Publicacións nas que colabora con Ana Fernández Marmiesse (24)

2020

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

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

2019

  1. Free-access copy-number variant detection tools for targeted next-generation sequencing data

    Mutation Research - Reviews in Mutation Research, Vol. 779, pp. 114-125

  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. New CTSA mutation in early infantile galactosialidosis

    Pediatrics International

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

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

  5. 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. Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations

    Journal of Human Genetics, Vol. 62, Núm. 2, pp. 185-189

  2. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia

    Journal of Human Genetics, Vol. 62, Núm. 3, pp. 355-360

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

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

  2. 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

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

    European Journal of Human Genetics

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

  3. Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis

    European Journal of Paediatric Neurology, Vol. 19, Núm. 6, pp. 652-659

  4. Vitamin and mineral status in patients with hyperphenylalaninemia

    Molecular Genetics and Metabolism, Vol. 115, Núm. 4, pp. 145-150

2014

  1. Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

    Orphanet Journal of Rare Diseases, Vol. 9, Núm. 1

  2. The early detection of Salla disease through second-tier tests in newborn screening: How to face incidental findings

    European Journal of Medical Genetics, Vol. 57, Núm. 9, pp. 527-531