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All papers authored by Sonia Mayo

This paper is made freely available by the publisher.

2024 Alba Gabaldon-Albero, Sonia Mayo

ORCID

, Francisco Martinez

NR4A2 as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies

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2023 Sonia Mayo

ORCID

, Irene Gómez-Manjón

ORCID

, Ana Victoria Marco-Hernández, Francisco Javier Fernández-Martínez

ORCID

, Ana Camacho, Francisco Martínez

ORCID

N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants

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2022 Sonia Mayo

ORCID

, Irene Gómez-Manjón

ORCID

, Gabriela Atencia, Ana Moreno-Izquierdo, David Escribano

ORCID

, F.-C.-O. Javier Fernández-Martínez

Noninvasive prenatal testing: How far can we reach detecting fetal copy number variations

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This paper is made freely available by the publisher.

Sonia Mayo

ORCID

, Irene Gómez-Manjón

ORCID

, Francisco Javier Fernández-Martínez

ORCID

, Ana Camacho, Francisco Martínez

ORCID

, Julián Benito-León

ORCID

CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy

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2021 Sonia Mayo

ORCID

, Irene Gómez-Manjón

ORCID

, F.-C.-O. Javier Fernández-Martínez, Ana Camacho, Francisco Martínez

ORCID

, Julián Benito-León

ORCID

Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature

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Sonia Mayo

ORCID

, Sandra Monfort

Letter to the Editor: Breastfeeding and COVID-19 Vaccine: Yes We Can

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2018 Irene Gómez-Manjón

ORCID

, Ana Moreno-Izquierdo, Sonia Mayo

ORCID

, Marta Moreno-García, Aitor Delmiro, David Escribano, F. Javier Fernández-Martínez

Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

S. Mayo

ORCID

, I. Gomez Manjon, A. Moreno Izquierdo, M. Moreno Garcia, Fernandez Martinez Fj

[Infantile epileptic encephalopathy: a good genetic study should be a priority].

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2017 Sonia Mayo

ORCID

, Sandra Monfort, Mónica Roselló, Carmen Orellana

ORCID

, Silvestre Oltra, Alfonso Caro-Llopis, Francisco Martínez

ORCID

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability

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2016 Farah R. Zahir

ORCID

, Tracy Tucker, Sonia Mayo

ORCID

, Carolyn J. Brown, Emilia L. Lim, Jonathan Taylor, Marco A. Marra, Fadi F. Hamdan, Jacques L. Michaud, Jan M. Friedman

Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes

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Francisco Martínez, Alfonso Caro-Llopis, Mónica Roselló, Silvestre Oltra, Sonia Mayo

ORCID

, Sandra Monfort, Carmen Orellana

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing

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Alfonso Caro-Llopis, Monica Rosello, Carmen Orellana, Silvestre Oltra, Sandra Monfort, Sonia Mayo

ORCID

, Francisco Martinez

De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?

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Nathalie Fieremans, Maureen Holvoet, Hilde Van Esch

ORCID

, Gert Van Goethem, Koenraad Devriendt, Monica Rosello, Sonia Mayo

ORCID

, Francisco Martinez, Shalini Jhangiani, Gibbs Ra, Donna M. Muzny, Lupski Jr, Richard A. Gibbs, James R. Lupski, Joris R. Vermeesch and 2 other authors

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern

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2015 Ana Perea-García, Amparo Andrés-Bordería, Sonia Mayo de Andrés

ORCID

, Amparo Sanz, Amanda M. Davis, Seth J. Davis, Peter Huijser, Lola Peñarrubia

Modulation of copper deficiency responses by diurnal and circadian rhythms inArabidopsis thaliana

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Sonia Mayo

ORCID

, Mónica Roselló, Sandra Monfort, Silvestre Oltra, Carmen Orellana, Francisco Martínez

ORCID

Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder

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Francisco Martinez

ORCID

, Purificación Marín-Reina, Amparo Sanchis-Calvo, Antonio Perez-Aytés, Silvestre Oltra, Mónica Roselló, Sonia Mayo

ORCID

, Sandra Monfort, Jorge Pantoja, Carmen Orellana

Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes

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Egle Preiksaitiene, Alfonso Caro, Eglė Benušienė, Silvestre Oltra, Carmen Orellana, Aušra Morkūnienė, Mónica Pilar Roselló, Jurate Kasnauskiene, Sandra Monfort, Vaidutis Kučinskas, Sonia Mayo

ORCID

, Francisco Martinez

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome

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Carmen Orellana, Mónica Roselló, Sandra Monfort, Sonia Mayo

ORCID

, Silvestre Oltra, Francisco Martínez

Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome

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Sonia Mayo

ORCID

, Sandra Monfort, Mónica Roselló, Silvestre Oltra, Carmen Orellana, Francisco Martínez

In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients

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2014 Mónica Roselló, Francisco Martínez, Sandra Monfort, Sonia Mayo

ORCID

, Silvestre Oltra, Carmen Orellana

Phenotype profiling of patients with intellectual disability and copy number variations

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