Works matching AU Thiselton, Dawn L.

Results: 11

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.

Published in:

Nature Genetics, 2000, v. 26, n. 2, p. 211, doi. 10.1038/79944

By:

Alexander, Christiane;
Votruba, Marcela;
Pesch, Ulrike E.A.;
Thiselton, Dawn L.;
Mayer, Simone;
Moore, Anthony;
Rodriguez, Miguel;
Kellner, Ulrich;
Leo-Kottler, Beate;
Auburger, Georg;
Bhattacharya, Shomi S.;
Wissinger, Bernd

Publication type:

Article

Meta-analysis of Positive and Negative Symptoms Reveals Schizophrenia Modifier Genes.

Published in:

Schizophrenia Bulletin, 2016, v. 42, n. 2, p. 279, doi. 10.1093/schbul/sbv119

By:

Edwards, Alexis C.;
Bigdeli, Tim B.;
Docherty, Anna R.;
Bacanu, Silviu;
Donghyung Lee;
de Candia, Teresa R.;
Moscati, Arden;
Thiselton, Dawn L.;
Maher, Brion S.;
Wormley, Brandon K.

Publication type:

Article

Sequence variation within the RPGR gene: Evidence for a founder complex allele.

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 273, doi. 10.1002/1098-1004(200009)16:3<273::AID-HUMU19>3.0.CO;2-W

By:

Zito, Ilaria;
Morris, Alex;
Tyson, Phil;
Winship, Ingrid;
Sharp, Dianne;
Gilbert, Dale;
Thiselton, Dawn L.;
Bhattacharya, Shomi S.;
Hardcastle, Alison J.

Publication type:

Article

Novel frameshift mutations in the RP2 gene and polymorphic variants.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 580, doi. 10.1002/1098-1004(200006)15:6<580::AID-HUMU15>3.0.CO;2-3

By:

Thiselton, Dawn L.;
Zito, Ilaria;
Plant, Catherine;
Jay, Marcelle;
Hodgson, Shirley V.;
Bird, Alan C.;
Bhattacharya, Shomi S.;
Hardcastle, Alison J.

Publication type:

Article

A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene.

Published in:

Human Genetics, 2002, v. 110, n. 1, p. 52, doi. 10.1007/s00439-001-0645-7

By:

Aung, Tin;
Ocaka, Louise;
Ebenezer, Neil D.;
Morris, Alex G.;
Krawczak, Michael;
Thiselton, Dawn L.;
Alexander, Christiane;
Votruba, Marcela;
Brice, Glen;
Child, Anne H.;
Francis, Peter J.;
Hitchings, Roger A.;
Lehmann, Ordan J.;
Bhattacharya, Shomi S.

Publication type:

Article

Association Study of 167 Candidate Genes for Schizophrenia Selected by a Multi-Domain Evidence-Based Prioritization Algorithm and Neurodevelopmental Hypothesis.

Published in:

PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0067776

By:

Zhao, Zhongming;
Webb, Bradley T.;
Jia, Peilin;
Bigdeli, T. Bernard;
Maher, Brion S.;
van den Oord, Edwin;
Bergen, Sarah E.;
Amdur, Richard L.;
O'Neill, Francis A.;
Walsh, Dermot;
Thiselton, Dawn L.;
Chen, Xiangning;
Pato, Carlos N.;
Riley, Brien P.;
Kendler, Kenneth S.;
Fanous, Ayman H.

Publication type:

Article

Comprehensive Gene-Based Association Study of a Chromosome 20 Linked Region Implicates Novel Risk Loci for Depressive Symptoms in Psychotic Illness.

Published in:

PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0021440

By:

Bigdeli, T. Bernard;
Maher, Brion S.;
Zhao, Zhongming;
van den Oord, Edwin J. C. G.;
Thiselton, Dawn L.;
Sun, Jingchun;
Webb, Bradley T.;
Amdur, Richard L.;
Wormley, Brandon;
O'Neill, Francis A.;
Walsh, Dermot;
Riley, Brien P.;
Kendler, Kenneth S.;
Fanous, Ayman H.

Publication type:

Article

Affect Dysregulation and Disorders of the Self.

Published in:

2004

By:

Thiselton, Dawn L.

Publication type:

Book Review

A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect.

Published in:

Human Genetics, 2001, v. 109, n. 5, p. 498, doi. 10.1007/s004390100600

By:

Thiselton, Dawn L.;
Alexander, Christiane;
Morris, Alex;
Brooks, Simon;
Rosenberg, Thomas;
Eiberg, Hans;
Kjer, Birgit;
Kjer, Poul;
Bhattacharya, Shomi S.;
Votruba, Marcela

Publication type:

Article

An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 12, p. 3316

By:

Morris, Derek W.;
Pearson, Richard D.;
Cormican, Paul;
Kenny, Elaine M.;
O'Dushlaine, Colm T.;
Perreault, Louis-Philippe Lemieux;
Giannoulatou, Eleni;
Tropea, Daniela;
Maher, Brion S.;
Wormley, Brandon;
Kelleher, Eric;
Fahey, Ciara;
Molinos, Ines;
Bellini, Stefania;
Pirinen, Matti;
Strange, Amy;
Freeman, Colin;
Thiselton, Dawn L.;
Elves, Rachel L.;
Regan, Regina

Publication type:

Article

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).

Published in:

Human Molecular Genetics, 2012, v. 21, n. 16, p. 3647, doi. 10.1093/hmg/dds194

By:

Webb, Tom R.;
Parfitt, David A.;
Gardner, Jessica C.;
Martinez, Ariadna;
Bevilacqua, Dalila;
Davidson, Alice E.;
Zito, Ilaria;
Thiselton, Dawn L.;
Ressa, Jacob H.C.;
Apergi, Marina;
Schwarz, Nele;
Kanuga, Naheed;
Michaelides, Michel;
Cheetham, Michael E.;
Gorin, Michael B.;
Hardcastle, Alison J.

Publication type:

Article