Literature DB >> 21496442

The 1000 Genomes Project: deep genomic sequencing waiting for deep psychiatric phenotyping.

Ridha Joober.   

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Year:  2011        PMID: 21496442      PMCID: PMC3080510          DOI: 10.1503/jpn.110026

Source DB:  PubMed          Journal:  J Psychiatry Neurosci        ISSN: 1180-4882            Impact factor:   6.186


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  25 in total

1.  Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia.

Authors:  Volker Endris; Karl Hackmann; Teresa M Neuhann; Ute Grasshoff; Michael Bonin; Ulrich Haug; Gabriele Hahn; Jens C Schallner; Evelin Schröck; Sigrid Tinschert; Gudrun Rappold; Ute Moog
Journal:  Am J Med Genet A       Date:  2010-11       Impact factor: 2.802

Review 2.  A new account of the neurocognitive foundations of impairments in space, time and number processing in children with chromosome 22q11.2 deletion syndrome.

Authors:  Tony J Simon
Journal:  Dev Disabil Res Rev       Date:  2008

3.  Computer-assisted phenotype characterization for genetic research in psychiatry.

Authors:  Heiner Fangerau; Stephanie Ohlraun; Ralf O Granath; Markus M Nöthen; Marcella Rietschel; Thomas G Schulze
Journal:  Hum Hered       Date:  2004       Impact factor: 0.444

4.  Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.

Authors:  Christelle M Durand; Catalina Betancur; Tobias M Boeckers; Juergen Bockmann; Pauline Chaste; Fabien Fauchereau; Gudrun Nygren; Maria Rastam; I Carina Gillberg; Henrik Anckarsäter; Eili Sponheim; Hany Goubran-Botros; Richard Delorme; Nadia Chabane; Marie-Christine Mouren-Simeoni; Philippe de Mas; Eric Bieth; Bernadette Rogé; Delphine Héron; Lydie Burglen; Christopher Gillberg; Marion Leboyer; Thomas Bourgeron
Journal:  Nat Genet       Date:  2006-12-17       Impact factor: 38.330

5.  De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.

Authors:  Julie Gauthier; Nathalie Champagne; Ronald G Lafrenière; Lan Xiong; Dan Spiegelman; Edna Brustein; Mathieu Lapointe; Huashan Peng; Mélanie Côté; Anne Noreau; Fadi F Hamdan; Anjené M Addington; Judith L Rapoport; Lynn E Delisi; Marie-Odile Krebs; Ridha Joober; Ferid Fathalli; Fayçal Mouaffak; Ali P Haghighi; Christian Néri; Marie-Pierre Dubé; Mark E Samuels; Claude Marineau; Eric A Stone; Philip Awadalla; Philip A Barker; Salvatore Carbonetto; Pierre Drapeau; Guy A Rouleau
Journal:  Proc Natl Acad Sci U S A       Date:  2010-04-12       Impact factor: 11.205

6.  Penetrance for copy number variants associated with schizophrenia.

Authors:  Evangelos Vassos; David A Collier; Simon Holden; Christine Patch; Dan Rujescu; David St Clair; Cathryn M Lewis
Journal:  Hum Mol Genet       Date:  2010-06-29       Impact factor: 6.150

7.  The Consortium on the Genetics of Endophenotypes in Schizophrenia: model recruitment, assessment, and endophenotyping methods for a multisite collaboration.

Authors:  Monica E Calkins; Dorcas J Dobie; Kristin S Cadenhead; Ann Olincy; Robert Freedman; Michael F Green; Tiffany A Greenwood; Raquel E Gur; Ruben C Gur; Gregory A Light; Jim Mintz; Keith H Nuechterlein; Allen D Radant; Nicholas J Schork; Larry J Seidman; Larry J Siever; Jeremy M Silverman; William S Stone; Neal R Swerdlow; Debby W Tsuang; Ming T Tsuang; Bruce I Turetsky; David L Braff
Journal:  Schizophr Bull       Date:  2006-10-11       Impact factor: 9.306

8.  Genetic contribution to common epilepsies.

Authors:  Sanjay M Sisodiya; Heather C Mefford
Journal:  Curr Opin Neurol       Date:  2011-04       Impact factor: 5.710

9.  Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study.

Authors:  Dominic J McMullan; Michael Bonin; Jayne Y Hehir-Kwa; Bert B A de Vries; Andreas Dufke; Eleanor Rattenberry; Marloes Steehouwer; Luminita Moruz; Rolph Pfundt; Nicole de Leeuw; Angelika Riess; Ozge Altug-Teber; Herbert Enders; Sylke Singer; Ute Grasshoff; Michael Walter; Judith M Walker; Catherine V Lamb; E Val Davison; Louise Brueton; Olaf Riess; Joris A Veltman
Journal:  Hum Mutat       Date:  2009-07       Impact factor: 4.878

10.  Large recurrent microdeletions associated with schizophrenia.

Authors:  Hreinn Stefansson; Dan Rujescu; Sven Cichon; Olli P H Pietiläinen; Andres Ingason; Stacy Steinberg; Ragnheidur Fossdal; Engilbert Sigurdsson; Thordur Sigmundsson; Jacobine E Buizer-Voskamp; Thomas Hansen; Klaus D Jakobsen; Pierandrea Muglia; Clyde Francks; Paul M Matthews; Arnaldur Gylfason; Bjarni V Halldorsson; Daniel Gudbjartsson; Thorgeir E Thorgeirsson; Asgeir Sigurdsson; Adalbjorg Jonasdottir; Aslaug Jonasdottir; Asgeir Bjornsson; Sigurborg Mattiasdottir; Thorarinn Blondal; Magnus Haraldsson; Brynja B Magnusdottir; Ina Giegling; Hans-Jürgen Möller; Annette Hartmann; Kevin V Shianna; Dongliang Ge; Anna C Need; Caroline Crombie; Gillian Fraser; Nicholas Walker; Jouko Lonnqvist; Jaana Suvisaari; Annamarie Tuulio-Henriksson; Tiina Paunio; Timi Toulopoulou; Elvira Bramon; Marta Di Forti; Robin Murray; Mirella Ruggeri; Evangelos Vassos; Sarah Tosato; Muriel Walshe; Tao Li; Catalina Vasilescu; Thomas W Mühleisen; August G Wang; Henrik Ullum; Srdjan Djurovic; Ingrid Melle; Jes Olesen; Lambertus A Kiemeney; Barbara Franke; Chiara Sabatti; Nelson B Freimer; Jeffrey R Gulcher; Unnur Thorsteinsdottir; Augustine Kong; Ole A Andreassen; Roel A Ophoff; Alexander Georgi; Marcella Rietschel; Thomas Werge; Hannes Petursson; David B Goldstein; Markus M Nöthen; Leena Peltonen; David A Collier; David St Clair; Kari Stefansson
Journal:  Nature       Date:  2008-09-11       Impact factor: 49.962

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  1 in total

1.  Early-onset dementias: diagnostic and etiological considerations.

Authors:  Mario Masellis; Kayla Sherborn; Pedro Neto; Dessa A Sadovnick; Ging-Yuek R Hsiung; Sandra E Black; Sadhana Prasad; Meghan Williams; Serge Gauthier
Journal:  Alzheimers Res Ther       Date:  2013-07-31       Impact factor: 6.982

  1 in total

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