Elisa Giorgio

Pavia, 27100, Italy

Last Updated: 09/26/2026

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Found 84 publications

Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability.

Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability.

Journal: medRxiv : the preprint server for health sciences

Published: November 24, 2025

The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.

The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.

Journal: Human genetics

Published: November 21, 2025

Expanding the Phenotype of TAB2-Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development.

Expanding the Phenotype of TAB2-Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development.

Journal: American journal of medical genetics. Part A

Published: November 14, 2025

Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.

Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.

Journal: Pediatric neurology

Published: February 15, 2025

Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of LMNB1-Related Autosomal Dominant Leukodystrophy.

Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of LMNB1-Related Autosomal Dominant Leukodystrophy.

Journal: Neurology. Genetics

Published: November 13, 2024

Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy.

Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy.

Journal: American journal of medical genetics. Part A

Published: September 04, 2024

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.

Journal: American journal of human genetics

Published: August 27, 2024

Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.

Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.

Journal: Alzheimer's research & therapy

Published: July 10, 2024

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.

Journal: European journal of human genetics : EJHG

Published: May 27, 2024

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.

Journal: HGG advances

Published: December 06, 2023

Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.

Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.

Journal: Journal of clinical immunology

Published: December 06, 2023

The impact of clinical genome sequencing in a global population with suspected rare genetic disease.

The impact of clinical genome sequencing in a global population with suspected rare genetic disease.

Journal: American journal of human genetics

Published: November 27, 2023

Showing 1-12 of 84

Last Updated: 09/26/2026