Publications by authors named "Iria Roca"

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Free-access copy-number variant detection tools for targeted next-generation sequencing data.
Iria Roca, Lorena González-Castro, Helena Fernández, Mª Luz Couce, Ana Fernández-Marmiesse

Mutat Res Rev Mutat Res· March 2020

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PattRec: An easy-to-use CNV detection tool optimized for targeted NGS assays with diagnostic purposes.
Iria Roca, Lorena González-Castro, Joan Maynou, Lourdes Palacios, Helena Fernández

Genomics· March 2020

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Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Ana Fernández-Marmiesse, Iria Roca, Felícitas Díaz-Flores, Verónica Cantarín, Mª Socorro Pérez-Poyato

Front Neurosci· November 2019

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Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.
María Luz Couce, Paula Sánchez-Pintos, Luís Aldámiz-Echevarría, Isidro Vitoria, Victor Navas, Iria Roca

Medicine (Baltimore)· September 2019

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Retrospective study to identify risk factors for chronic kidney disease in children with congenital solitary functioning kidney detected by neonatal renal ultrasound screening.
Adela Urisarri, Marta Gil, Natalia Mandiá, Luís Aldamiz-Echevarría, Roca Iria

Medicine (Baltimore)· August 2018

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A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder.
Ana Fernández-Marmiesse, Hirofumi Kusumoto, Saray Rekarte, Iria Roca, Jin Zhang

Mov Disord· July 2018

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Carbohydrate status in patients with phenylketonuria.
María L Couce, Paula Sánchez-Pintos, Isidro Vitoria, María-José De Castro, Luís Aldámiz-Echevarría, Iria Roca

Orphanet J Rare Dis· June 2018

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Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes.
Iria Roca, Ana Fernández-Marmiesse, Sofía Gouveia, Marta Segovia, María L Couce

Int J Mol Sci· May 2018

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Arterial stiffness assessment in patients with phenylketonuria.
Alvaro Hermida-Ameijeiras, Vanesa Crujeiras, Iria Roca, Carlos Calvo, Rosaura Leis

Medicine (Baltimore)· December 2017

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Similarities between acylcarnitine profiles in large for gestational age newborns and obesity.
Paula Sánchez-Pintos, Maria-Jose de Castro, Iria Roca, Segundo Rite, Miguel López

Sci Rep· November 2017

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Lipid profile status and other related factors in patients with Hyperphenylalaninaemia.
María L Couce, Isidro Vitoria, Luís Aldámiz-Echevarría, Ana Fernández-Marmiesse, Iria Roca

Orphanet J Rare Dis· September 2016

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Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.
Sonia Emperador, M Pilar Bayona-Bafaluy, Ana Fernández-Marmiesse, Mercedes Pineda, Blanca Felgueroso, Iria Roca

Eur J Hum Genet· January 2016

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Micronutrient in hyperphenylalaninemia.
Vanesa Crujeiras, Luís Aldámiz-Echevarría, Jaume Dalmau, Isidro Vitoria, Fernando Andrade, Iria Roca

Data Brief· September 2015

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Vitamin and mineral status in patients with hyperphenylalaninemia.
Vanesa Crujeiras, Luis Aldámiz-Echevarría, Jaime Dalmau, Isidro Vitoria, Fernando Andrade, Iria Roca

Mol Genet Metab· August 2015

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