Benjamín Rodríguez‐Santiago

Author

Also Known As

B Rodriguez-Santiago, B Rodríguez-Santiago, B Rodríguez‐Santiago, B. Rodriguez-Santiago, B. Rodríguez-Santiago, B. Rodríguez‐Santiago, Benjamin Rodriguez-Santiago, Benjamin Rodriguez‐Santiago, Benjamin Rodríguez-Santiago, Benjamín Rodriguez-Santiago

Publications

3.1K

Citations

H-Index

Concepts

All Affiliations

Universitat Pompeu Fabra Centre for Biomedical Network Research on Rare Diseases Centro de Investigación Biomédica en Red Consorci Institut D'Investigacions Biomediques August Pi I Sunyer Universitat de Barcelona

About

Benjamín Rodríguez‐Santiago is an author at Universitat Pompeu Fabra specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	15	16	1.8K
2	Public Health	4	4	795
3	Natural Sciences	2	2	262
4	Health Sciences	1	1	79
5	Biology	1	1	15

Benjamín Rodríguez‐Santiago

Publications

2.8K

Citations

H-Index

Page 1

	Year	Citations
Detectable clonal mosaicism and its relationship to aging and cancer Kevin B. Jacobs, Meredith Yeager, Weiyin Zhou, Nature Genetics Cell DivisionTumor HeterogeneityDetectable Clonal MosaicismPathologyBreast Cancer	2012	585
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome Alexander Hoischen, Bregje W.M. van Bon, Benjamín Rodríguez‐Santiago, Nature Genetics Somatic VariantAutoimmune DiseaseMendelian DisorderGenetic DisorderGenetics	2011	277
Mosaic loss of chromosome Y is associated with common variation near TCL1A Weiyin Zhou, Mitchell J. Machiela, Neal D. Freedman, Nature Genetics ChromatinGenome InstabilityChromatin StructureMosaic LossCytogenetics	2016	226
Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome Mitchell J. Machiela, Weiyin Zhou, Eric Karlins, Nature Communications	2016	161
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders Marta Codina‐Solà, Benjamín Rodríguez‐Santiago, Aïda Homs, Molecular Autism	2015	134
The UBC-40 Urothelial Bladder Cancer cell line index: a genomic resource for functional studies Julie Earl, Daniel Rico, Enrique Carrillo de Santa Pau, BMC Genomics	2015	125
Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome Benjamín Rodríguez‐Santiago, Núria Malats, Nathaniel Rothman, The American Journal of Human Genetics ChromatinDevelopmental BiologyLarge Structural VariantsCytogeneticsMedicine	2010	119
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder Ivon Cuscó, Aida Medrano, Blanca Gener, Human Molecular Genetics Autism Spectrum DisordersGeneticsMolecular BiologyDisease Gene IdentificationGenomics	2009	115
De novo copy number variants associated with intellectual disability have a paternal origin and age bias Jayne Y. Hehir‐Kwa, Benjamín Rodríguez‐Santiago, Lisenka E.L.M. Vissers, Journal of Medical Genetics	2011	104
<i><scp>MLL2</scp></i> mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study Periklis Makrythanasis, Bregje W.M. van Bon, Marloes Steehouwer, Clinical Genetics Mendelian DisorderAutoimmune DiseaseGenetic DisorderMedicineGenetics	2013	102

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