Fundación Pública Galega de Medicina Xenómica
Centro de investigación
Instituto de Investigación Sanitaria de Santiago de Compostela
Santiago de Compostela, EspañaPublicacións en colaboración con investigadores/as de Instituto de Investigación Sanitaria de Santiago de Compostela (104)
2024
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A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis
Journal of Molecular Diagnostics, Vol. 26, Núm. 1, pp. 17-28
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A genome-wide association study meta-analysis in a European sample of stage III/IV grade C periodontitis patients ≤35 years of age identifies new risk loci
Journal of Clinical Periodontology, Vol. 51, Núm. 4, pp. 431-440
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Bilateral Uveal Melanoma: An Insight into Genetic Predisposition in Four New Unrelated Patients and Review of Published Cases
Journal of Clinical Medicine, Vol. 13, Núm. 11
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Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2
Communications biology, Vol. 7, Núm. 1, pp. 202
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Cognitive and clinical predictors of a long-term course in obsessive compulsive disorder: A machine learning approach in a prospective cohort study
Journal of Affective Disorders, Vol. 350, pp. 648-655
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Exploring low clozapine C/D ratios, inverted clozapine-norclozapine ratios and undetectable concentrations as measures of non-adherence in clozapine patients: A literature review and a case series of 17 patients from 3 studies
Schizophrenia Research, Vol. 268, pp. 293-301
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Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes
Nature Communications, Vol. 15, Núm. 1
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Gene editing: a near future for the treatment of genetic kidney diseases
Kidney International
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Genetic linkage analysis of head and neck cancer in a Spanish family
Oral Diseases, Vol. 30, Núm. 3, pp. 1032-1039
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Is There a Bias Towards Males in the Diagnosis of Autism? A Systematic Review and Meta-Analysis
Neuropsychology Review
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Meta-analysis of genome-wide association studies for cancer therapy-related cardiovascular dysfunction and functional mapping highlight an intergenic region close to TP63
Scientific Reports, Vol. 14, Núm. 1
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Novel risk loci for COVID-19 hospitalization among admixed American populations
eLife, Vol. 13
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Population-based detection of children ASD/ADHD comorbidity from atypical sensory processing
Applied Intelligence, Vol. 54, Núm. 20, pp. 9906-9923
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Prevalence and population genetic analyses of parasites in invasive Vespa velutina and native Hymenoptera
Journal of Invertebrate Pathology, Vol. 207
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Role of CYP2D6 and CYP3A4 polymorphisms on aripiprazole and dehydroaripiprazole concentrations in patients undergoing long-acting treatment
Progress in Neuro-Psychopharmacology and Biological Psychiatry, Vol. 135
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The impact of genetic variations in the serotonergic system on symptom severity and clinical outcome in functional neurological disorders
Journal of Psychosomatic Research, Vol. 186
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Towards precision medicine of long-acting aripiprazole through population pharmacokinetic modelling
Psychiatry Research, Vol. 333
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Unveiling the Significance of HLA and KIR Diversity in Underrepresented Populations
Biomedicines, Vol. 12, Núm. 6
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Use of multi-gene panels in patients at high risk of hereditary digestive cancer: position statement of AEG, SEOM, AEGH and IMPaCT-GENÓMICA consortium
Gastroenterologia y Hepatologia, Vol. 47, Núm. 3, pp. 293-318
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Utility of polygenic risk scores to aid in the diagnosis of rheumatic diseases
Best Practice and Research: Clinical Rheumatology