Fabio Sirchia

Pavia, Italy

Last Updated: 09/26/2026

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Found 70 publications

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

Journal: Clinical genetics

Published: June 05, 2026

Expanding the spectrum of Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) syndrome: a case report with new clinical insights and novel genetic variant.

Expanding the spectrum of Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) syndrome: a case report with new clinical insights and novel genetic variant.

Journal: Frontiers in immunology

Published: May 08, 2026

Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy.

Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy.

Journal: bioRxiv : the preprint server for biology

Published: March 27, 2026

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

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.

Journal: Breast (Edinburgh, Scotland)

Published: September 15, 2025

Bridging Genotype to Phenotype in KMT5B-Related Syndrome: Evidence from RNA-Seq, 18FDG-PET, Clinical Deep Phenotyping in Two New Cases, and a Literature Review.

Bridging Genotype to Phenotype in KMT5B-Related Syndrome: Evidence from RNA-Seq, 18FDG-PET, Clinical Deep Phenotyping in Two New Cases, and a Literature Review.

Journal: Genes

Published: August 21, 2025

Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome.

Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome.

Journal: Genes

Published: August 05, 2025

Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency.

Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency.

Journal: Genes

Published: June 03, 2025

Pulmonary Arterial Hypertension Onset in an Adult Woman With a TBX4 Likely Pathogenic Variant Following Imatinib Administration: A Case Report.

Pulmonary Arterial Hypertension Onset in an Adult Woman With a TBX4 Likely Pathogenic Variant Following Imatinib Administration: A Case Report.

Journal: American journal of medical genetics. Part A

Published: April 29, 2025

A Novel Pathogenic Variant in CRB1 as the Cause of Non-Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy.

A Novel Pathogenic Variant in CRB1 as the Cause of Non-Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy.

Journal: American journal of medical genetics. Part A

Published: February 20, 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

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.

Journal: HGG advances

Published: January 14, 2025

Showing 1-12 of 70

Last Updated: 09/26/2026