Publikationen in Zusammenarbeit mit Forschern von Centro de Regulación Genómica (16)

2023

  1. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

    Genome Medicine, Vol. 15, Núm. 1

  2. microRNA sequencing for biomarker detection in the diagnosis, classification and prognosis of Diffuse Large B Cell Lymphoma

    Scientific reports, Vol. 13, Núm. 1, pp. 12159

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

  3. Transcriptome analysis in LRRK2 and idiopathic Parkinson’s disease at different glucose levels

    npj Parkinson's Disease, Vol. 7, Núm. 1

2020

  1. Transcriptomic differences in MSA clinical variants

    Scientific Reports, Vol. 10, Núm. 1

2019

  1. PATJ Low Frequency Variants Are Associated with Worse Ischemic Stroke Functional Outcome: A Genome-Wide Meta-Analysis

    Circulation Research, Vol. 124, Núm. 1, pp. 114-120

2018

  1. MicroRNA alterations in iPSC-derived dopaminergic neurons from Parkinson disease patients

    Neurobiology of Aging, Vol. 69, pp. 283-291

2017

  1. GRECOS Project (Genotyping Recurrence Risk of Stroke): The Use of Genetics to Predict the Vascular Recurrence after Stroke

    Stroke, Vol. 48, Núm. 5, pp. 1147-1153

2016

  1. Orexin and sleep quality in anorexia nervosa: Clinical relevance and influence on treatment outcome

    Psychoneuroendocrinology, Vol. 65, pp. 102-108

  2. Smell–taste dysfunctions in extreme weight/eating conditions: analysis of hormonal and psychological interactions

    Endocrine, Vol. 51, Núm. 2, pp. 256-267

2015

  1. Circulating betatrophin levels are increased in anorexia and decreased in morbidly obese women

    Journal of Clinical Endocrinology and Metabolism, Vol. 100, Núm. 9, pp. E1188-E1196

2014

  1. Association of irisin with fat mass, resting energy expenditure, and daily activity in conditions of extreme body mass index

    International Journal of Endocrinology, Vol. 2014

2013

  1. Targeting the endocannabinoid system in the treatment of fragile X syndrome

    Nature Medicine, Vol. 19, Núm. 5, pp. 603-607

2009

  1. Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder

    Human Molecular Genetics, Vol. 18, Núm. 10, pp. 1795-1804

2008

  1. Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

    BMC Medical Genetics, Vol. 9