Marta Sola-Codina

Barcelona Biomedical Research Park
Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 41 publications

Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.

Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 06, 2025

Response to Saleem et al.

Response to Saleem et al.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 03, 2025

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

Placental insufficiency markers to assess the risk of non-chromosomal genetic conditions in early-onset fetal growth restriction.

Placental insufficiency markers to assess the risk of non-chromosomal genetic conditions in early-onset fetal growth restriction.

Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Published: October 06, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 01, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 01, 2025

Expanding the clinical phenotype and understanding the biochemical consequences of Muscle Glycogen Synthase Deficiency (GSD0B).

Expanding the clinical phenotype and understanding the biochemical consequences of Muscle Glycogen Synthase Deficiency (GSD0B).

Journal: Molecular genetics and metabolism
Published: November 25, 2024

Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

Journal: Clinical genetics
Published: October 02, 2024

Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy.

Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy.

Journal: medRxiv : the preprint server for health sciences
Published: September 16, 2024

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.

Journal: Nature genetics
Published: September 13, 2024

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Journal: European journal of human genetics : EJHG
Published: July 26, 2024

Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.

Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 22, 2024
Showing 1-12 of 41

Last Updated: 09/26/2026