Ana Marmiesse-Fernandez

Santiago De Compostela, GA, Spain

Last Updated: 09/26/2026

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Found 24 publications

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

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

Journal: Genomics

Published: January 31, 2019

Bethlem myopathy: a series of 16 patients and description of seven new associated mutations.

Bethlem myopathy: a series of 16 patients and description of seven new associated mutations.

Journal: Journal of neurology

Published: December 12, 2018

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

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

Journal: BMC medical genetics

Published: July 20, 2018

Paucisymptomatic hyperCKemia due to a mutation in the ANO5 gene.

Paucisymptomatic hyperCKemia due to a mutation in the ANO5 gene.

Journal: Neurologia

Published: July 12, 2018

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

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

Journal: Mutation research. Reviews in mutation research

Published: April 13, 2018

Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes.

Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes.

Journal: International journal of molecular sciences

Published: April 03, 2018

Carbohydrate status in patients with phenylketonuria.

Carbohydrate status in patients with phenylketonuria.

Journal: Orphanet journal of rare diseases

Published: February 26, 2018

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

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

Journal: Archives of endocrinology and metabolism

Published: May 20, 2017

NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.

NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.

Journal: Current medicinal chemistry

Published: April 29, 2017

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

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

Journal: Journal of human genetics

Published: August 05, 2016

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

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

Journal: Neuromuscular disorders : NMD

Published: June 06, 2016

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

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

Journal: Orphanet journal of rare diseases

Published: May 25, 2016

Showing 1-12 of 24

Last Updated: 09/26/2026