D
Denise Brocklebank
Researcher at University of Oxford
Publications - 5
Citations - 1110
Denise Brocklebank is an academic researcher from University of Oxford. The author has contributed to research in topics: Population & Genetic linkage. The author has an hindex of 5, co-authored 5 publications receiving 1033 citations. Previous affiliations of Denise Brocklebank include Wellcome Trust Centre for Human Genetics.
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Journal ArticleDOI
Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset
Nancy S. Wexler,Judith Lorimer,Julie Porter,Fidela Gomez,Carol Moskowitz,Edith Shackell,Karen Marder,Penchaszadeh Gk,Simone A. Roberts,Javier Gayán,Denise Brocklebank,Stacey S. Cherny,Lon R. Cardon,Jacqueline Gray,Stephen R. Dlouhy,Sandra Wiktorski,Marion E. Hodes,P. Michael Conneally,J. B. Penney,James F. Gusella,Jang Ho Cha,Michael C. Irizarry,Diana Rosas,Steven M. Hersch,Zane R. Hollingsworth,Marcy E. MacDonald,Anne B. Young,J. Michael Andresen,David E. Housman,Margot de Young,Ernesto Bonilla,Theresa Stillings,Américo Negrette,S. Robert Snodgrass,Maria Dolores Martinez-Jaurrieta,Maria A. Ramos-Arroyo,Jacqueline Bickham,Juan Sanchez Ramos,Frederick J. Marshall,Ira Shoulson,Gustavo Rey,Andrew Feigin,Norman Arnheim,Amarilis Acevedo-Cruz,Leticia Acosta,Jose Alvir,Kenneth H. Fischbeck,Leslie M. Thompson,Angela Young,Leon S. Dure,Christopher J. O'Brien,Jane S. Paulsen,Adam M. Brickman,Denise Krch,Shelley Peery,Penelope Hogarth,Donald S. Higgins,Bernhard Landwehrmeyeri +57 more
TL;DR: A model estimated the components of additive genetic, shared environment, and nonshared environment variances confirming that approximately 40% of the variance remaining in onset age is attributable to genes other than the HD gene and 60% is environmental.
Journal ArticleDOI
A whole-genome scan and fine-mapping linkage study of auditory-visual synesthesia reveals evidence of linkage to chromosomes 2q24, 5q33, 6p12, and 12p12.
Julian E. Asher,Janine A. Lamb,Denise Brocklebank,Jean-Baptiste Cazier,Elena Maestrini,Laura Addis,Mallika Sen,Simon Baron-Cohen,Anthony P. Monaco +8 more
TL;DR: The results demonstrate that auditory-visual synesthesia is likely to be an oligogenic disorder subject to multiple modes of inheritance and locus heterogeneity, with important implications for the understanding of the role of genes in human cognition and perception.
Journal ArticleDOI
The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset.
J. Michael Andresen,Javier Gayán,Luc Djoussé,Simone Roberts,Denise Brocklebank,Stacey S. Cherny,Lon R. Cardon,James F. Gusella,Marcy E. MacDonald,Richard H. Myers,David E. Housman,Nancy S. Wexler,Judith Lorimer,Julie Porter,Fidela Gomez,Carol Moskowitz,Kelly Posner Gerstenhaber,Edith Shackell,Karen Marder,Penchaszadeh Gk,Simone A. Roberts,Adam M. Brickman,Jacqueline Gray,Stephen R. Dlouhy,Sandra Wiktorski,Marion E. Hodes,P. Michael Conneally,John B. Penney,Jang Ho Cha,Micheal Irizarry,Diana Rosas,Steven M. Hersch,Zane R. Hollingsworth,Anne B. Young,Margot de Young,Ernesto Bonilla,Theresa Stillings,Américo Negrette,S. Robert Snodgrass,Maria Dolores Martinez-Jaurrieta,Maria A. Ramos-Arroyoh,Jacqueline Bickham,Juan Sanchez Ramos,Frederick J. Marshall,Ira Shoulson,Gustavo Rey,Andrew Feigin,Norman Arnheim,Amarilis Acevedo-Cruz,Leticia Acosta,Jose Alvir,Kenneth H. Fischbeck,Leslie M. Thompson,Angela Young,Leon S. Dure,Christopher J. O'Brien,Jane S. Paulsen,Shelley Peery Moran,Denise Krch,Penelope Hogarth,Donald S. Higgins,Bernhard Landwehrmeyer,Michael R. Hayden,E. Almqvist,Ryan R. Brinkman,Oksana Suchowersky,Alexandra Durr,Catherine Dodé,Ferdinando Squitieri,Patrick J. Morrison,Patrick J. Morrison,Martha Nance,Christopher A. Ross,Russell L. Margolis,Adam Rosenblatt,Gómez Tortosai Estrella,David Mayo Cabrero,Ronald J. Trent,Elizabeth McCusker,Andrea Novelletto,Marina Frontali,J.S. Paulsen,Randi Jones,Andrea Zanko,Tetsuo Ashizawa,Alice Lazzarini,Jian-Liang Li,Jian-Liang Li,Vanessa C. Wheeler,Ana L. Russ,Gang Xu,Jayalakshmi S. Mysore,Tammy Gillis,Michael Hakky,L. Adrienne Cupples,Marie Saint-Hilaire,Steven M. Hersch +96 more
TL;DR: In this article, a two-segment exponential regression model was proposed for age-of-obstinence analysis of the CAG repeat expansion in the HD gene, and a plot of natural log-transformed age of onset against CAG-repeat length revealed this segmental relationship.
Journal ArticleDOI
Linkage and candidate gene studies of autism spectrum disorders in European populations
Richard Holt,Gabrielle Barnby,Elena Maestrini,Elena Bacchelli,Denise Brocklebank,Inês Sousa,Erik J. Mulder,Katri Kantojärvi,Irma Järvelä,Sabine M. Klauck,Fritz Poustka,Anthony J. Bailey,Anthony P. Monaco +12 more
TL;DR: The case for a more detailed study of the role of RELN and GRIK2 in autism susceptibility is strengthened, as well as identifying two new potential candidate genes, MKL2 and SND1.
Journal ArticleDOI
Neuropeptide S receptor 1 is a nonhormonal treatment target in endometriosis.
Thomas T. Tapmeier,Thomas T. Tapmeier,Nilufer Rahmioglu,Nilufer Rahmioglu,Jianghai Lin,Jianghai Lin,Bianca De Leo,Maik Obendorf,Muthuswamy Raveendran,Oliver Fischer,Cemsel Bafligil,Manman Guo,Ronald A. Harris,Holger Hess-Stumpp,Alexis Laux-Biehlmann,Ernesto Lowy,Gerton Lunter,Jessica Malzahn,Nicholas G. Martin,Fernando O. Martinez,Sanjiv Manek,Stefanie Mesch,Grant W. Montgomery,Grant W. Montgomery,Andrew P. Morris,Andrew P. Morris,Jens Nagel,Heather A. Simmons,Denise Brocklebank,Catherine Shang,Susan A. Treloar,Graham Wells,Christian M. Becker,Udo Oppermann,Thomas M. Zollner,Stephen Kennedy,Joseph W. Kemnitz,Jeffrey Rogers,Jeffrey Rogers,Krina T. Zondervan,Krina T. Zondervan +40 more
TL;DR: The NPSR1/NPS system is a genetically validated, non-hormonal target for the treatment of endometriosis with likely increased relevance to stage III/IV disease as discussed by the authors.