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List of works by Benjamín Rodríguez-Santiago

A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region.

scientific article published on 18 September 2015

A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data

scientific article

Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study

scientific article published on 25 January 2011

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.

scientific article published on 26 February 2009

Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication

scientific article published on 21 June 2013

Characterization of large structural genetic mosaicism in human autosome

journal article published in 2015

Cholinesterase inhibitor rivastigmine enhance the mitochondrial electron transport chain in lymphocytes of patients with Alzheimer's disease.

scientific article published in January 2003

Clinical implication of FMR1 intermediate alleles in a Spanish population.

scientific article published on 31 March 2018

Contribution of rare copy number variants to isolated human malformations

scientific article

De novo copy number variants associated with intellectual disability have a paternal origin and age bias

scientific article

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

article by Alexander Hoischen et al published 26 June 2011 in Nature Genetics

Detectable clonal mosaicism and its relationship to aging and cancer

journal article published in 2012

Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia

scientific article published on 23 January 2017

Erratum to: The UBC-40 Urothelial Bladder Cancer Cell Line Index: a genomic resource for functional studies.

scientific article published on 30 November 2015

Expression of mitochondrial genes and transcription estimation in different brain areas in Alzheimer's disease patients.

scientific article published in March 2005

Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

journal article published in 2016

Further delineation of the phenotype caused by loss of function mutations in PRMT7

scientific article published on 10 July 2018

Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility

scientific article

Genome-wide CNV analysis replicates the association between GSTM1 deletion and bladder cancer: a support for using continuous measurement from SNP-array data

scientific article

Improvement of mitochondrial toxicity in patients receiving a nucleoside reverse-transcriptase inhibitor-sparing strategy: results from the Multicenter Study with Nevirapine and Kaletra (MULTINEKA).

scientific article published in September 2009

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders

scientific article published on 15 April 2015

MAPT gene duplications are not a cause of frontotemporal lobar degeneration.

scientific article published in August 2007

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

scientific article published on 26 April 2013

Mild improvement in mitochondrial function after a 3-year antiretroviral treatment interruption despite persistent impairment of mitochondrial DNA content

scientific article published in July 2010

Mitochondrial DNA depletion and respiratory chain enzyme deficiencies are present in peripheral blood mononuclear cells of HIV-infected patients with HAART-related lipodystrophy.

scientific article published in August 2003

Mitochondrial effects of antiretroviral therapies in asymptomatic patients.

scientific article published in February 2004

Mitochondrial respiratory chain in brain homogenates: activities in different brain areas in patients with Alzheimer's disease.

scientific article published in February 2005

Mosaic loss of chromosome Y is associated with common variation near TCL1A

scientific article

Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome

scientific article

NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine

scientific article

Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.

scientific article

Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants

scientific article

Reply to 'Mosaic loss of chromosome Y in leukocytes matters'

scientific article published on 01 January 2019

Short communication: reversible mitochondrial respiratory chain impairment during symptomatic hyperlactatemia associated with antiretroviral therapy

scientific article published in November 2003

Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis.

scientific article published on 24 April 2013

Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis.

scientific article published in March 2015

Síndrome de Bardet-Biedl: Aplicación diagnóstica de la secuenciación del exoma

scientific article published on 26 October 2013

The UBC-40 Urothelial Bladder Cancer cell line index: a genomic resource for functional studies

scientific article published on 22 May 2015

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