M.P. Botella

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

Gillian Rice, Gabriella Forte, Marcin Szynkiewicz et al. · The Lancet Neurology · 2013 · 438 citations

Life Sciences, Genetics, Molecular Genetics +16

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders

Marta Codina‐Solà, Benjamín Rodríguez‐Santiago, Aïda Homs et al. · Molecular Autism · 2015 · 135 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

Emilia K. Bijlsma, Andrew Collins, Filomena Tiziana Papa et al. · European Journal of Medical Genetics · 2012 · 54 citations

Life Sciences, Genetics, Molecular Genetics +14

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

Michael Bauer, Uwe Kölsch, Renate Krüger et al. · Journal of Clinical Immunology · 2015 · 48 citations · Full text

Life Sciences, Genetics, Immunology +14

Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature

Pradeep Vasudevan, Sixto García‐Miñáur, M.P. Botella et al. · Clinical Dysmorphology · 2005 · 22 citations

Medicine, Genetics, Ophthalmology +9