Gabrielle Barnby
Wellcome Trust Centre for Human Genetics
15 Papers
79 Citations
Gabrielle Barnby is an academic researcher from Wellcome Trust Centre for Human Genetics. The author has contributed to research in topics: Autism & Candidate gene. The author has an hindex of 14, co-authored 15 publications. Previous affiliations of Gabrielle Barnby include University of Oxford.
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Papers
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Peter Szatmari,Andrew D. Paterson,Lonnie Zwaigenbaum,Wendy Roberts,Jessica Brian,Xiao-Qing Liu,John B. Vincent,Jennifer Skaug,Ann P. Thompson,Lili Senman,Lars Feuk,Cheng Qian,Susan E. Bryson,Marshall B. Jones,Christian R. Marshall,Stephen W. Scherer,Veronica J. Vieland,Christopher W. Bartlett,La Vonne Mangin,Rhinda Goedken,Alberto M. Segre,Margaret A. Pericak-Vance,Michael L. Cuccaro,John R. Gilbert,Harry H. Wright,Ruth K. Abramson,Catalina Betancur,Thomas Bourgeron,Christopher Gillberg,Marion Leboyer,Joseph D. Buxbaum,Kenneth L. Davis,Eric Hollander,Jeremy M. Silverman,Joachim Hallmayer,Linda Lotspeich,James S. Sutcliffe,Jonathan L. Haines,Susan E. Folstein,Joseph Piven,Thomas H. Wassink,Val C. Sheffield,Daniel H. Geschwind,Maja Bucan,W. Ted Brown,Rita M. Cantor,John N. Constantino,T. Conrad Gilliam,Martha R. Herbert,Clara Lajonchere,David H. Ledbetter,Christa Lese-Martin,Janet Miller,Stan F. Nelson,Carol A. Samango-Sprouse,Sarah J. Spence,Matthew W. State,Rudolph E. Tanzi,Hilary Coon,Geraldine Dawson,Bernie Devlin,Annette Estes,Pamela Flodman,Lambertus Klei,William M. McMahon,Nancy J. Minshew,Jeff Munson,Elena Korvatska,Elena Korvatska,Patricia M. Rodier,Gerard D. Schellenberg,Gerard D. Schellenberg,Moyra Smith,M. Anne Spence,Christopher J. Stodgell,Ping Guo Tepper,Ellen M. Wijsman,Chang En Yu,Chang En Yu,Bernadette Rogé,Carine Mantoulan,Kerstin Wittemeyer,Annemarie Poustka,Bärbel Felder,Sabine M. Klauck,Claudia Schuster,Fritz Poustka,Sven Bölte,Sabine Feineis-Matthews,Evelyn Herbrecht,Gabi Schmötzer,John Tsiantis,Katerina Papanikolaou,Elena Maestrini,Elena Bacchelli,Francesca Blasi,Simona Carone,Claudio Toma,Herman van Engeland,Maretha de Jonge,Chantal Kemner,Frederike Koop,Marjolijn Langemeijer,Channa Hijimans,Wouter G. Staal,Gillian Baird,Patrick Bolton,Michael Rutter,Emma Weisblatt,Jonathan Green,Catherine Aldred,Julie Anne Wilkinson,Andrew Pickles,Ann Le Couteur,Tom Berney,Helen McConachie,Anthony J. Bailey,Kostas Francis,Gemma Honeyman,Aislinn Hutchinson,Jeremy R. Parr,Simon Wallace,Anthony P. Monaco,Gabrielle Barnby,Kazuhiro Kobayashi,Janine A. Lamb,Inês Sousa,Nuala Sykes,Edwin H. Cook,Stephen J. Guter,Bennett L. Leventhal,Jeff Salt,Catherine Lord,Christina Corsello,Vanessa Hus,Daniel E. Weeks,Fred R. Volkmar,Maïté Tauber,Eric Fombonne,Andy Shih +139 more
TL;DR: Linkage and copy number variation analyses implicate chromosome 11p12–p13 and neurexins, respectively, among other candidate loci, highlighting glutamate-related genes as promising candidates for contributing to ASDs.
A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q and 16p
Le, Couteur, A,Thomas Kelly,T Berney,Helen McConachie,Jeremy R. Parr,Sarah Palferman,Nicola Matthews,Martha Turner,Janette Moore,Amaia Hervas,Anne Aubin,Simon Wallace,Janine Michelotti,Catherine Wainhouse,Alina Paul,Emily J. Thompson,Ramyani Gupta,Claire Garner,Marianne Murin,Christine M. Freitag,Nuala Ryder,E Cottington,Andrew Pickles,Michael Rutter,Anthony J. Bailey,Gabrielle Barnby,Janine A. Lamb,Angela J. Marlow,Pat Scudder,Anthony P. Monaco,Gillian Baird,Antony Cox,Zoe Docherty,Pamela Warburton,Elizabeth P. Green,Stephen Abbs,De, Vries, Pj,Patrick Bolton,Jonathan Green,Anne Gilchrist,Jane Whittacker,Bryan Bolton,Ros Packer,Elena Maestrini,Francesca Blasi,Van, Engeland, H,De, Jonge, Mv,Chantal Kemner,Sabine M. Klauck,Kim S. Beyer,Sabine Epp,Annemarie Poustka,Axel Benner,JW Goethe,Fritz Poustka,Dorothea Rühl,Gabriele Schmötzer,S Boolte,Sabine Feineis-Matthews,Eric Fombonne,B Rogee,Jeanne Fremolle-Kruck,Catherine Pienkowski,Maïté Tauber,Lennart Pedersen,KB Nielsen,Gunna Eriksen,Demetrious Haracopos,Rmj Cotterill,John Tsiantis,Katerina Papanikolaou,Catherine Lord,Christina Corsello,Stephen J. Guter,Bennett L. Leventhal,Edwin H. Cook,Susan L. Smalley,Julia Bailey,James J. McGough,Jennifer G. Levitt,David Pauls,Fred R. Volkmar,Daniel E. Weeks,Int, Mol, Genetic, Study, Autism, Cons +83 more
TL;DR: The addition of new families and markers provides further support for previous reports of linkages on chromosomes 7q and 16p and two new regions of linkage have also been identified on chromosomes 2q and 17q.
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Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q
Sarah Palferman,Nicola Matthews,Martha Turner,Janette Moore,Amaia Hervas,Anne Aubin,Simon Wallace,Janine Michelotti,Catherine Wainhouse,Alina Paul,Elaine Thompson,Marianne Murin,Ramyani Gupta,Claire Garner,Andrew Pickles,Michael Rutter,Anthony J. Bailey,Anthony J. Bailey,Janine A. Lamb,Angela J. Marlow,Pat Scudder,Gabrielle Barnby,Anthony P. Monaco,Gillian Baird,Anthony Cox,Zoe Docherty,Pamela Warburton,Elizabeth P. Green,Stephen Abbs,Ann Le Couteur,Helen McConachie,Tom Berney,Thomas Kelly,Petrus J. de Vries,Patrick Bolton,Jonathan Green,Anne Gilchrist,Jane Whittacker,Bryan Bolton,Ros Packer,Elena Maestrini,Herman van Engeland,Maretha de Jonge,Chantal Kemner,Sabine M. Klauck,Kim S. Beyer,Sabine Epp,Annemarie Poustka,Axel Benner,Fritz Poustka,Dorothea Rühl,Gabriele Schmötzer,Sven Bölte,Sabine Feineis-Matthews,Eric Fombonne,Bernadette Rogé,Jeanne Fremolle-Kruck,Catherine Pienkowski,Marie Thérèse Tauber,Lennart Pedersen,Karen Brøndum-Nielsen,Gunna Eriksen,Demetrious Haracopos,Rodney M. J. Cotterill,John Tsiantis,Katerina Papanikolaou,Catherine Lord,Christina Corsello,Stephen J. Guter,Bennett L. Leventhal,Edwin H. Cook,Susan L. Smalley,Julia Bailey,Amy Liu,Martha Dedricks,Lisa Chrzanowski,Jennifer G. Levitt,David L. Pauls,Fred R. Volkmar,Daniel E. Weeks +79 more
TL;DR: The most significant susceptibility region in the first whole genome screen of multiplex families was on chromosome 7q, although this linkage was evident only in UK IMGSAC families.
Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene.
Elena Bacchelli,Francesca Blasi,M Biondolillo,Janine A. Lamb,Enzo Bonora,Gabrielle Barnby,Jeremy R. Parr,Kim S. Beyer,Sabine M. Klauck,Annemarie Poustka,Anthony J. Bailey,Anthony P. Monaco,Elena Maestrini +12 more
TL;DR: The results from several genome scans indicate that chromosome 2q21–q33 is likely to contain an autism susceptibility locus, and Screening these genes for DNA variants and association analysis using intragenic single nucleotide polymorphisms did not provide evidence for a major role in the aetiology of autism.
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Mutation screening and association analysis of six candidate genes for autism on chromosome 7q
Elena Bonora,Janine A. Lamb,Gabrielle Barnby,Nuala Sykes,Thomas Moberly,Kim S. Beyer,Sabine M. Klauck,Firtz Poustka,Elena Bacchelli,Francesca Blasi,Elena Maestrini,Agatino Battaglia,Demetrios Haracopos,Lennart Pedersen,Torben Isager,Gunna Eriksen,Birgitte Viskum,Ester Ulsted Sorensen,Karen Brøndum-Nielsen,Rodney M. J. Cotterill,Herman von Engeland,Maretha de Jonge,Chantal Kemner,Karlijn Steggehuis,Margret Scherpenisse,Michael Rutter,Patrick Bolton,Jeremy R. Parr,Annemarie Poustka,Anthony J. Bailey,Anthony P. Monaco +30 more
TL;DR: Analysis of genetic variants provided evidence for association with autism for one of the new missense changes identified in LAMB1; this effect was stronger in a subgroup of affected male sibling pair families, implying a possible specific sex-related effect for this variant.