Deepthi C. De Silva
Kelaniya, Sri Lanka
Last Updated: 09/26/2026
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Found 23 publications
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
Expanding the phenotype associated with biallelic SCNM1 variants.
Journal: Human genomics
Published: July 24, 2025
Development of a TaqMan-based dosage analysis PCR assay for the molecular diagnosis of 22q11.2 deletion syndrome.
Journal: Genes & genetic systems
Published: January 22, 2025
Exploring the impact of occupational exposure: A study on cardiovascular autonomic functions of male gas station attendants in Sri Lanka.
Journal: Physiological reports
Published: May 09, 2024
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.
Journal: Annals of neurology
Published: August 24, 2023
Retinoblastoma patients treated in Sri Lanka from 2014 to 2020: epidemiology, clinical status and correlates of lag time in seeking tertiary care services.
Journal: BMC ophthalmology
Published: August 22, 2023
RB1 screening of retinoblastoma patients in Sri Lanka using targeted next generation sequencing (NGS) and gene ratio analysis copy enumeration PCR (GRACE-PCR).
Journal: BMC medical genomics
Published: May 16, 2023
Genome sequencing in families with congenital limb malformations.
Journal: Human genetics
Published: March 18, 2021
Characteristic dental pattern with hypodontia and short roots in Fraser syndrome.
Journal: American journal of medical genetics. Part A
Published: March 04, 2020
Biallelic variants in DNA2 cause microcephalic primordial dwarfism.
Journal: Human mutation
Published: December 03, 2018
Correction: Arterial tortuosity syndrome: 40 new families and literature review.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 12, 2018
Last Updated: 09/26/2026