Miriam Fanjul‐Fernández

Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome

Xosé S. Puente, Vı́ctor Quesada, Fernando G. Osorio et al. · The American Journal of Human Genetics · 2011 · 210 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Meeting the challenges of implementing rapid genomic testing in acute pediatric care

Zornitza Stark, Sebastian Lunke, Gemma R. Brett et al. · Genetics in Medicine · 2018 · 162 citations · Full text

Medicine, Genetics, Pediatrics +17

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator <i>NPRL3</i>

Joe C. Sim, Thomas Scerri, Miriam Fanjul‐Fernández et al. · Annals of Neurology · 2015 · 135 citations

Life Sciences, Genetics, Neurology +17

Resistance to Bleomycin-Induced Lung Fibrosis in MMP-8 Deficient Mice Is Mediated by Interleukin-10

Emilio García-Prieto, Adrián González-López, Sandra Cabrera et al. · PLoS ONE · 2010 · 106 citations · Full text

Veterinary Medicine, Pathobiology, Pathology +17

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli et al. · Genetics in Medicine · 2021 · 104 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17