jonsdottir, Birna, Thygesen, Johan H., Schwarz, Adam J., Didriksen, Michael, Stensbøl, Tine B., Brammer, Michael, Kapur, Shitij, Halldorsson, Jonas G., Hreidarsson, Stefan, Saemundsen, Evald, Sigurdsson, Engilbert, Stefansson, Kari
Published in Nature (London) (16.01.2014)
Published in Nature (London) (16.01.2014)
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Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
Logan, Clare V, Szabadkai, György, Sharpe, Jenny A, Parry, David A, Torelli, Silvia, Childs, Anne-Marie, Kriek, Marjolein, Phadke, Rahul, Johnson, Colin A, Roberts, Nicola Y, Bonthron, David T, Pysden, Karen A, Whyte, Tamieka, Munteanu, Iulia, Foley, A Reghan, Wheway, Gabrielle, Szymanska, Katarzyna, Natarajan, Subaashini, Abdelhamed, Zakia A, Morgan, Joanne E, Roper, Helen, Santen, Gijs W E, Niks, Erik H, van der Pol, W Ludo, Lindhout, Dick, Raffaello, Anna, De Stefani, Diego, den Dunnen, Johan T, Sun, Yu, Ginjaar, Ieke, Sewry, Caroline A, Hurles, Matthew, Rizzuto, Rosario, Duchen, Michael R, Muntoni, Francesco, Sheridan, Eamonn
Published in Nature genetics (01.02.2014)
Published in Nature genetics (01.02.2014)
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PPP2R5E: New gene potentially involved in specific learning disorders and myopathy
Musumeci, Antonino, Vinci, Mirella, Verbinnen, Iris, Treccarichi, Simone, Nigliato, Eleonora, Chiavetta, Valeria, Greco, Donatella, Vitello, Girolamo Aurelio, Federico, Concetta, Janssens, Veerle, Saccone, Salvatore, Calì, Francesco
Published in Gene (15.01.2025)
Published in Gene (15.01.2025)
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Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability
Hunt, David, Leventer, Richard J, Simons, Cas, Taft, Ryan, Swoboda, Kathryn J, Gawne-Cain, Mary, Magee, Alex C, Turnpenny, Peter D, Baralle, Diana
Published in Journal of medical genetics (01.12.2014)
Published in Journal of medical genetics (01.12.2014)
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Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations
Tatton-Brown, Katrina, Douglas, Jenny, Coleman, Kim, Baujat, Geneviève, Cole, Trevor R.P., Das, Soma, Horn, Denise, Hughes, Helen E., Temple, I. Karen, Faravelli, Francesca, Waggoner, Darrel, Türkmen, Seval, Cormier-Daire, Valérie, Irrthum, Alexandre, Rahman, Nazneen
Published in American journal of human genetics (01.08.2005)
Published in American journal of human genetics (01.08.2005)
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5q11.2 deletion syndrome revisited—Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome
Bayat, Allan, Bayat, Michael, Broers, Chantal, Polstra, Abeltje M., Zwijnenburg, Petra J. G., Hjortshøj, Tina Duelund
Published in American journal of medical genetics. Part A (01.12.2021)
Published in American journal of medical genetics. Part A (01.12.2021)
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Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability
Pagnamenta, Alistair T, Khan, Hameed, Walker, Susan, Gerrelli, Dianne, Wing, Kirsty, Bonaglia, Maria Clara, Giorda, Roberto, Berney, Tom, Mani, Elisa, Molteni, Massimo, Pinto, Dalila, Le Couteur, Ann, Hallmayer, Joachim, Sutcliffe, James S, Szatmari, Peter, Paterson, Andrew D, Scherer, Stephen W, Vieland, Veronica J, Monaco, Anthony P
Published in Journal of medical genetics (01.01.2011)
Published in Journal of medical genetics (01.01.2011)
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Genetic polymorphisms of 5-HTT and DAT but not COMT differentially affect verbal and visuospatial working memory functioning
Zilles, David, Meyer, Jobst, Schneider-Axmann, Thomas, Ekawardhani, Savira, Gruber, Eva, Falkai, Peter, Gruber, Oliver
Published in European archives of psychiatry and clinical neuroscience (01.12.2012)
Published in European archives of psychiatry and clinical neuroscience (01.12.2012)
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Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome
Brinckman, Danielle D., Keppler-Noreuil, Kim M., Blumhorst, Catherine, Biesecker, Leslie G., Sapp, Julie C., Johnston, Jennifer J., Wiggs, Edythe A.
Published in American journal of medical genetics. Part A (01.12.2013)
Published in American journal of medical genetics. Part A (01.12.2013)
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Lower Prepulse Inhibition in Children With the 22q11 Deletion Syndrome
Sobin, Christina, Kiley-Brabeck, Karen, Karayiorgou, Maria
Published in The American journal of psychiatry (01.06.2005)
Published in The American journal of psychiatry (01.06.2005)
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Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion
Woodin, Michael, Wang, Paul P, Aleman, David, McDonald-McGinn, Donna, Zackai, Elaine, Moss, Edward
Published in Genetics in medicine (01.01.2001)
Published in Genetics in medicine (01.01.2001)
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Motor phenotypic alterations in TgDyrk1a transgenic mice implicate DYRK1A in Down syndrome motor dysfunction
Martı́nez de Lagrán, M, Altafaj, X, Gallego, X, Martı́, E, Estivill, X, Sahún, I, Fillat, C, Dierssen, M
Published in Neurobiology of disease (01.02.2004)
Published in Neurobiology of disease (01.02.2004)
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The Molecular Basis of a Case of γ-Glutamylcysteine Synthetase Deficiency
Beutler, Ernest, Gelbart, Terri, Kondo, Takahito, Matsunaga, Alison T.
Published in Blood (15.10.1999)
Published in Blood (15.10.1999)
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