Laura Perez-Blasco

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 11 publications

Type 0 Spinal Muscular Atrophy Detected by Prenatal Exome Sequencing: Towards a Recognizable Fetal Phenotype.

Type 0 Spinal Muscular Atrophy Detected by Prenatal Exome Sequencing: Towards a Recognizable Fetal Phenotype.

Journal: Prenatal diagnosis
Published: October 14, 2025

Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.

Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.

Journal: Genome medicine
Published: September 18, 2024

Onasemnogene-abeparvovec administration to premature infants with spinal muscular atrophy.

Onasemnogene-abeparvovec administration to premature infants with spinal muscular atrophy.

Journal: Annals of clinical and translational neurology
Published: August 05, 2024

Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy.

Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy.

Journal: Neurology. Genetics
Published: February 20, 2024

An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants.

An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants.

Journal: The Journal of molecular diagnostics : JMD
Published: February 08, 2023

Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows.

Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows.

Journal: Genes
Published: September 01, 2022

Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

Journal: International journal of molecular sciences
Published: June 22, 2022

The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy.

The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy.

Journal: International journal of molecular sciences
Published: July 28, 2021

Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.

Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.

Journal: Scientific reports
Published: April 13, 2021

Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.

Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.

Journal: Human mutation
Published: September 04, 2020

Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy.

Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy.

Journal: Neurology. Genetics
Published: June 23, 2020
Showing 1-11 of 11

Last Updated: 09/26/2026