Laia Rodríguez‐Revenga

Publications

Citations

H-Index

2003

Active since

Affiliations

Consorci Institut D'Investigacions Biomediques August Pi I Sunyer(Current)

Hospital Clínic de Barcelona

Centre for Biomedical Network Research on Rare Diseases

Instituto de Investigación de Enfermedades Raras

Instituto de Salud Carlos III

Laia Rodríguez‐Revenga is an author at Consorci Institut D'Investigacions Biomediques August Pi I Sunyer specializing in medicine, genetics, and fragile x spectrum.

ORCID

Top concepts

MedicineGeneticsFragile X SpectrumDevelopmental DelayMolecular BiologyFragile X PremutationNeurologyMolecular GeneticsGenetic EpidemiologyGynecology

Publications per year

2003–2022

Publications

The Fine-Scale and Complex Architecture of Human Copy-Number Variation

George H. Perry, Amir Ben‐Dor, Anya Tsalenko et al. · The American Journal of Human Genetics · 2008 · 342 citations · Full text

Cognitive Science, Data Deduplication, Numerical Competence +5

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families

Laia Rodríguez‐Revenga, Irene Madrigal, Javier Pagonabarraga et al. · European Journal of Human Genetics · 2009 · 316 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7

A novel mutation in JARID1C gene associated with mental retardation

Cristina Santos, Laia Rodríguez‐Revenga, Irene Madrigal et al. · European Journal of Human Genetics · 2006 · 75 citations · Full text

Genetic Disorder, Genetics, Psychiatric Genetics +7

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

Irene Madrigal, Laia Rodríguez‐Revenga, Lluı́s Armengol et al. · BMC Genomics · 2007 · 64 citations · Full text

Assessment of QF-PCR as the First Approach in Prenatal Diagnosis

Célia Bádenas, Laia Rodríguez‐Revenga, Carmen Morales et al. · Journal of Molecular Diagnostics · 2010 · 60 citations · Full text

Early Diagnosis, Prenatal Genetic Testing, Pediatrics +8

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