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1. Full Text Support for the involvement of large copy number variants in the pathogenesis of schizophrenia
by Kirov, George and Grozeva, Detelina and Norton, Nadine and Ivanov, Dobril and Mantripragada, Kiran K and Holmans, Peter and Craddock, Nick and Owen, Michael J and O'Donovan, Michael C and Wellcome Trust Case Control Consor and Int Schizophrenia Consortium and International Schizophrenia Consortium and Wellcome Trust Case Control Consortium and the Wellcome Trust Case Control Consortium
Human molecular genetics, ISSN 0964-6906, 4/2009, Volume 18, Issue 8, pp. 1497 - 1503
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Psychology. Psychoanalysis. Psychiatry | Psychoses | Adult and adolescent clinical studies | Psychopathology. Psychiatry | Schizophrenia | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Schizophrenia - genetics | Gene Deletion | Humans | Female | Male | United Kingdom | Gene Dosage | Polymorphism, Single Nucleotide | Index Medicus | Association Studies
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2. Full Text Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
by Carss, Keren J and Arno, Gavin and Erwood, Marie and Stephens, Jonathan and Sanchis-Juan, Alba and Hull, Sarah and Megy, Karyn and Grozeva, Detelina and Dewhurst, Eleanor and Malka, Samantha and Plagnol, Vincent and Penkett, Christopher and Stirrups, Kathleen and Rizzo, Roberta and Wright, Genevieve and Josifova, Dragana and Bitner-Glindzicz, Maria and Scott, Richard H and Clement, Emma and Allen, Louise and Armstrong, Ruth and Brady, Angela F and Carmichael, Jenny and Chitre, Manali and Henderson, Robert H.H and Hurst, Jane and MacLaren, Robert E and Murphy, Elaine and Paterson, Joan and Rosser, Elisabeth and Thompson, Dorothy A and Wakeling, Emma and Ouwehand, Willem H and Michaelides, Michel and Moore, Anthony T and Aitman, Timothy and Alachkar, Hana and Ali, Sonia and Allen, Louise and Allsup, David and Ambegaonkar, Gautum and Anderson, Julie and Antrobus, Richard and Armstrong, Ruth and Arno, Gavin and Arumugakani, Gururaj and Ashford, Sofie and Astle, William and Attwood, Antony and Austin, Steve and Bacchelli, Chiara and Bakchoul, Tamam and Bariana, Tadbir K and Baxendale, Helen and Bennett, David and Bethune, Claire and Bibi, Shahnaz and Bitner-Glindzicz, Maria and Bleda, Marta and Boggard, Harm and Bolton-Maggs, Paula and Booth, Claire and Bradley, John R and Brady, Angie and Brown, Matthew and Browning, Michael and Bryson, Christine and Burns, Siobhan and Calleja, Paul and Canham, Natalie and Carmichael, Jenny and Carss, Keren and Caulfield, Mark and Chalmers, Elizabeth and Chandra, Anita and Chinnery, Patrick and Chitre, Manali and Church, Colin and Clement, Emma and Clements-Brod, Naomi and Clowes, Virginia and Coghlan, Gerry and Collins, Peter and Cooper, Nichola and Creaser-Myers, Amanda and DaCosta, Rosa and Daugherty, Louise and Davies, Sophie and Davis, John and De Vries, Minka and Deegan, Patrick and Deevi, Sri V.V and Deshpande, Charu and Devlin, Lisa and Dewhurst, Eleanor and Doffinger, Rainer and Dormand, Natalie and Drewe, Elizabeth and Edgar, David and Egner, William and ... and NIHR-BioResource Rare Diseases Consortium and NIHR-BioResource Rare Dis
American journal of human genetics, ISSN 0002-9297, 01/2017, Volume 100, Issue 1, pp. 75 - 90
rare sequence variant | retinal dystrophy | whole-genome sequence | copy-number variants | EXOME | DIAGNOSIS | LEBER CONGENITAL AMAUROSIS | ACTIVATION | PROTEIN | GENE | DYSTROPHY | MUTATION | STARGARDT DISEASE | REVEALS | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Rare Diseases - genetics | Retinal Diseases - genetics | Introns - genetics | Genes, Recessive - genetics | Humans | Male | Genome, Human - genetics | Choroideremia - genetics | Exome - genetics | Ethnic Groups - genetics | DNA Mutational Analysis | Base Sequence | Adaptor Proteins, Signal Transducing - genetics | Alleles | Female | Genetic Variation - genetics | Mutation | Genetic disorders | Genetic variation | Physiological aspects | Genetic aspects | Nucleotide sequencing | Health aspects | Retinal diseases | Methods | DNA sequencing | Pathology | Retina | Visual impairment | Pathogenesis | Genomics | Index Medicus
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3. Full Text Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability
by Grozeva, Detelina and Carss, Keren and Spasic‐Boskovic, Olivera and Tejada, Maria‐Isabel and Gecz, Jozef and Shaw, Marie and Corbett, Mark and Haan, Eric and Thompson, Elizabeth and Friend, Kathryn and Hussain, Zaamin and Hackett, Anna and Field, Michael and Renieri, Alessandra and Stevenson, Roger and Schwartz, Charles and Floyd, James A.B and Bentham, Jamie and Cosgrove, Catherine and Keavney, Bernard and Bhattacharya, Shoumo and Hurles, Matthew and Raymond, F. Lucy and Italian X-Linked Mental Retardatio and GOLD Consortium and UK10K Consortium and Italian X-linked Mental Retardation Project
Human mutation, ISSN 1059-7794, 12/2015, Volume 36, Issue 12, pp. 1197 - 1204
developmental delay | Mendelian disease | intellectual disability | next‐generation sequencing | Intellectual disability | Next-generation sequencing | Developmental delay | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Inheritance Patterns | Computational Biology - methods | Genetic Association Studies | Humans | Alleles | Female | Male | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Mutation | Cohort Studies | Intellectual Disability - genetics | Parenting | Genetic disorders | Analysis | Cytogenetics | Family | Single nucleotide polymorphisms | Mental illness | Intellectual disabilities | Index Medicus | Life Sciences | Genetics | Human genetics | s
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4. Full Text Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling
by Baker, Kate and Gordon, Sarah L and Grozeva, Detelina and Van Kogelenberg, Margriet and Roberts, Nicola Y and Pike, Michael and Blair, Edward and Hurles, Matthew E and Chong, W. Kling and Baldeweg, Torsten and Kurian, Manju A and Boyd, Stewart G and Cousin, Michael A and Raymond, F. Lucy and UK10K Consortium
The Journal of clinical investigation, ISSN 0021-9738, 04/2015, Volume 125, Issue 4, pp. 1670 - 1678
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Calcium - metabolism | Humans | Molecular Sequence Data | Male | Motor Skills Disorders - genetics | Mutation, Missense | Exocytosis - physiology | Recombinant Fusion Proteins - metabolism | Intellectual Disability - genetics | Exocytosis - genetics | Genes, Dominant | Evoked Potentials, Visual | Endocytosis - genetics | Child | Synaptic Vesicles - physiology | Amino Acid Sequence | Membrane Fusion | Cells, Cultured | Rats | Presynaptic Terminals - physiology | Hippocampus - cytology | Synaptotagmin I - genetics | Endocytosis - physiology | Sequence Homology, Amino Acid | Point Mutation | Sequence Alignment | Animals | Mice | Kinetics | Movement Disorders - genetics | Synaptotagmin I - physiology | Cellular proteins | Genetic aspects | Genetic variation | Health aspects | Cellular control mechanisms | Studies | Medical research | Pediatrics | Mutation | Behavior | Age | Index Medicus | Abridged Index Medicus
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5. Full Text Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder
by McGhee, Kevin A and Owen, Michael J and Corvin, Aiden P and Nikolov, Ivan and Jones, Ian R and Gurling, Hugh M and Nimgaonkar, Vishwajit L and Fan, Jinbo and Collier, David A and Holmans, Peter A and O'Donovan, Michael C and Farmer, Anne and Smoller, Jordan W and Caesar, Sian and Kirov, George and Williamson, Richard and Kandaswamy, Radhika and Purcell, Shaun M and Sklar, Pamela and Moskvina, Valentina and Thase, Michael E and Anjorin, Adebayo and Blackwood, Douglas H and Perlis, Roy H and Curtis, David and Daly, Mark J and Gordon-Smith, Katherine and Meng, Yan A and Grozeva, Detelina and Hamshere, Marian L and Bass, Nicholas J and Franklin, Jennifer and McQuillin, Andrew and Scolnick, Edward M and Jones, Lisa and Stone, Jennifer and Pereira, Ana C P and Craddock, Nick and Gill, Michael and Green, Elaine K and Blumenstiel, Brendan and Defelice, Matthew and Gabriel, Stacey B and Lawrence, Jacob and Chambert, Kimberly and MacIntyre, Donald J and Ruderfer, Douglas M and MacLean, Alan W and Sachs, Gary S and Fraser, Christine and McGuffin, Peter and St Clair, David and Nicol Ferrier, I and Elkin, Amanda and Muir, Walter J and Breen, Gerome and Young, Allan H and Ferreira, Manuel A R and Ardlie, Kristin G and Van Beck, Margaret and Robinson, Michelle and Morris, Derek W and Wellcome Trust Case Control Consor and Wellcome Trust Case Control Consortium
Nature genetics, ISSN 1061-4036, 09/2008, Volume 40, Issue 9, pp. 1056 - 1058
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Psychology. Psychoanalysis. Psychiatry | Adult and adolescent clinical studies | Cell membranes. Ionic channels. Membrane pores | Psychopathology. Psychiatry | Mood disorders | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Cell structures and functions | Bipolar disorders | Genetic Predisposition to Disease | Genome-Wide Association Study | Calcium Channels, L-Type - genetics | Ankyrins - genetics | Chromosomes, Human, Pair 15 | Humans | Logistic Models | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 12 | Bipolar Disorder - genetics | Chromosomes, Human, Pair 10 | Calcium channels | Genetic variation | Bipolar disorder | Genetic aspects | Research | Health aspects | Risk factors | Studies | Blood transfusions | Medical research | Inflation | Trinity | Colleges & universities | Index Medicus
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6. Full Text Microduplications of 16p11.2 are associated with schizophrenia
by Walsh, Tom and Gary, Sydney and Sutcliffe, James S and Addington, Anjene M and Chitkara, Nisha and Levy, Deborah L and Cichon, Sven and DeRosse, Pamela and Malhotra, Anil K and Leibenluft, Ellen and Dickel, Diane E and Lee, Yoon-ha and Zackai, Elaine H and Stroup, T Scott and McCarthy, Shane E and Crow, Timothy J and McMahon, Francis J and Lakshmi, B and Christian, Susan L and Malhotra, Dheeraj and McClellan, Jon and Goodell, Meredith and Spinner, Nancy B and Pearl, Justin and Wolff, Jessica and Bhandari, Abhishek and Iakoucheva, Lilia M and Deutsch, Curtis K and Pavon, Kevin and Nöthen, Markus M and Gallagher, Louise and Roccanova, Patricia and Lieberman, Jeffrey A and DeLisi, Lynn E and Puura, Kaija and Skuse, David and Rapoport, Judith and Willour, Virginia L and Kirov, George and Vacic, Vladimir and Makarov, Vladimir and Haldeman-Englert, Chad and Sullivan, Patrick F and Schulze, Thomas G and Craddock, Nick and Kendall, Jude and Perkins, Diana O and Kusenda, Mary and Lehtimäki, Terho and Kassem, Layla and Yoon, Seungtai and Krastoshevsky, Olga and Sebat, Jonathan and Owen, Michael J and Ganesh, Jaya and Gill, Michael and King, Mary-Claire and Steele, Jo and Krause, Verena and Susser, Ezra and Mendell, Nancy R and Leotta, Anthony and Shaikh, Tamim H and Kaplan, Paige and Potash, James B and Krantz, Ian D and Grozeva, Detelina and Lajonchere, Clara M and O'Donovan, Michael C and Kustanovich, Vlad and Rietschel, Marcella and Kumar, Ravinesh A and Wellcome Trust Case Control Consor and Wellcome Trust Case Control Consortium
Nature genetics, ISSN 1061-4036, 11/2009, Volume 41, Issue 11, pp. 1223 - 1227
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Psychology. Psychoanalysis. Psychiatry | Psychoses | Adult and adolescent clinical studies | Psychopathology. Psychiatry | Schizophrenia | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Gene Duplication | Genetic Predisposition to Disease | Schizophrenia - genetics | Humans | Risk Factors | Chromosomes, Human, Pair 16 | Usage | DNA microarrays | Gene mutations | Genetic aspects | Research | Health aspects | Risk factors | Mental health care | Autism | Mental disorders | Data collection | Grants | Children & youth | Independent sample | Index Medicus
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7. Full Text Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
by Meyer, E and Carss, K.J and Rankin, J and Nichols, J.M and Grozeva, D and Joseph, A.P and Mencacci, N.E and Papaneou, A and Ng, J and Barral, S and Ngoh, A and Ben-Pazi, H and Willemsen, M.A and Arkadir, D and Barnicoat, A and Bergman, H and Bhate, S and Boys, A and Darin, N and Foulds, N and Gutowski, N and Hills, A and Houlden, H and Hurst, J.A and Israel, Z and Kaminska, M and Limousin, P and Lumsden, D and McKee, S and Misra, S and Mohammed, S.S and Nakou, V and Nicolai, J and Nilsson, M and Pall, H and Peall, K.J and Peters, G.B and Prabhakar, P and Reuter, M.S and Rump, P and Segel, R and Sinnema, M and Smith, M and Turnpenny, P and White, S.M and Wieczorek, D and Wiethoff, S and Wilson, B.T and Winter, G and Wragg, C and Pope, S and Heales, S.J and Morrogh, D and Pittman, A and Carr, L.J and Perez-Duenas, B and Lin, J.P and Reis, A and Gahl, W.A and Toro, C and Bhatia, K.P and Wood, N.W and Kamsteeg, E.J and Chong, W.K and Gissen, P and Topf, M and Dale, R.C and Chubb, J.R and Raymond, F.L and Kurian, M.A and NIHR BioResource Rare and Deciphering Dev Disorders Study and UK10K Consortium and Deciphering Developmental Disorders Study and NIHR BioResource Rare Diseases Consortium and Sahlgrenska akademin and Institute of Clinical Sciences, Department of Pediatrics and Göteborgs universitet and Gothenburg University and Institutionen för kliniska vetenskaper, Avdelningen för pediatrik and Sahlgrenska Academy
Nature genetics, ISSN 1061-4036, 2017, Volume 49, Issue 2, pp. 223 - 237
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Histone-Lysine N-Methyltransferase - genetics | Humans | Male | DNA-Binding Proteins - genetics | Mutation - genetics | Dystonia - genetics | Lysine - genetics | Histone Methyltransferases | Histones - genetics | Adolescent | Female | Methylation | Nuclear Proteins - genetics | Gene mutations | Methyltransferases | Development and progression | Genetic aspects | Dystonia | Health aspects | Risk factors | Studies | Consortia | Medical imaging | Statistical analysis | Brain research | Neural networks | Fibroblasts | Genomes | Mutation | Patients | Age | Index Medicus | Klinisk medicin | Clinical Medicine
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