Camilo E. Villarroel

Clinical spectrum of <i>SCN2A</i> mutations expanding to Ohtahara syndrome

Kazuyuki Nakamura, Mitsuhiro Kato, Hitoshi Osaka et al. · Neurology · 2013 · 196 citations

Life Sciences, Genetics, Molecular Genetics +17

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

Björn Fischer‐Zirnsak, Nathalie Escande‐Beillard, Jaya Ganesh et al. · The American Journal of Human Genetics · 2015 · 88 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

Setleis syndrome in Mexican-Nahua sibs due to a homozygous <i>TWIST2</i> frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification

David E. Cervantes‐Barragán, Camilo E. Villarroel, A. Medrano-Hernandez et al. · Journal of Medical Genetics · 2011 · 31 citations

Life Sciences, Genetics, Molecular Genetics +14

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing

Diana Matías-Pérez, Leopoldo A. García‐Montaño, Marisa Cruz‐Aguilar et al. · Journal of Human Genetics · 2018 · 26 citations

Life Sciences, Genetics, Molecular Genetics +17

Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations.

Camilo E. Villarroel, Cristina Villanueva‐Mendoza, Lorena Orozco et al. · PubMed · 2008 · 24 citations

Life Sciences, Genetics, Molecular Genetics +17