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Felipe Benavides

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Publications

4

Citations

282

H-Index

4

Active since

2014

Affiliations

Clínica Alemana(Current)

Universidad del Desarrollo

Fundación Chile

Hospital Padre Hurtado

Hospital Roberto del Rio

Felipe Benavides is an author at Clínica Alemana specializing in medicine, genetics, and molecular genetics.

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Top concepts

Publications per year

2014–2018

4

Publications

4

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome

M. Cecilia Poli, Frédéric Ebstein, Sarah K. Nicholas et al. · The American Journal of Human Genetics · 2018 · 163 citations · Full text

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Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study

Gabriela M. Repetto, Maria Guzman, Iris Delgado et al. · BMJ Open · 2014 · 60 citations · Full text

Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients

Luis León, Felipe Benavides, Karena Espinoza et al. · Scientific Reports · 2017 · 32 citations · Full text

Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2

Tingwei Guo, Alexander Diacou, Hiroko Nomaru et al. · Human Molecular Genetics · 2018 · 27 citations · Full text

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