![Foto de Ana](/img/nophoto.png)
Ana
Fernández Marmiesse
Publicacións nas que colabora con Ana Fernández Marmiesse (26)
2020
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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
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Free-access copy-number variant detection tools for targeted next-generation sequencing data
Mutation Research - Reviews in Mutation Research, Vol. 779, pp. 114-125
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Septo-optic dysplasia caused by a novel FLNA splice site mutation: A case report
BMC Medical Genetics, Vol. 20, Núm. 1
2018
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A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder
Movement Disorders, Vol. 33, Núm. 6, pp. 992-999
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Carbohydrate status in patients with phenylketonuria
Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1
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New CTSA mutation in early infantile galactosialidosis
Pediatrics International
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Ngs technologies as a turning point in rare disease resea rch , diagnosis and treatment
Current Medicinal Chemistry, Vol. 25, Núm. 3, pp. 404-432
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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
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Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations
Journal of Human Genetics, Vol. 62, Núm. 2, pp. 185-189
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Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia
Journal of Human Genetics, Vol. 62, Núm. 3, pp. 355-360
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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
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Lipid profile status and other related factors in patients with Hyperphenylalaninaemia
Orphanet Journal of Rare Diseases, Vol. 11, Núm. 1
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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
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Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy
European Journal of Human Genetics
2015
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Corrigendum to "A glimpse into past, present, and future DNA sequencing" [Mol. Genet. Metab. 110 (2013) 3-24]
Molecular Genetics and Metabolism
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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
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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
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Vitamin and mineral status in patients with hyperphenylalaninemia
Molecular Genetics and Metabolism, Vol. 115, Núm. 4, pp. 145-150
2014
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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
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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