Publicacións en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (33)

2020

  1. Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the MYH7 gene

    Acta Myologica, Vol. 39, Núm. 1, pp. 24-28

  2. PattRec: An easy-to-use CNV detection tool optimized for targeted NGS assays with diagnostic purposes

    Genomics, Vol. 112, Núm. 2, pp. 1245-1256

  3. Paucisymptomatic hyperCKemia due to a mutation in the ANO5 gene

    Neurologia

2019

  1. Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

    Frontiers in Neuroscience, Vol. 13

  2. Septo-optic dysplasia caused by a novel FLNA splice site mutation: A case report

    BMC Medical Genetics, Vol. 20, Núm. 1

2018

  1. A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder

    Movement Disorders, Vol. 33, Núm. 6, pp. 992-999

  2. Carbohydrate status in patients with phenylketonuria

    Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1

  3. Congenital hyperinsulinism in two siblings with ABCC8 mutation: Same genotype, different phenotypes

    Archives of Endocrinology and Metabolism, Vol. 62, Núm. 5, pp. 560-565

  4. New CTSA mutation in early infantile galactosialidosis

    Pediatrics International

  5. Ngs technologies as a turning point in rare disease resea rch , diagnosis and treatment

    Current Medicinal Chemistry, Vol. 25, Núm. 3, pp. 404-432

  6. Prioritization of variants detected by next generation sequencing according to the mutation tolerance and mutational architecture of the corresponding genes

    International Journal of Molecular Sciences, Vol. 19, Núm. 6

2017

  1. Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement

    Neuromuscular Disorders, Vol. 27, Núm. 2, pp. 188-192

2016

  1. A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation

    Muscle and Nerve, Vol. 54, Núm. 4, pp. 806-808

  2. Lipid profile status and other related factors in patients with Hyperphenylalaninaemia

    Orphanet Journal of Rare Diseases, Vol. 11, Núm. 1

  3. Molecular epidemiology, genotype-phenotype correlation and BH 4 responsiveness in Spanish patients with phenylketonuria

    Journal of Human Genetics, Vol. 61, Núm. 8, pp. 731-744

  4. Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy

    European Journal of Human Genetics

  5. Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions

    Neuromuscular Disorders, Vol. 26, Núm. 11, pp. 749-753

  6. Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome

    Endocrine, Vol. 54, Núm. 2, pp. 411-421

2015

  1. Corrigendum to "A glimpse into past, present, and future DNA sequencing" [Mol. Genet. Metab. 110 (2013) 3-24]

    Molecular Genetics and Metabolism

  2. Corrigendum to "Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening" [Mol. Genet. Metab. 110 (2013) 218-221]

    Molecular Genetics and Metabolism