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1. Full Text Prioritization of neurodevelopmental disease genes by discovery of new mutations
by Hoischen, A and Krumm, N and Eichler, E.E
Nature neuroscience, ISSN 1097-6256, 2014, Volume 17, Issue 6, pp. 764 - 772
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Exome - genetics | Genetic Predisposition to Disease - genetics | Genetic Association Studies - trends | Humans | Genetic Association Studies - methods | Mutation - genetics | Nervous System Diseases - genetics | Nervous System Diseases - diagnosis | Autism | Gene mutations | Epilepsy | Genetic aspects | Research | Health aspects | Risk factors | Index Medicus
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2. Full Text Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics
by Ekta Khurana and Yao Fu and Vincenza Colonna and Xinmeng Jasmine Mu and Hyun Min Kang and Tuuli Lappalainen and Andrea Sboner and Lucas Lochovsky and Jieming Chen and Arif Harmanci and Jishnu Das and Alexej Abyzov and Suganthi Balasubramanian and Kathryn Beal and Dimple Chakravarty and Daniel Challis and Yuan Chen and Declan Clarke and Laura Clarke and Fiona Cunningham and Uday S. Evani and Paul Flicek and Robert Fragoza and Erik Garrison and Richard Gibbs and Zeynep H. Gümüş and Javier Herrero and Naoki Kitabayashi and Yong Kong and Kasper Lage and Vaja Liluashvili and Steven M. Lipkin and Daniel G. MacArthur and Gabor Marth and Donna Muzny and Tune H. Pers and Graham R. S. Ritchie and Jeffrey A. Rosenfeld and Cristina Sisu and Xiaomu Wei and Michael Wilson and Yali Xue and Fuli Yu and Emmanouil T. Dermitzakis and Haiyuan Yu and Mark A. Rubin and Chris Tyler-Smith and Mark Gerstein and 1000 Genomes Project Consortium
Science (American Association for the Advancement of Science), ISSN 0036-8075, 10/2013, Volume 342, Issue 6154, pp. 84 - 84
RESEARCH ARTICLE SUMMARY | Genomes | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Genomics | Humans | Selection, Genetic | Molecular Sequence Annotation - methods | Binding Sites - genetics | RNA, Untranslated - genetics | Genetic Variation | Neoplasms - genetics | Kruppel-Like Transcription Factors - metabolism | Polymorphism, Single Nucleotide | Mutation | Genome, Human | Population - genetics | Index Medicus
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3. Full Text Recurrent de novo mutations implicate novel genes underlying simplex autism risk
by O'Roak, B.J and Stessman, H.A and Boyle, E.A and Witherspoon, K.T and Martin, B and Lee, C and Vives, L and Baker, C and Hiatt, J.B and Nickerson, D.A and Bernier, R and Shendure, J and Eichler, E.E
Nature communications, ISSN 2041-1723, 2014, Volume 5, Issue 1, pp. 5595 - 5595
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Autistic Disorder - genetics | Genetic Predisposition to Disease | Humans | PAX5 Transcription Factor - genetics | Risk | DNA-Binding Proteins - genetics | Intelligence - genetics | Sequence Analysis, DNA | Intelligence Tests | Carrier Proteins - genetics | ras GTPase-Activating Proteins - genetics | Base Sequence | Family | Mutation | Ubiquitin-Protein Ligases - genetics | Index Medicus
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4. Full Text Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
by Bernier, Raphael and Golzio, Christelle and Xiong, Bo and Stessman, Holly A and Coe, Bradley P and Penn, Osnat and Witherspoon, Kali and Gerdts, Jennifer and Baker, Carl and Vulto-van Silfhout, Anneke T and Schuurs-Hoeijmakers, Janneke H and Fichera, Marco and Bosco, Paolo and Buono, Serafino and Alberti, Antonino and Failla, Pinella and Peeters, Hilde and Steyaert, Jean and Vissers, Lisenka E.L.M and Francescatto, Ludmila and Mefford, Heather C and Rosenfeld, Jill A and Bakken, Trygve and O’Roak, Brian J and Pawlus, Matthew and Moon, Randall and Shendure, Jay and Amaral, David G and Lein, Ed and Rankin, Julia and Romano, Corrado and de Vries, Bert B.A and Katsanis, Nicholas and Eichler, Evan E
Cell (Cambridge), ISSN 0092-8674, 07/2014, Volume 158, Issue 2, pp. 263 - 276
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Megalencephaly - pathology | Humans | Child, Preschool | Molecular Sequence Data | Child Development Disorders, Pervasive - physiopathology | Male | Macaca mulatta | Brain - growth & development | DNA-Binding Proteins - metabolism | Female | Gastrointestinal Tract - innervation | Child | Child Development Disorders, Pervasive - classification | Amino Acid Sequence | Child Development Disorders, Pervasive - pathology | Zebrafish Proteins - metabolism | Gastrointestinal Tract - physiopathology | Zebrafish | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Transcription Factors - metabolism | Sequence Alignment | Animals | Child Development Disorders, Pervasive - genetics | Adolescent | Brain - pathology | Mutation | Zebrafish Proteins - genetics | Autism | Analysis | Genetic aspects | Medical colleges | Hospitals | Comorbidity | Genomics | Medical genetics | Index Medicus | dysmorphology | zebrafish modeling | enteric neurons | midbrain expansion | macrocephaly | gastrointestinal defect | autism subtypes | forebrain | Autism spectrum disorder
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5. Full Text Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis
by Fiddes, Ian T and Lodewijk, Gerrald A and Mooring, Meghan and Bosworth, Colleen M and Ewing, Adam D and Mantalas, Gary L and Novak, Adam M and van den Bout, Anouk and Bishara, Alex and Rosenkrantz, Jimi L and Lorig-Roach, Ryan and Field, Andrew R and Haeussler, Maximilian and Russo, Lotte and Bhaduri, Aparna and Nowakowski, Tomasz J and Pollen, Alex A and Dougherty, Max L and Nuttle, Xander and Addor, Marie-Claude and Zwolinski, Simon and Katzman, Sol and Kriegstein, Arnold and Eichler, Evan E and Salama, Sofie R and Jacobs, Frank M.J and Haussler, David
Cell (Cambridge), ISSN 0092-8674, 05/2018, Volume 173, Issue 6, pp. 1356 - 1369.e22
segmental duplications | structural variation | neurodevelopment | human evolution | Notch signaling | neural stem cells | cortical organoids | neurodevelopmental disorders | autism | 1q21.1 | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Embryonic Stem Cells - metabolism | Brain - embryology | Signal Transduction | Humans | Receptor, Notch2 - metabolism | Receptor, Notch2 - genetics | Pan troglodytes | Gorilla gorilla | Animals | Sequence Analysis, RNA | Neurogenesis - physiology | Gene Deletion | HEK293 Cells | Cerebral Cortex - physiology | Female | Neocortex - cytology | Neuroglia - metabolism | Cell Differentiation | Neurons - metabolism | Neural Stem Cells - metabolism | Genes, Reporter | Proteins | Autism | Evolutionary biology | Neurons | Analysis | Genes | Stem cells | Human evolution | Index Medicus
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6. Full Text A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
by Renton, Alan E and Majounie, Elisa and Waite, Adrian and Simón-Sánchez, Javier and Rollinson, Sara and Gibbs, J. Raphael and Schymick, Jennifer C and Laaksovirta, Hannu and van Swieten, John C and Myllykangas, Liisa and Kalimo, Hannu and Paetau, Anders and Abramzon, Yevgeniya and Remes, Anne M and Kaganovich, Alice and Scholz, Sonja W and Duckworth, Jamie and Ding, Jinhui and Harmer, Daniel W and Hernandez, Dena G and Johnson, Janel O and Mok, Kin and Ryten, Mina and Trabzuni, Danyah and Guerreiro, Rita J and Orrell, Richard W and Neal, James and Murray, Alex and Pearson, Justin and Jansen, Iris E and Sondervan, David and Seelaar, Harro and Blake, Derek and Young, Kate and Halliwell, Nicola and Callister, Janis Bennion and Toulson, Greg and Richardson, Anna and Gerhard, Alex and Snowden, Julie and Mann, David and Neary, David and Nalls, Michael A and Peuralinna, Terhi and Jansson, Lilja and Isoviita, Veli-Matti and Kaivorinne, Anna-Lotta and Hölttä-Vuori, Maarit and Ikonen, Elina and Sulkava, Raimo and Benatar, Michael and Wuu, Joanne and Chiò, Adriano and Restagno, Gabriella and Borghero, Giuseppe and Sabatelli, Mario and Heckerman, David and Rogaeva, Ekaterina and Zinman, Lorne and Rothstein, Jeffrey D and Sendtner, Michael and Drepper, Carsten and Eichler, Evan E and Alkan, Can and Abdullaev, Ziedulla and Pack, Svetlana D and Dutra, Amalia and Pak, Evgenia and Hardy, John and Singleton, Andrew and Williams, Nigel M and Heutink, Peter and Pickering-Brown, Stuart and Morris, Huw R and Tienari, Pentti J and Traynor, Bryan J and The ITALSGEN Consortium and ITALSGEN Consortium
Neuron (Cambridge, Mass.), ISSN 0896-6273, 10/2011, Volume 72, Issue 2, pp. 257 - 268
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Frontotemporal Dementia - genetics | Haplotypes | Genetic Predisposition to Disease | Amyotrophic Lateral Sclerosis - genetics | Humans | Genotype | Male | Chromosomes, Human, Pair 9 | Pedigree | Alleles | Finland | Female | Polymorphism, Single Nucleotide | Microsatellite Repeats | Medical colleges | Molecular genetics | Neurons | Genes | Oncology, Experimental | Amyotrophic lateral sclerosis | Research | Gene expression | Genetic research | Cytogenetics | Genetic aspects | Alzheimer's disease | Public health | Cancer | Index Medicus
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7. Full Text Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
by Stessman, H.A and Xiong, B and Coe, B.P and Wang, T and Hoekzema, K and Fenckova, M and Kvarnung, M and Gerdts, J and Trinh, S and Cosemans, N and Vives, L and Lin, J and Turner, T.N and Santen, G and Ruivenkamp, C and Kriek, M and Haeringen, A. van and Aten, E and Friend, K and Liebelt, J and Barnett, C and Haan, E and Shaw, M and Gecz, J and Anderlid, B.M and Nordgren, A and Lindstrand, A and Schwartz, C and Kooy, R.F and Vandeweyer, G and Helsmoortel, C and Romano, C and Alberti, A and Vinci, M and Avola, E and Giusto, S and Courchesne, E and Pramparo, T and Pierce, K and Nalabolu, S and Amaral, D.G and Scheffer, I.E and Delatycki, M.B and Lockhart, P.J and Hormozdiari, F and Harich, B and Castells Nobau, A and Xia, K and Peeters, H and Nordenskjold, M and Schenck, A and Bernier, R.A and Eichler, E.E
Nature genetics, ISSN 1061-4036, 2017, Volume 49, Issue 4, pp. 515 - 526
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Autistic Disorder - genetics | Phenotype | Humans | Female | Male | Developmental Disabilities - genetics | Mutation - genetics | Intellectual Disability - genetics | Consortia | Autism | Councils | Intellectual disabilities | Genes | Mutation | Siblings | Index Medicus | Medicin och hälsovetenskap
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