Inmaculada Rueda‐Arenas

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

Lara Rodríguez‐Laguna, Kristina Ibáñez, Gema Gordo et al. · Genetics in Medicine · 2018 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype–phenotype correlations

José A. Caparrós‐Martín, Verónica Pulido, Víctor Martínez‐Glez et al. · American Journal of Medical Genetics Part A · 2013 · 56 citations

Life Sciences, Genetics, Molecular Genetics +16

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

José A. Caparrós‐Martín, Alessandro De Luca, François Cartault et al. · Human Molecular Genetics · 2015 · 55 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

Julián Nevado, Jill A. Rosenfeld, Rocío Mena et al. · European Journal of Human Genetics · 2015 · 35 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor

Leila Cabral de Almeida Cardoso, Lara Rodríguez‐Laguna, M. Carmen Crespo et al. · PLoS ONE · 2015 · 10 citations · Full text

Medicine, Genetics, Oncology +17