Nayana Lahiri

St George's University Of London
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 39 publications

Multimodal genotype-phenotype analysis in SMARCB1-associated developmental disorders.

Multimodal genotype-phenotype analysis in SMARCB1-associated developmental disorders.

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

Published: October 22, 2025

Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental Disorders.

Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental Disorders.

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

Published: October 22, 2025

Spectrum of Congenital Anomalies in Myhre Syndrome-Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4.

Spectrum of Congenital Anomalies in Myhre Syndrome-Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: July 11, 2025

KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.

KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.

Journal: Human molecular genetics

Published: April 08, 2025

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.

Journal: European journal of human genetics : EJHG

Published: April 02, 2025

Predictive testing for Huntington's disease in a digital age; patient power with potential pitfalls.

Predictive testing for Huntington's disease in a digital age; patient power with potential pitfalls.

Journal: European journal of human genetics : EJHG

Published: December 14, 2024

Perils of predictive testing for unaffected people from motor neuron disease families with no identified causal gene.

Perils of predictive testing for unaffected people from motor neuron disease families with no identified causal gene.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: December 09, 2024

Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.

Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.

Journal: Genome medicine

Published: November 21, 2024

Genetic testing in dementia.

Genetic testing in dementia.

Journal: Practical neurology

Published: August 28, 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

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.

Journal: medRxiv : the preprint server for health sciences

Published: September 25, 2023

Showing 1-12 of 39

Last Updated: 09/26/2026