Francesca Forzano

Guys And St Thomas' NHS Foundation Trust And Faculty Of Life Sciences
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 74 publications

Rare disease genomics and justice: overview of a workshop at the Fondation Brocher, 22-24 January 2025.

Rare disease genomics and justice: overview of a workshop at the Fondation Brocher, 22-24 January 2025.

Journal: Journal of community genetics

Published: May 23, 2026

Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling.

Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling.

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

Published: March 03, 2026

Cascade counselling and testing. Recommendations of the European Society of Human Genetics.

Cascade counselling and testing. Recommendations of the European Society of Human Genetics.

Journal: European journal of human genetics : EJHG

Published: June 26, 2025

Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications.

Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications.

Journal: Genome medicine

Published: March 01, 2025

Modelling Population Genetic Screening in Rare Neurodegenerative Diseases.

Modelling Population Genetic Screening in Rare Neurodegenerative Diseases.

Journal: Biomedicines

Published: February 25, 2025

Inferring disease course from differential exon usage in the wide titinopathy spectrum.

Inferring disease course from differential exon usage in the wide titinopathy spectrum.

Journal: Annals of clinical and translational neurology

Published: July 23, 2024

Advances and Challenges in Prenatal Detection and Genetic Diagnosis of Upper Limb Anomalies: Analysis of a South London and Kent Cohort.

Advances and Challenges in Prenatal Detection and Genetic Diagnosis of Upper Limb Anomalies: Analysis of a South London and Kent Cohort.

Journal: Prenatal diagnosis

Published: June 14, 2024

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Journal: American journal of human genetics

Published: April 01, 2024

Prediction of venous thromboembolism in average-risk, young candidates for oral contraceptive use: to genotype, or not to genotype, that is the question.

Prediction of venous thromboembolism in average-risk, young candidates for oral contraceptive use: to genotype, or not to genotype, that is the question.

Journal: American journal of obstetrics and gynecology

Published: February 14, 2024

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Journal: Genetics in medicine open

Published: November 14, 2023

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.

Journal: American journal of human genetics

Published: November 12, 2023

A genomic perspective on climate change.

A genomic perspective on climate change.

Journal: EBioMedicine

Published: October 24, 2023

Showing 1-12 of 74

Last Updated: 09/26/2026