José Pedro Vieira

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson et al. · Nature Genetics · 2014 · 591 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Beverley Anderson, Paul R. Kasher, Joséphine Mayer et al. · Nature Genetics · 2012 · 291 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Identification of novel genetic causes of Rett syndrome-<i>like</i> phenotypes

Fátima Lopes, Mafalda Barbosa, Adam Ameur et al. · Journal of Medical Genetics · 2016 · 194 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type

Teresa Temudo, Elisabete Ramos, Karin Ziliotto Dias et al. · Movement Disorders · 2008 · 93 citations

Life Sciences, Genetics, Neurology +12

Stereotypies in Rett syndrome

Teresa Temudo, Pedro Oliveira, Mònica Santos et al. · Neurology · 2007 · 83 citations · Full text

Life Sciences, Genetics, Neurology +10