M
Maria P. Botella
Publications - 3
Citations - 457
Maria P. Botella is an academic researcher. The author has contributed to research in topics: Heritability of autism & RNase P. The author has an hindex of 3, co-authored 3 publications receiving 391 citations.
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Journal ArticleDOI
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 I. Rice,Gabriella Forte,Marcin Szynkiewicz,Diana Chase,Alec Aeby,Mohamed S Abdel-Hamid,Sam Ackroyd,Rebecca L. Allcock,Kathryn Bailey,Umberto Balottin,Christine Barnerias,Geneviève Bernard,Christine Bodemer,Maria P. Botella,Cristina Cereda,Kate Chandler,Lyvia Dabydeen,Russell C. Dale,Corinne De Laet,Christian de Goede,Mireia Del Toro,Laila Effat,Noemi Nunez Enamorado,Elisa Fazzi,Blanca Gener,Madli Haldre,Jean-Pierre S-M Jp Lin,John Jh Livingston,Charles Marques Lourenço,Wilson Marques,Patrick J. Oades,Pärt Peterson,Magnhild Rasmussen,Agathe Roubertie,Johanna L. Schmidt,Stavit A. Shalev,Rogelio Simon,Ronen Spiegel,Kathryn Kj Swoboda,Samia Sa Temtamy,Grace Vassallo,Catheline Vilain,Julie Vogt,Vanessa Wermenbol,William Wp Whitehouse,Doriette Soler,Ivana Olivieri,Simona Orcesi,Mona Ms Aglan,Maha S. Zaki,Ghada Gm Abdel-Salam,Adeline Vanderver,Kai Kisand,Flore Rozenberg,Pierre Lebon,Yanick J. Crow,Yanick J. Crow +56 more
TL;DR: AGS is consistently associated with an interferon signature, which is apparently sustained over time and can thus be used to differentiate patients with AGS from controls, and neutralisation assays suggested that measurable antiviral activity was related toInterferon α production.
Journal ArticleDOI
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.
Marta Codina-Solà,Benjamín Rodríguez-Santiago,Aïda Homs,Javier Santoyo,Maria Rigau,Gemma Aznar-Laín,Miguel Del Campo,Blanca Gener,Elisabeth Gabau,Maria P. Botella,Armand Gutiérrez-Arumí,Guillermo Antiñolo,Luis A. Pérez-Jurado,Ivon Cuscó +13 more
TL;DR: Integrative analysis of WES and blood RNAseq data has proven to be an efficient strategy to identify likely monogenic forms of ASD, as well as additional rare inherited mutations that can contribute to ASD risk in a multifactorial manner.
Journal ArticleDOI
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.
Gillian I. Rice,Gillian I. Rice,Martin A M Reijns,Stephanie R. Coffin,Gabriella Forte,Gabriella Forte,Beverley Anderson,Beverley Anderson,Marcin Szynkiewicz,Marcin Szynkiewicz,Hannah Gornall,Hannah Gornall,David Gent,David Gent,Andrea Leitch,Maria P. Botella,Elisa Fazzi,Blanca Gener,Lieven Lagae,Ivana Olivieri,Simona Orcesi,Kathryn J. Swoboda,Fred W. Perrino,Andrew P. Jackson,Yanick J. Crow,Yanick J. Crow +25 more
TL;DR: Molecular, biochemical, and cellular evidence is provided for the pathogenicity of two synonymous variants in RNASEH2A that cause Aicardi–Goutières syndrome and a small amount of full‐length active protein is apparently produced in an individual homozygous for this mutation.