Publications (51) MARIA ITXASO MARTI CARRERA publications

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2025

  1. Evaluación de siete programas bioinformáticos para el análisis terciario de datos genómicos generados a partir de la secuenciación del exoma completo en un grupo piloto de pacientes

    Advances in Laboratory Medicine

  2. Evaluación de siete programas bioinformáticos para el análisis terciario de datos genómicos generados a partir de la secuenciación del exoma completo en un grupo piloto de pacientes

    Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, Núm. 6, pp. 37-45

  3. Evaluación de siete programas bioinformáticos para el análisis terciario de datos genómicos generados a partir de la secuenciación del exoma completo en un grupo piloto de pacientes

    Advances in Laboratory Medicine, Vol. 6, Núm. 1, pp. 37-45

  4. Evaluating seven bioinformatics platforms for tertiary analysis of genomic data from whole exome sequencing in a pilot group of patients

    Advances in Laboratory Medicine

  5. Evaluating seven bioinformatics platforms for tertiary analysis of genomic data from whole exome sequencing in a pilot group of patients

    Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, Núm. 6, pp. 28-36

2024

  1. CT angiography reconstruction of a rotational vertebral artery syndrome

    Archives of Disease in Childhood

  2. Clinical and Molecular Profiling in GNAO1 Permits Phenotype–Genotype Correlation

    Movement Disorders, Vol. 39, Núm. 9, pp. 1578-1591

  3. Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy

    Frontiers in Cell and Developmental Biology, Vol. 12

  4. Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation

    Brain, Vol. 147, Núm. 5, pp. 1899-1913

2023

  1. ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

    Genome medicine, Vol. 15, Núm. 1, pp. 68

  2. Environmental health knowledge of healthcare professionals: Instrument development and validation using the Rasch model

    Environmental Research, Vol. 235

  3. Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1

    International Journal of Molecular Sciences, Vol. 24, Núm. 2

  4. Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy

    International Journal of Molecular Sciences, Vol. 24, Núm. 22

  5. Opsoclonus-myoclonus syndrome: clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort

    Neurologia, Vol. 38, Núm. 2, pp. 93-105

2022

  1. Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

    Neurology, Vol. 98, Núm. 9, pp. E912-E923

  2. Genetic diagnosis of basal ganglia disease in childhood

    Developmental Medicine and Child Neurology, Vol. 64, Núm. 6, pp. 743-752

  3. Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias

    International Journal of Molecular Sciences, Vol. 23, Núm. 19

  4. Muturreko goiztiarren profil neuropsikologikoaren luzetarako azterketa

    Uztaro: giza eta gizarte-zientzien aldizkaria, Núm. 121, pp. 137-152

  5. Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study

    Journal of Medical Genetics, Vol. 59, Núm. 4, pp. 399-409

2021

  1. A Validated WISC-V Short-Form to Estimate Intellectual Functioning in Very Preterm Children at Early School Age

    Frontiers in Psychology, Vol. 12