Sulekha Rajagopalan

Sydney, NSW, Australia

Last Updated: 09/26/2026

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Found 23 publications

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.

Journal: medRxiv : the preprint server for health sciences
Published: June 26, 2025

Longitudinal study in autosomal recessive PROM1 inherited retinal disease.

Longitudinal study in autosomal recessive PROM1 inherited retinal disease.

Journal: Ophthalmic genetics
Published: June 10, 2025

BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.

BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.

Journal: American journal of human genetics
Published: May 15, 2025

The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death.

The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death.

Journal: NPJ genomic medicine
Published: May 11, 2023

A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy.

A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy.

Journal: Documenta ophthalmologica. Advances in ophthalmology
Published: February 26, 2023

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Journal: Molecular psychiatry
Published: April 05, 2022

The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.

The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.

Journal: American journal of medical genetics. Part A
Published: February 20, 2022

Expanding the phenotype of Bruck syndrome: Severe limb deformity, arthrogryposis, congenital cardiac disease and pulmonary hemorrhage.

Expanding the phenotype of Bruck syndrome: Severe limb deformity, arthrogryposis, congenital cardiac disease and pulmonary hemorrhage.

Journal: American journal of medical genetics. Part A
Published: February 02, 2022

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.

Journal: European journal of human genetics : EJHG
Published: October 08, 2021

MERTK retinopathy: biomarkers assessing vision loss.

MERTK retinopathy: biomarkers assessing vision loss.

Journal: Ophthalmic genetics
Published: July 22, 2021

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 24, 2021

Genetic architecture of left ventricular noncompaction in adults.

Genetic architecture of left ventricular noncompaction in adults.

Journal: Human genome variation
Published: June 03, 2020
Showing 1-12 of 23

Last Updated: 09/26/2026