Jonathan Olival

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 10 publications

Genotype-Driven MRI Re-evaluation Reveals Subtle PAFAH1B1-Related Lissencephaly.

Genotype-Driven MRI Re-evaluation Reveals Subtle PAFAH1B1-Related Lissencephaly.

Journal: Journal of child neurology

Published: August 27, 2026

Multi-Omics Integration in Clinical Practice for the Identification of Genetic Variants in Rare Diseases.

Multi-Omics Integration in Clinical Practice for the Identification of Genetic Variants in Rare Diseases.

Journal: Archives of medical research

Published: December 04, 2025

Idiopathic neonatal arterial ischaemic stroke: a trio-based whole-exome sequencing study.

Idiopathic neonatal arterial ischaemic stroke: a trio-based whole-exome sequencing study.

Journal: Archives of disease in childhood. Fetal and neonatal edition

Published: September 26, 2025

ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel.

ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 26, 2025

A Further Case Supporting CCNK as a Neurodevelopmental Disease Gene.

A Further Case Supporting CCNK as a Neurodevelopmental Disease Gene.

Journal: Clinical genetics

Published: September 14, 2025

Diagnostic value of genetic testing, with focus on CACNA1A, in children with episodic neurologic disorders: a single-centre retrospective study.

Diagnostic value of genetic testing, with focus on CACNA1A, in children with episodic neurologic disorders: a single-centre retrospective study.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: August 29, 2025

Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.

Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.

Journal: International journal of molecular sciences

Published: August 27, 2025

X-linked dominant chondrodysplasia punctata (CDPX2): A rare case of male mosaicism with atypical dermatological manifestations.

X-linked dominant chondrodysplasia punctata (CDPX2): A rare case of male mosaicism with atypical dermatological manifestations.

Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

Published: September 23, 2024

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.

Journal: Pediatric neurology

Published: December 20, 2023

Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants.

Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants.

Journal: Annals of clinical and translational neurology

Published: November 17, 2022

Showing 1-10 of 10

Last Updated: 09/26/2026