Luis A. Jurado-Perez

72 King William Road
North Adelaide, SA 5006, Australia

Last Updated: 09/26/2026

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Found 125 publications

Analysis Methods for Diagnosing Rare Neurodevelopmental Diseases with Episignatures: A Systematic Review of the Literature.

Analysis Methods for Diagnosing Rare Neurodevelopmental Diseases with Episignatures: A Systematic Review of the Literature.

Journal: Biomedicines

Published: October 26, 2025

Growth Hormone Therapy in 5q35 Duplication Syndrome: Evidence From a Long-Term Follow-Up.

Growth Hormone Therapy in 5q35 Duplication Syndrome: Evidence From a Long-Term Follow-Up.

Journal: Clinical endocrinology

Published: September 12, 2025

UPDhmm: detecting uniparental disomy from NGS trio data.

UPDhmm: detecting uniparental disomy from NGS trio data.

Journal: Bioinformatics (Oxford, England)

Published: August 27, 2025

Diagnostic yield of chromosomal microarray and virtual targeted gene panel analysis in adults with focal epilepsy: implications for sequential genetic testing strategy.

Diagnostic yield of chromosomal microarray and virtual targeted gene panel analysis in adults with focal epilepsy: implications for sequential genetic testing strategy.

Journal: Seizure

Published: August 12, 2025

Early-onset extensive seborrhoeic keratoses in the spectrum of familial acanthosis nigricans.

Early-onset extensive seborrhoeic keratoses in the spectrum of familial acanthosis nigricans.

Journal: Clinical and experimental dermatology

Published: March 30, 2025

Neonatal CARD14-Associated Papulosquamous Eruption: Response to Secukinumab During Infancy.

Neonatal CARD14-Associated Papulosquamous Eruption: Response to Secukinumab During Infancy.

Journal: Pediatric dermatology

Published: January 11, 2025

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

Palmoplantar keratoderma, knuckle pads, and syndactyly associated with a new missense variant in the SLURP1 gene.

Palmoplantar keratoderma, knuckle pads, and syndactyly associated with a new missense variant in the SLURP1 gene.

Journal: International journal of dermatology

Published: August 24, 2024

A Humanized Yeast Model for Studying TRAPP Complex Mutations; Proof-of-Concept Using Variants from an Individual with a TRAPPC1-Associated Neurodevelopmental Syndrome.

A Humanized Yeast Model for Studying TRAPP Complex Mutations; Proof-of-Concept Using Variants from an Individual with a TRAPPC1-Associated Neurodevelopmental Syndrome.

Journal: Cells

Published: August 04, 2024

Defective X-chromosome inactivation and cancer risk in women.

Defective X-chromosome inactivation and cancer risk in women.

Journal: Communications biology

Published: July 30, 2024

An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.

An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.

Journal: Frontiers in genetics

Published: July 29, 2024

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

Journal: The Journal of clinical investigation

Published: April 26, 2024

Showing 1-12 of 125

Last Updated: 09/26/2026