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

Autor: Roca, Iria, González-Castro, Lorena, Maynou, Joan, Palacios, Lourdes, Fernández, Helena, Couce, Mª Luz, Fernández-Marmiesse, Ana

Publikováno v: In Genomics March 2020 112(2):1245-1256

A novel missense mutation in GRIN2A causes a non-epileptic neurodevelopmental disorder

Autor: Fernández-Marmiesse, Ana, Kusumoto, Hirofumi, Rekarte, Saray, Roca, Iria, Zhang, Jin, Myers, Scott J., Traynelis, Stephen F., Couce, Ma Luz, Gutierrez-Solana, Luis, Yuan, Hongjie

Mutations in the GRIN2A gene, which encodes the GluN2A (glutamate [NMDA] receptor subunit epsilon-1) subunit of the N-methyl-d-aspartate receptor, have been identified in patients with epilepsy-aphasia spectrum disorders, idiopathic focal epilepsies

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d5a1d25dd5a868d1f14da85a202cec69
https://europepmc.org/articles/PMC6105539/

Utility of genetic panels based on ngs in the diagnosis of childhood epilepsies

Autor: Gouveia, Sofia, Fernández-Marmiesse, Ana, Otero, Iria, Cocho, Juan, Castiñeiras, Daisy, Fraga, José, Couce, Mª Luz

Publikováno v: Nascer e Crescer, Volume: 24 Supplement 1, Pages: 15-15, Published: 20 FEB 2015

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______616::4c0207af0b2c53df14e23d58c3a1abb0
http://www.scielo.mec.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100013&lng=en&tlng=en

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

Autor: Fernández‐Marmiesse, Ana, Kusumoto, Hirofumi, Rekarte, Saray, Roca, Iria, Zhang, Jin, Myers, Scott J., Traynelis, Stephen F., Couce, Mª Luz, Gutierrez‐Solana, Luis, Yuan, Hongjie, Fernández-Marmiesse, Ana, Gutierrez-Solana, Luis

Publikováno v: Movement Disorders; Jul2018, Vol. 33 Issue 6, p992-999, 8p

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

Autor: Fernández-Marmiesse A; Unit for the Diagnosis and Treatment of Congenital Metabolic Diseases, Clinical University Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela, Santiago de Compostela, Spain.; Genomes & Disease Group, Molecular Medicine and Chronic Diseases Research Centre (CiMUS), Santiago de Compostela University-IDIS, Santiago de Compostela, Spain., Roca I; Unit for the Diagnosis and Treatment of Congenital Metabolic Diseases, Clinical University Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela, Santiago de Compostela, Spain.; Genomes & Disease Group, Molecular Medicine and Chronic Diseases Research Centre (CiMUS), Santiago de Compostela University-IDIS, Santiago de Compostela, Spain., Díaz-Flores F; Molecular Genetics Unit, Clinical University Hospital of Canarias, Santa Cruz de Tenerife, Spain., Cantarín V; Neuropediatrics Unit, Niño Jesús Clinical University Hospital, Madrid, Spain., Pérez-Poyato MS; Neuropediatrics Unit, Marqués de Valdecilla Clinical University Hospital, Santander, Spain., Fontalba A; Genetics Unit, Marqués de Valdecilla Clinical University Hospital, Santander, Spain., Laranjeira F; Centro de Genética Médica Jacinto Magalhães, Centro Hospitalar Do Porto, Porto, Portugal., Quintans S; Neuropediatrics Unit, Santa María Hospital, Lisbon, Portugal., Moldovan O; Genetics Unit, Santa María Hospital, Lisbon, Portugal., Felgueroso B; Neuropediatrics Unit, Teresa Herrera Child's Hospital, A Coruña, Spain., Rodríguez-Pedreira M; Clinical Genetics Unit, Teresa Herrera Child's Hospital, A Coruña, Spain., Simón R; Neuropediatrics Unit, 12 de Octubre Clinical University Hospital, Madrid, Spain., Camacho A; Neuropediatrics Unit, 12 de Octubre Clinical University Hospital, Madrid, Spain.; Department of Medicine, Complutense University of Madrid, Madrid, Spain., Quijada P; Metabolic Disorders Unit, 12 de Octubre Clinical University Hospital, Madrid, Spain., Ibanez-Mico S; Neuropediatrics Unit, Virgen de la Arrixaca Clinical University Hospital, Murcia, Spain., Domingno MR; Neuropediatrics Unit, Virgen de la Arrixaca Clinical University Hospital, Murcia, Spain., Benito C; Genetics Unit, Clinical University Hospital of Málaga, Málaga, Spain., Calvo R; Neuropediatrics Unit, Clinical University Hospital of Málaga, Málaga, Spain., Pérez-Cejas A; Molecular Genetics Unit, Clinical University Hospital of Canarias, Santa Cruz de Tenerife, Spain., Carrasco ML; Neuropediatrics Unit, Clinical University Hospital Severo Ochoa, Leganés, Madrid, Spain., Ramos F; Clinical Genetics Unit, Pediatrics, Clinical University Hospital of Zaragoza, Zaragoza, Spain., Couce ML; Unit for the Diagnosis and Treatment of Congenital Metabolic Diseases, Clinical University Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela, Santiago de Compostela, Spain., Ruiz-Falcó ML; Neuropediatrics Unit, Niño Jesús Clinical University Hospital, Madrid, Spain., Gutierrez-Solana L; Neuropediatrics Unit, Niño Jesús Clinical University Hospital, Madrid, Spain., Martínez-Atienza M; Genomes & Disease Group, Molecular Medicine and Chronic Diseases Research Centre (CiMUS), Santiago de Compostela University-IDIS, Santiago de Compostela, Spain.; Molecular Genetics Unit, Clinical University Hospital of Canarias, Santa Cruz de Tenerife, Spain.; Molecular Genetics Unit, Virgen de las Nieves Clinical University Hospital, Granada, Spain.

Publikováno v: Frontiers in neuroscience [Front Neurosci] 2019 Nov 08; Vol. 13, pp. 1135. Date of Electronic Publication: 2019 Nov 08 (Print Publication: 2019).