Prof. Nirmala Sirisena
Peer Reviewed Presentations Published as Abstracts
Publication Types:
Pattern of Germline Variants in the BRCA1 and BRCA2 Genes in a Sri Lankan Cohort with Hereditary Breast Cancer:
Peer Reviewed Presentations Published as Abstracts
A Retrospective Audit. 10th Global Breast Cancer Conference held at Seoul, South Korea from 8th - 10th April 2021. Abstracted in the conference proceedings, p.310.
Publication year: 2021
Two Siblings with Autosomal Recessive Primary Microcephaly due to Novel Compound Heterozygous Null Variants in the ASPM Gene.
Peer Reviewed Presentations Published as Abstracts
9th International Conference on Birth Defects and Disabilities in the Developing World “Health for all: Accelerate Efforts for Birth Defects Prevention and Care” held from 23 to 26 February 2020, Colombo, Sri Lanka. (Abstracted in the conference proceedings, p. 170).
Publication year: 2020
Relationship between smart phone usage patterns and subjective musculoskeletal symptoms in the neck and upper extremities in a cohort of Sri Lankan university students
Peer Reviewed Presentations Published as Abstracts
150th Anniversary Colombo Medical Congress 2020, Colombo held from 12th to 15th February 2020. CJMS 2019; 56(II); p. 128-9.
Publication year: 2020
Genetic variants detected by comparative genomic hybridization in a cohort of BRCAX hereditary breast cancer patients in Sri Lanka.
Peer Reviewed - National
Annual Research Symposium, Faculty of Medicine, University of Colombo, 14th Dec. 2020. Abstracted in the conference proceedings, p.30.
Publication year: 2020
Design and Implementation of Novel Pharmacogenomic Assays for CYP2D6*10 and CYP2D6*41 Variants to Predict Response to Tamoxifen Therapy in Breast Cancer Patients.
Peer Reviewed Presentations Published as Abstracts
133rd Anniversary International Medical Congress of the Sri Lanka Medical Association held from 24th - 26th July 2020. Ceylon Medical Journal Volume 64 Supplement 1, July 2020; p.158.
Publication year: 2020
Design and Implementation of Novel Pharmacogenomic Assays for CYP2C19*17 Variant to Predict Response to Clopidogrel Therapy in Patients.
Peer Reviewed Presentations Published as Abstracts
133rd Anniversary International Medical Congress of the Sri Lanka Medical Association held from 24th - 26th July 2020. Ceylon Medical Journal Volume 64 Supplement 1, July 2020; p.78.
Publication year: 2020
Design and implementation of a novel pharmacogenetic assay for the identification of CYP2D6*10 genetic variant in a cohort of oestrogen receptor positive breast cancer patients.
Peer Reviewed - National
Annual Research Symposium, Faculty of Medicine, University of Colombo, 14th Dec. 2020. Abstracted in the conference proceedings, p.69.
Publication year: 2020
Association of long-term meditation with the levels of telomerase enzyme, quality of life and mindfulness level: A pilot study.
Peer Reviewed - National
52nd Asian Pacific Academic Consortium in Public Health 2020, 5th-9th of December 2020. Abstracted in the conference proceedings, p.65-66.
Publication year: 2020
Analysis of large genomic rearrangements in PMS2 and MSH6 genes in a cohort of Sri Lankan patients with hereditary non-polyposis colorectal cancer (HNPCC).
Peer Reviewed Presentations Published as Abstracts
150th Anniversary Colombo Medical Congress 2020, Colombo held from 12th to 15th February 2020. CJMS 2019; 56(II); p. 89.
Publication year: 2020
A germline APOBEC3A/B copy number deletion in a cohort of patients with hereditary breast cancer in Sri Lanka.
Peer Reviewed - National
Sri Lanka College of Oncologists Annual Academic Sessions 2020, Colombo held from 13th-15th November 2020. (Abstracted in the conference proceedings, p.21).
Publication year: 2020
A Case Series of Three Sri Lankan Families with Rare Autosomal Recessive Congenital Neuromuscular Disorders Identified Through Exome Sequencing.
Peer Reviewed Presentations Published as Abstracts
9th International Conference on Birth Defects and Disabilities in the Developing World “Health for all: Accelerate Efforts for Birth Defects Prevention and Care” held from 23 to 26 February 2020, Colombo, Sri Lanka. (Abstracted in the conference proceedings, p. 116).
Publication year: 2020
The effects of meditation on human telomere lengths in healthy individuals: A research protocol for a systematic review.
Peer Reviewed Presentations Published as Abstracts
150th Anniversary Colombo Medical Congress 2020, Colombo held from 12th to 15th February 2020. CJMS 2019; 56(II); p. 85.
Publication year: 2019
PPP1R16B is a Critical Gene in 20q11.2 Microdeletion Syndrome: Loss of Function Variant in PPP1R16B in a Girl with Multiple Congenital Anomalies.
Peer Reviewed Presentations Published as Abstracts
23rd Human Genome Meeting held at Seoul, South Korea from 24th – 26th April 2019. Abstracted in the conference proceedings, p.16.
Publication year: 2019
Pattern of germline variants in the BRCA1 and BRCA2 genes identified using Next-Generation Sequencing-based testing in a Sri Lankan cohort with Inherited Cancer:
Peer Reviewed Presentations Published as Abstracts
A retrospective audit. 3rd International BRCA Forum held at the Grand Hyatt, Singapore from 24th – 25th August 2019.
Publication year: 2019
Pattern of Germline Genetic Variants Identified using Next-Generation Sequencing-based Testing in a Sri Lankan Cohort with Hereditary Breast Cancer.
Peer Reviewed Presentations Published as Abstracts
Global Breast Cancer Conference 2019 held at Songdo ConvensiA, Incheon, South Korea from 25th – 27th April 2019. Abstracted in the conference proceedings, p.191.
Publication year: 2019
Mouse Embryonic Stem Cell-Based Functional Analysis of Five Unclassified BRCA2 Variants Identifies One Deleterious and Four Neutral Variants.
Peer Reviewed Presentations Published as Abstracts
Global Breast Cancer Conference 2019 held at Songdo ConvensiA, Incheon, South Korea from 25th – 27th April 2019. Abstracted in the conference proceedings, p.188.
Publication year: 2019
Molecular screening of MLH1 and MSH2 genes in a cohort of Sri Lankan families with Lynch syndrome.
Peer Reviewed - National
Sri Lanka College of Oncologists Annual Academic Sessions 2019, Colombo held on 15th - 17th Nov. 2019.
Publication year: 2019
High frequency of Klinefelter syndrome in a cohort of Sri Lankan males with azoospermia and oligozoospermia.
Peer Reviewed Presentations Published as Abstracts
14th Annual Academic Sessions of the Sri Lanka Association of Urological Sessions 2019, Colombo held on 29th - 30th Nov., 2019 at the Shangri-La Hotel, Colombo.
Publication year: 2019
High frequency of Klinefelter syndrome in a cohort of Sri Lankan males with azoospermia and oligozoospermia
Peer Reviewed - National
Anatomical Society of Sri Lanka Annual Academic Sessions 2019 held at the Faculty of Medicine, University of Peradeniya on 28th August 2019.
Publication year: 2019
Genetic variants contributing to colorectal cancer in a Sri Lankan cohort.
Peer Reviewed - National
Sri Lanka College of Oncologists Annual Academic Sessions 2019, Colombo held on 15th - 17th Nov. 2019.
Publication year: 2019
Functional Studies Implicate XRCC2:rs3218550C>T as a Putative Functional Genetic Variant for Susceptibility to Sporadic Breast Cancer.
Peer Reviewed Presentations Published as Abstracts
Global Breast Cancer Conference 2019 held at Songdo ConvensiA, Incheon, South Korea from 25th – 27th April 2019. Abstracted in the conference proceedings, p.189.
Publication year: 2019
Frequency of Haemoglobin Beta (HBB) Gene Variations in a Cohort of Sri Lankans referred for Beta-Thalassemia Screening.
Peer Reviewed Presentations Published as Abstracts
Sri Lanka College of Haematologists - Annual Academic Sessions Haem-Icon 2019; September 17-19, 2019 held at the Galadari Hotel, Colombo, Sri Lanka.
Publication year: 2019
Analysis of large genomic rearrangements in BRCA1 and BRCA2 genes in a cohort of Sri Lankan patients with hereditary breast cancer.
Peer Reviewed Presentations Published as Abstracts
132nd Anniversary International Medical Congress held at Galadari Hotel, Colombo, Sri Lanka from 24th – 27th July 2019. Abstracted in the conference proceedings, p. 76.
Publication year: 2019
A Systematic review on the effects of meditation on length of human telomeres in healthy individuals.
Peer Reviewed Presentations Published as Abstracts
2nd South Asia Conference on Multidisciplinary Research, 2019 held in Colombo from 8th-9th Nov., 2019.
Publication year: 2019
A descriptive study of germline genetic variants in cancer predisposing genes in a cohort of patients with hereditary breast and ovarian cancer.
Peer Reviewed - National
Sri Lanka College of Oncologists Annual Academic Sessions 2019, Colombo held on 15th - 17th Nov. 2019.
Publication year: 2019
A descriptive study of germline genetic variants in cancer predisposing genes in a cohort of patients with hereditary breast and ovarian cancer syndrome.
Peer Reviewed Presentations Published as Abstracts
132nd Anniversary International Medical Congress held at Galadari Hotel, Colombo, Sri Lanka from 24th – 27th July 2019. Abstracted in the conference proceedings, p. 19.
Publication year: 2019
Pattern of germline genetic variants in cancer predisposing genes in a Sri Lankan cohort with inherited cancer syndromes.
Peer Reviewed Presentations Published as Abstracts
Human Variome Project 3rd Variant Effect Prediction Training Course, 27th – 30th August 2018, Newcastle University Medicine Malaysia, Johor, Malaysia. Abstracted in the proceedings of the course, p.41.
Publication year: 2018
Frequency of variants in genes associated with diabetic peripheral neuropathy in Sinhalese in Sri Lanka.
Peer Reviewed Presentations Published as Abstracts
Global Meeting on Diabetes and Endocrinology, 23rd – 24th July 2018, Kuala Lumpur, Malaysia. Abstracted in the proceedings of the conference, Endocrine Metabolic Syndrome 2018, Vol. 7, p.32.
Publication year: 2018
The spectrum and frequency of chromosomal translocations in a cohort of Sri Lankan patients.
Peer Reviewed Presentations Published as Abstracts
130th Anniversary International Medical Congress of the Sri Lanka Medical Association. Ceylon Medical Journal, Vol 62 Supplement 1, July 2017; p. 265.
Publication year: 2017
The results of the first 25 clinical exomes tested in the Sri Lankan population.
Peer Reviewed Presentations Published as Abstracts
130th Anniversary International Medical Congress of the Sri Lanka Medical Association. Ceylon Medical Journal, Vol 62 Supplement 1, July 2017; p. 83.
Publication year: 2017