Concepedia

Carmen Orellana

CO

45

Publications

1.7K

Citations

25

H-Index

1987

Active since

Affiliations

Hospital Universitari i Politècnic La Fe(Current)

Centre for Biomedical Network Research on Rare Diseases

Radboud University Nijmegen

Universitat de València

Radboud University Medical Center

Carmen Orellana is an author at Hospital Universitari i Politècnic La Fe specializing in medicine, genetics, and pathology.

ORCID

Top concepts

Publications per year

1987–2022

45

Publications

45

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing

Francisco Martı́nez, Alfonso Caro‐Llopis, Mónica Rosello et al. · Journal of Medical Genetics · 2016 · 128 citations

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano et al. · Genetics in Medicine · 2018 · 127 citations · Full text

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Jason O'Rawe, Yiyang Wu, Max J. Dörfel et al. · The American Journal of Human Genetics · 2015 · 125 citations · Full text

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Keren Machol, Justine Rousseau, Sophie Ehresmann et al. · The American Journal of Human Genetics · 2018 · 88 citations · Full text

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

Sureni V. Mullegama, Jill A. Rosenfeld, Carmen Orellana et al. · European Journal of Human Genetics · 2013 · 86 citations · Full text

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