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Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders

autor

Daniela Tropea

Richard Anney

Aiden Corvin

Gary J. Donohoe

Louise Gallagher

Michael Gill

Derek W. Morris

Sean Ennis

Elizabeth A Heron

publicat în: Molecular Psychiatry

Data de publicare: 2013-10-15

Limbă: limba engleză

Subiectul principal: Spectrul autist, schizofrenie, autism

Citează articole 88

Dată

Title

Autori

2012-11-01

Family history of schizophrenia and bipolar disorder as risk factors for autism

Christina Dalman, Cecilia Magnusson, Paul Lichtenstein, Christina M. Hultman, Niklas Långström, Patrick F. Sullivan, Abraham Reichenberg, Marcus Boman, Eyal Fruchter, Mark Weiser
2012-03-16

CNVs: harbingers of a rare variant revolution in psychiatric genetics

Jonathan Sebat
2012-04-12

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism

Elaine T Lim, Maria H Chahrour, Timothy W Yu, Stacey Gabriel, Christopher A. Walsh
2012-04-04

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Evan E. Eichler, Jay Shendure, Elhanan Borenstein, Roie Levy, Deborah A Nickerson, Benjamin Vernot, Brian J O'Roak, Emily H Turner, Bradley P. Coe, Carl Edward Baker, Maika Malig, Choli Lee, Niklas Krumm, Ian B Stanaway, Joshua M. Akey, Santhosh Girirajan, Emre Karakoc, Mark J Rieder
2012-04-04

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Eric Boerwinkle, Stacey Gabriel, Donna Muzny, Catalina Betancur, Evan Geller, Otto Valladares, Kaitlin E Samocha, James S. Sutcliffe, Joseph Buxbaum, Edwin H Cook, Mark Joseph Daly, Benjamin F. Voight, Benjamin M. Neale, Richard A Gibbs, Lora Lewis, Gerard D Schellenberg, Elaine T Lim, Elizabeth J Rossin, Shawn Levy, Jared Maguire, Eric Banks, Tim J Fennell, Mark DePristo, Jason Flannick, Andrew Kirby, Menachem Fromer, Khalid Shakir, Christine Stevens, Bernie Devlin, Aniko Sabo, Uma Nagaswamy, Irene Newsham, Shamil R Sunyaev, Ryan Poplin
2012-04-04

De novo mutations revealed by whole-exome sequencing are strongly associated with autism
2012-10-03

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia

Johannes Roos, Shawn Levy, Iuliana Ionita-Laza, Joseph A Gogos
2012-08-09

Genome-wide association study implicates HLA-C*01:02 as a risk factor at the major histocompatibility complex locus in schizophrenia

Robert Plomin
2012-02-17

A systematic survey of loss-of-function variants in human protein-coding genes

Mark Bender Gerstein, Klaudia Walter, Toby Hunt
2012-01

Regulation of NMDA receptors by the tyrosine kinase Fyn
2012-04-19

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries

Michael E. Talkowski, Colby Chiang, Douglas M. Ruderfer, Stephan Ripke, Benjamin M. Neale, Mark Joseph Daly, Jill A Rosenfeld, James F. Gusella, Carrie Hanscom, Amelia M Lindgren, Cynthia Morton, Lisa G Shaffer, Adrian Heilbut, Andrew Kirby, Mark L Borowsky, Ian Blumenthal, Shahrin Pereira, Vamsee K Pillalamarri, Diane Lucente, Judith H Miles, Andrea Gropman
2012-04-01

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin

Simon Edvardson, Chaim Jalas
2011-03

Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications

Hakon Hakonarson, Itsik Pe'er, Nancy G. Buccola, Sarah E Bergen, Donald W. Black, Peter Holmans, Kenneth Kendler, Frank Dudbridge, Ann Olincy, C. Robert Cloninger, Kai Wang, Jeremy Silverman, Douglas F Levinson, Jubao Duan, Alan R. Sanders, Bryan Mowry, Ayman Fanous, Pablo V Gejman
2011-08-14

A copy number variation morbidity map of developmental delay
2011-01-22

The role of neurexins in schizophrenia and autistic spectrum disorder

Amy C. Reichelt
2011-12-01

High frequencies of de novo CNVs in bipolar disorder and schizophrenia

Michael Gill, Francis J. McMahon, Marcella Rietschel, Vladimir Vacic, Jonathan Sebat, Aiden Corvin, Sven Cichon, Markus M Nöthen, Jacob J Michaelson, Katherine E Burdick, Thomas G. Schulze, James B Potash, Deborah M Levy, John R Kelsoe, Elliot S Gershon, Dheeraj Malhotra, Shane McCarthy, Olga Krastoshevsky, Verena Krause, Sydney Gary
2011-11-15

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia

George Kirov, Michael C O'Donovan, Andrew Pocklington, Peter Holmans, Dobril Ivanov, Douglas M. Ruderfer, Jennifer L. Moran, Draga Toncheva, Detelina Grozeva, Marija Fjodorova, Elliott Rees, Àlex Bayés, Jyoti Choudhary, Seth G. Grant, Guillén Fernández
2011-06-01

Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses

Michael Wigler, Michael Ronemus, Ivan Iossifov
2011-09-20

Functional gene group analysis identifies synaptic gene groups as risk factor for schizophrenia

Michael C O'Donovan, Peter M Visscher, Ruud F Toonen, Peter Holmans, Matthijs Verhage, Danielle Posthuma, Patrick F Sullivan
2011-05-25

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

Irina Voineagu, Xinchen Wang, Jonathan Mill, Daniel Geschwind, Benjamin J. Blencowe, Steve Horvath, Rita M. Cantor
2011-02-24

A population genetic approach to mapping neurological disorder genes using deep resequencing

Ferran Casals, Guy A. Rouleau, Dan Spiegelman, Julie Gauthier, Carlos D. Bustamante, Ronald G. Lafrenière, Amélie Piton, Philip Awadalla, Rachel E Myers, Adam R Boyko, Martine Zilversmit, Jon Keebler
2011-05-15

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Brian J O'Roak, Pelagia Deriziotis, Simon Fisher, Jay Shendure, Deborah A Nickerson, Evan E. Eichler, Carl Edward Baker, Choli Lee, Santhosh Girirajan, Emre Karakoc, Mark J Rieder, Jerrod J Schwartz
2011-08-07

Exome sequencing supports a de novo mutational paradigm for schizophrenia

Johannes Roos, Phillip Dexheimer, Shawn Levy, Joseph A Gogos
2011-08-11

Sequencing of DISC1 pathway genes reveals increased burden of rare missense variants in schizophrenia patients from a northern Swedish population

Peter De Rijk, Joke Reumers, Maarten J Van Den Bossche, Dirk Goossens, Kristel Van Steen, Rolf Adolfsson, Jurgen Del Favero, Lars-Göran Nilsson
2011-05

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark Joseph Daly, David Altshuler, Stacey Gabriel, Manuel Antonio Rivas
2011-03-07

Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism

Abby Adamczyk, Victor Anggono, Richard L. Huganir
2011-11-11

Knockdown of the psychosis susceptibility gene ZNF804A alters expression of genes involved in cell adhesion

Matthew J Hill, Aaron R Jeffries, Richard Dobson, Jack Price, Nicholas Bray
2011-05-01

Bias due to selection of rare variants using frequency in controls.
2011-07-10

Increased exonic de novo mutation rate in individuals with schizophrenia

Simon L Girard, Marie-Odile Krebs, Guy A. Rouleau, Anne Noreau, Patrick A Dion, Sirui Zhou, Alexandre Dionne-Laporte, Pascale Thibodeau
2011-06-01

Protein interactome reveals converging molecular pathways among autism disorders

Chad Shaw, Yasunari Sakai, Huda Zoghbi
2011-05-01

Defining rare variants by their frequencies in controls may increase type I error
2010-02-10

Autism spectrum disorder diagnoses in Stockholm preschoolers.

Christopher Gillberg

Articol - wd:Q42623377

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