Roser Corominas

Roser Corominas

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Roser Corominas

Roser Corominas

Publications by authors named "Roser Corominas"

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Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to Application.

Front Genet 2019 3;10:258. Epub 2019 Apr 3.

Shanghai Mental Health Center, School of Biomedical Engineering, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

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https://www.frontiersin.org/article/10.3389/fgene.2019.00258
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http://dx.doi.org/10.3389/fgene.2019.00258DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6456656PMC
April 2019

bigSCale: an analytical framework for big-scale single-cell data.

Genome Res 2018 06 3;28(6):878-890. Epub 2018 May 3.

CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), 08028 Barcelona, Spain.

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http://dx.doi.org/10.1101/gr.230771.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5991513PMC
June 2018

Comprehensive Analyses of Tissue-Specific Networks with Implications to Psychiatric Diseases.

Methods Mol Biol 2017 ;1613:371-402

Department of Psychiatry, University of California San Diego, 9500 Gilman Drive #0603, La Jolla, CA, 92093, USA.

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http://dx.doi.org/10.1007/978-1-4939-7027-8_15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5699888PMC
May 2018

Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.

Sci Rep 2017 05 31;7(1):2514. Epub 2017 May 31.

Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1038/s41598-017-02554-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5451382PMC
May 2017

A proteome-scale map of the human interactome network.

Cell 2014 Nov;159(5):1212-1226

Center for Cancer Systems Biology (CCSB) and Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA 02215, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://llama.mshri.on.ca/publications/Rolland_Cell_2014.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S009286741401422
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http://dx.doi.org/10.1016/j.cell.2014.10.050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266588PMC
November 2014

Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies.

Mol Genet Genomic Med 2013 Nov 2;1(4):206-22. Epub 2013 Jul 2.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona Barcelona, Spain ; Institut de Biomedicina de la Universitat de Barcelona (IBUB) Barcelona, Spain ; Center for Biomedical Network Research on Rare Diseases (CIBERER), Institute of Health Carlos III Spain.

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http://dx.doi.org/10.1002/mgg3.24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865589PMC
November 2013

SNP variants within the vanilloid TRPV1 and TRPV3 receptor genes are associated with migraine in the Spanish population.

Am J Med Genet B Neuropsychiatr Genet 2012 Jan 7;159B(1):94-103. Epub 2011 Dec 7.

Facultat de Biologia, Departament de Genètica, Universitat de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1002/ajmg.b.32007DOI Listing
January 2012

A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosis.

Proc Natl Acad Sci U S A 2010 Jan 8;107(4):1672-7. Epub 2010 Jan 8.

Laboratory of Molecular Physiology and Channelopathies, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Spain.

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http://dx.doi.org/10.1073/pnas.0908359107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2824376PMC
January 2010

Two-stage case-control association study of dopamine-related genes and migraine.

BMC Med Genet 2009 Sep 21;10:95. Epub 2009 Sep 21.

Grup de Recerca en Neurologia Infantil, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1186/1471-2350-10-95DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2758864PMC
September 2009

Familial hemiplegic migraine: linkage to chromosome 14q32 in a Spanish kindred.

Neurogenetics 2009 Jul 20;10(3):191-8. Epub 2009 Jan 20.

Grup de Recerca en Neurologia Infantil i Psiquiatria Genètica, Institut de Recerca Hospital Universitari Vall d'Hebron, Pg. Vall d'Hebron 119-129, 08035 Barcelona, Spain.

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http://dx.doi.org/10.1007/s10048-008-0169-6DOI Listing
July 2009

Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene.

J Neurol Sci 2009 May 20;280(1-2):10-4. Epub 2009 Feb 20.

Grup de Recerca en Neurologia Infantil i Psiquiatria Genètica, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.jns.2009.01.005DOI Listing
May 2009

Contribution of syntaxin 1A to the genetic susceptibility to migraine: a case-control association study in the Spanish population.

Neurosci Lett 2009 May 6;455(2):105-9. Epub 2009 Mar 6.

Grup de Recerca en Neurologia Infantil i Psiquiatria Genètica, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.neulet.2009.03.011DOI Listing
May 2009

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.

Genome Res 2008 May 21;18(5):683-94. Epub 2008 Feb 21.

Genetics Unit, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona 08003, Spain.

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http://dx.doi.org/10.1101/gr.073197.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2336808PMC
May 2008