Daniel Trujillano

Daniel Trujillano

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Daniel Trujillano

Daniel Trujillano

Publications by authors named "Daniel Trujillano"

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16Publications

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Contribution of the TTC21B gene to glomerular and cystic kidney diseases.

Nephrol Dial Transplant 2017 01;32(1):151-156

Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1093/ndt/gfv453DOI Listing
January 2017

A comprehensive global genotype-phenotype database for rare diseases.

Mol Genet Genomic Med 2017 Jan 23;5(1):66-75. Epub 2016 Nov 23.

Centogene AGRostockGermany; Albrecht-Kossel-Institute for NeuroregenerationMedical University RostockRostockGermany.

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http://dx.doi.org/10.1002/mgg3.262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241210PMC
January 2017

Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.

Eur J Hum Genet 2015 Sep 19;23(9):1192-9. Epub 2014 Nov 19.

1] Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain [2] Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1038/ejhg.2014.252DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538209PMC
September 2015

Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer.

J Mol Diagn 2015 Mar 31;17(2):162-70. Epub 2014 Dec 31.

Centogene AG, Rostock, Germany; Albrecht-Kossel-Institute for Neuroregeneration, Medical University Rostock, Rostock, Germany.

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http://dx.doi.org/10.1016/j.jmoldx.2014.11.004DOI Listing
March 2015

Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.

Mol Genet Genomic Med 2014 Sep 23;2(5):412-21. Epub 2014 May 23.

Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain ; Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1002/mgg3.82DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190876PMC
September 2014

Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.

Eur J Hum Genet 2014 Apr 14;22(4):528-34. Epub 2013 Aug 14.

1] Genomics and Disease Group, Bioinformatics and Genomics Programme, Centre for Genomic Regulation (CRG), Barcelona, Spain [2] Universitat Pompeu Fabra (UPF), Barcelona, Spain [3] Hospital del Mar Medical Research Institute (IMIM), Barcelona, Spain [4] CIBER in Epidemiology and Public Health (CIBERESP), Barcelona, Spain.

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http://dx.doi.org/10.1038/ejhg.2013.175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953903PMC
April 2014

Long noncoding RNAs, chromatin, and development.

ScientificWorldJournal 2010 Jan 8;10:90-102. Epub 2010 Jan 8.

School of Life Sciences, Oxford Brookes University, UK.

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http://downloads.hindawi.com/journals/tswj/2010/180798.pdf
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http://www.hindawi.com/journals/tswj/2010/180798/abs/
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http://dx.doi.org/10.1100/tsw.2010.7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763804PMC
January 2010