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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 5/2012, Volume 109, Issue 21, pp. 7974 - 7981
Journal Article
by Pinto, Dalila and Delaby, Elsa and Merico, Daniele and Barbosa, Mafalda and Merikangas, Alison and Klei, Lambertus and Thiruvahindrapuram, Bhooma and Xu, Xiao and Ziman, Robert and Wang, Zhuozhi and Vorstman, Jacob A.S and Thompson, Ann and Regan, Regina and Pilorge, Marion and Pellecchia, Giovanna and Pagnamenta, Alistair T and Oliveira, Guiomar and Oliveira, Bárbara and Marshall, Christian R and Magalhaes, Tiago R and Lowe, Jennifer K and Howe, Jennifer L and Griswold, Anthony J and Gilbert, John and Duketis, Eftichia and Dombroski, Beth A and De Jonge, Maretha V and Cuccaro, Michael and Crawford, Emily L and Correia, Catarina T and Conroy, Judith and Conceição, Inês C and Chiocchetti, Andreas G and Casey, Graham and Casey, Jillian P and Cai, Guiqing and Cabrol, Christelle and Bolshakova, Nadia and Bacchelli, Elena and Anney, Richard and Gallinger, Steven and Cotterchio, Michelle and Zwaigenbaum, Lonnie and Wittemeyer, Kerstin and Wing, Kirsty and Wallace, Simon and van Engeland, Herman and Tryfon, Ana and Thomson, Susanne and Soorya, Latha and Rogé, Bernadette and Roberts, Wendy and Poustka, Fritz and Mouga, Susana and Minshew, Nancy and McInnes, L. Alison and McGrew, Susan G and Lord, Catherine and Leboyer, Marion and Le Couteur, Ann S and Kolevzon, Alexander and Jiménez González, Patricia and Jacob, Suma and Holt, Richard and Guter, Stephen and Green, Jonathan and Green, Andrew and Gillberg, Christopher and Fernandez, Bridget A and Duque, Frederico and Delorme, Richard and Dawson, Geraldine and Chaste, Pauline and Café, Cátia and Brennan, Sean and Bourgeron, Thomas and Bolton, Patrick F and Bölte, Sven and Bernier, Raphael and Baird, Gillian and Bailey, Anthony J and Anagnostou, Evdokia and Almeida, Joana and Wijsman, Ellen M and Vieland, Veronica J and Vicente, Astrid M and Schellenberg, Gerard D and Pericak-Vance, Margaret and Paterson, Andrew D and Parr, Jeremy R and Nurnberger, John I and Monaco, Anthony P and Maestrini, Elena and Klauck, Sabine M and Hakonarson, Hakon and Haines, Jonathan L and Geschwind, Daniel H and Freitag, Christine M and Folstein, Susan E and Ennis, Sean and ... and Gillberg Neuropsychiatry Centre and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Gillbergcentrum and Sahlgrenska Academy
The American Journal of Human Genetics, ISSN 0002-9297, 05/2014, Volume 94, Issue 5, pp. 677 - 694
Journal Article
Journal Article
Journal Article
Molecular Psychiatry, ISSN 1359-4184, 07/2016, Volume 21, Issue 7, pp. 936 - 945
Autism spectrum disorder (ASD) is a common neurodevelopmental condition characterized by marked genetic heterogeneity. Recent studies of rare structural and... 
NEURONAL MIGRATION | PSYCHIATRY | BIOCHEMISTRY & MOLECULAR BIOLOGY | CORTICAL INTERNEURON MIGRATION | PERIRHINAL CORTEX | FRAGILE-X | SPECTRUM DISORDERS | HYPEREKPLEXIA MUTATIONS | NEUROSCIENCES | PREFRONTAL CORTEX | GABA | RECEPTOR ACTIVATION | RECOGNITION MEMORY | Glycine - genetics | Glycine - metabolism | Synaptic Transmission - physiology | Autistic Disorder - metabolism | Humans | Mice, Inbred C57BL | Child, Preschool | Neuronal Plasticity - drug effects | Male | Zebrafish | Animals | Long-Term Potentiation - drug effects | Signal Transduction - drug effects | Autism Spectrum Disorder - metabolism | Adolescent | Adult | Mice | Neurogenesis - drug effects | Neurons - metabolism | Receptors, Glycine - metabolism | Child | Receptors, Glycine - genetics | Autism | Physiology, Pathological | Genetic aspects | Glycine receptors | Analysis | Life Sciences | Human health and pathology | Genetics | Neurons and Cognition | Psychiatrics and mental health | rare variants | Morris water maze | de novo | prefrontal cortex | functional analysis | X chromosome | α2 subunit | repetitive behaviors | axon branching | whole-cell recording | sequencing | rescue analyses | GLRA2 | glycine receptor | deletion | mutation screening | social interaction | immunohistochemistry | knock-out mice | rotarod | long term potentiation | site-directed mutagenesis | biotinylation | glycinergic signaling | novel object recognition | loss of function | Autism spectrum disorder | excitatory-inhibitory imbalance | mutation | microarray | language delay | learning and memory | electrophysiology | interneuron | locomotor activity | synaptic plasticity | zebrafish | intellectual disability | Psykiatri | Psychiatry
Journal Article
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 04/2016, Volume 171, Issue 3, pp. 377 - 382
Journal Article
Journal Article
Journal Article
by Dalila Pinto and Elsa Delaby and Daniele Merico and Mafalda Barbosa and Alison Merikangas and Lambertus Klei and Bhooma Thiruvahindrapuram and Xiao Xu and Robert Ziman and Zhuozhi Wang and Sean Ennis and Hilary Coon and Agatino Battaglia and Peter Szatmari and James S Sutcliffe and Joachim Hallmayer and Michael Gill and Edwin H Cook and Joseph D Buxbaum and Bernie Devlin and Jacob AS Vorstman and Louise Gallagher and Catalina Betancur and Stephen W Scherer and Ann Thompson and Regina Regan and Marion Pilorge and Giovanna Pellecchia and Alistair T Pagnamenta and Bárbara Oliveira and Christian R Marshall and Tiago R Magalhaes and Jennifer K Lowe and Jennifer L Howe and Anthony J Griswold and John Gilbert and Eftichia Duketis and Beth A Dombroski and Maretha V De Jonge and Michael Cuccaro and Emily L Crawford and Catarina T Correia and Judith Conroy and Inês C Conceição and Andreas G Chiocchetti and Jillian P Casey and Guiqing Cai and Christelle Cabrol and Nadia Bolshakova and Elena Bacchelli and Richard Anney and Steven Gallinger and Michelle Cotterchio and Graham Casey and Lonnie Zwaigenbaum and Kerstin Wittemeyer and Kirsty Wing and Simon Wallace and Herman van Engeland and Ana Tryfon and Susanne Thomson and Latha Soorya and Bernadette Rogé and Wendy Roberts and Fritz Poustka and Susana Mouga and Nancy Minshew and L Alison McInnes and Susan G McGrew and Catherine Lord and Marion Leboyer and Ann S Le Couteur and Alexander Kolevzon and Patricia Jiménez González and Suma Jacob and Richard Holt and Stephen Guter and Jonathan Green and Andrew Green and Christopher Gillberg and Bridget A Fernandez and Frederico Duque and Richard Delorme and Geraldine Dawson and Pauline Chaste and Cátia Café and Sean Brennan and Thomas Bourgeron and Patrick F Bolton and Sven Bölte and Raphael Bernier and Gillian Baird and Anthony J Bailey and Evdokia Anagnostou and Joana Almeida and Ellen M Wijsman and Veronica J Vieland and Astrid M Vicente and Gerard D Schellenberg and Margaret Pericak-Vance and ...
American Journal of Human Genetics, ISSN 0002-9297, 05/2014, Volume 94, Issue 5, p. 677
  Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed... 
Proteins | Autism | Chromatin | Genes | Learning disabilities | Neurological disorders
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 05/2012, Volume 109, Issue 21, p. 7974
We recently reported a deletion of exon 2 of the trimethyllysine hydroxylase epsilon (TMLHE) gene in a proband with autism. TMLHE maps to the X chromosome and... 
Autism | Enzymes | Biosynthesis | Chromosomes | Risk factors | Siblings
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2009, Volume 149A, Issue 12, pp. 2813 - 2819
Journal Article
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