Publications

The effects of meditation on length of telomeres in healthy individuals : a systematic review.

Publications in Peer Reviewed Indexed Journals

Dasanayaka, N. N., Sirisena, N. D., & Samaranayake, N.

BMC Systematic Reviews, May 2021;10(151):1–6. https://doi.org/10.1186/s13643-021-01699-1

Publication year: 2021

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

Nirmala D. Sirisena, Sajeewani Pathirana, Nilaksha Neththikumara, Prabhavi Wijesiriwardhana, Kalum Wetthasinghe and Vajira H. W. Dissanayake.

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

Frontometaphyseal dysplasia 1 in a patient from Sri Lanka.

Publications in Peer Reviewed Indexed Journals

Dissanayake R, Senanayake MP, Fernando J, Robertson SP, Dissanayake VHW, Sirisena ND.

Am J Med Genet Part A. 2021 Apr;185(4):1317-1320. https://doi.org/10.1002/ajmg.a.62058

Publication year: 2021

A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report.

Publications in Peer Reviewed Indexed Journals

Sirisena, N.D., Samaranayake, U.M.J.E., Neto, O.L.A. et al.

BMC Neurol Mar 2021;21:105. https://doi.org/10.1186/s12883-021-02134-7

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

Sirisena N.D., Udagedara Samaranayake M.J.E., Paththinige C.S., Hughes J., Kruszka P., Muenke M., and Dissanayake V.H.W.

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

Strategies for Genomic Medicine Education in Low- and Middle-Income Countries. In: Educating Health Professionals in Genomic Medicine: Evidence-Based Strategies and Approaches - Metcalfe, S. A., Gaff, C., Dougherty, M., eds. (2020). Educating Health Professionals in Genomic Medicine: Evidence-Based Strategies and Approaches.

Book Chapters

Nirmala D. Sirisena and Vajira H. W. Dissanayake.

Lausanne: Frontiers Media SA. doi: 10.3389/978-2-88966-059-9, p.20-23.

Publication year: 2020

Rubinstein–Taybi syndrome in diverse populations

Publications in Peer Reviewed Indexed Journals

Cedrik Tekendo‐Ngongang, Babajide Owosela, Nicole Fleischer, Yonit A. Addissie, Bryan Malonga, Ebenezer Badoe, Neerja Gupta, Angélica Moresco, Victoria Huckstadt, Engy A. Ashaat, Dalia Farouk Hussen, Ho‐Ming Luk, Ivan F. M. Lo, Brian Hon‐Yin Chung, Jasmine L. F., Fung Danilo, Moretti‐Ferreira, Letícia Cassimiro Batista, Stephanie Lotz‐Esquivel, Manuel Saborio‐Rocafort, Ramses Badilla‐Porras, Monica Penon Portmann, Kelly L. Jones, Omar A. Abdul‐Rahman, Annette Uwineza, Eloise J. Prijoles, Ifeanyi Kanayo Ifeorah, Arianne Llamos Paneque, Nirmala D. Sirisena, Leah Dowsett, Sansan Lee, Gerarda Cappuccio, Carolyn Sian Kitchin, Alicia Diaz‐Kuan, Meow‐Keong Thong, María Gabriela Obregon, Leon Mutesa, Vajira H. W. Dissanayake, Mona O. El Ruby, Nicola Brunetti‐Pierri, Ekanem Nsikak Ekure, Roger E. Stevenson, Maximilian Muenke, Paul Kruszka.

Am J Med Genet. Dec 2020;182(12):2939-2950. https://doi.org/10.1002/ajmg.a.61888

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

P.A.S. Jayatissa, N.D. Sirisena.

150th Anniversary Colombo Medical Congress 2020, Colombo held from 12th to 15th February 2020. CJMS 2019; 56(II); p. 128-9.

Publication year: 2020

Picture Study Guide to Embryological Specimens. 1st Edition.

Books Edited

Nirmala D. Sirisena

Publication year: 2020

Hypokalaemic Paralysis - A double trouble from concurrent Thyrotoxicosis and Gitelman syndrome: A report of two cases.

Publications in Peer Reviewed Indexed Journals

Subasinghe, C.J., Gunatilake, S.S.C., Sirisena, N.D., Berge, K.E., Leren, T.P., Bulugahapitiya, U. and Dissanayake, V.H.W.,

Sri Lanka Journal of Diabetes Endocrinology and Metabolism, 10(1), pp.26–29. DOI: http://doi.org/10.4038/sjdem.v10i1.7409

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

P. Wijesiriwardhana, U. N. D. Sirisena, T. K. Wettasinghe, V. H. W. Dissanayake.

Annual Research Symposium, Faculty of Medicine, University of Colombo, 14th Dec. 2020. Abstracted in the conference proceedings, p.30.

Publication year: 2020

Functional evaluation of five BRCA2 unclassified variants identified in a Sri Lankan cohort with inherited cancer syndromes using a mouse embryonic stem cell-based assay.

Publications in Peer Reviewed Indexed Journals

Nirmala Sirisena, Kajal Biswas, Teresa Sullivan, Stacey Stauffer, Linda Cleveland, Eileen Southon, Vajira H. W. Dissanayake and Shyam K. Sharan.

Breast Cancer Research (2020) 22:43. https://doi.org/10.1186/s13058-020-01272-z

Publication year: 2020

Design and Implementation of Novel Pharmacogenomic Assays for CYP2D610 and CYP2D641 Variants to Predict Response to Tamoxifen Therapy in Breast Cancer Patients.

Peer Reviewed Presentations Published as Abstracts

Ranadeva NDK, Noordeen N, Wetthasinghe TK, Sirisena ND, Dissanayake VHW

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

Thillainathan K, Noordeen N, Wetthasinghe TK, Sirisena ND, Dissanayake VHW.

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

N. D. K. Ranadeva, N. D. Sirisena, T. K. Wetthasinghe, N. Noordeen, V. H. W. Dissanayake.

Annual Research Symposium, Faculty of Medicine, University of Colombo, 14th Dec. 2020. Abstracted in the conference proceedings, p.69.

Publication year: 2020

Department of Anatomy - Histories and Stories from Departments. In: The Colombo Medical School at 150 - Celebrating our heritage - P. Galappatthy, E. Corea, D. Fernando, C.K. Liyanage (Ed.)

Book Chapters

Nirmala D. Sirisena, M.M. Dissanayake, A.P. Malalasekera, Vajira H.W. Dissanayake.

Colombo Medical Faculty Publishers, (Col), Feb 2020; p. 55-59.

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

H.M.N.N. Dasanayaka, N.D. Sirisena, T.N. Samaranayak.

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

P. Wijesiriwardhana, N.F. Neththikumara, B.A.P.S. Pathirana, U.N.D. Sirisena, T.K. Wettasinghe, V.H.W. Dissanayake.

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

Wijesiriwardhana P, Pathirana BAPS, Sirisena UND, Wettasinghe TK, Dissanayake VHW.

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

Sirisena N., Samaranayake U., Paththinige S., Rathnayake P., Donkervoort S., Mendoza C., Foley R., Bonnemann C., and Dissanayake V.

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

Turner syndrome in diverse populations.

Publications in Peer Reviewed Indexed Journals

Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N, Sirisena ND, Dissanayake VHW, Paththinige CS, Aravena T, Nampoothiri S, Yesodharan D, Girisha KM, Patil SJ, Jamuar SS, Goh JC, Utari A, Sihombing N, Mishra R, Chitrakar NS, Iriele BC, Lulseged E, Megarbane A, Uwineza A, Oyenusi EE, Olopade OB, Fasanmade OA, Duenas-Roque MM, Thong MK, Tung JYL, Mok GTK, Fleischer N, Rwegerera GM, de Herreros MB, Watts J, Fieggen K, Huckstadt V, Moresco A, Obregon MG, Hussen DF, Ashaat NA, Ashaat EA, Chung BHY, Badoe E, Faradz SMH, El Ruby MO, Shotelersuk V, Wonkam A, Ekure EN, Phadke SR, Richieri-Costa A, Muenke M.

Am J Med Genet A. 2019 Dec 19. doi: 10.1002/ajmg.a.61461

Publication year: 2019

The frequency and spectrum of chromosomal translocations in a cohort of Sri Lankans. BioMed Research International.

Publications in Peer Reviewed Indexed Journals

Chamara S. Paththinige, Nirmala D. Sirisena, U. G. I. U. Kariyawasam, and Vajira H. W. Dissanayake.

Volume 2019, Article ID 9797104, 11 pages. https://doi.org/10.1155/2019/9797104

Publication year: 2019

The effects of meditation on human telomere lengths in healthy individuals: A research protocol for a systematic review.

Peer Reviewed Presentations Published as Abstracts

H.M.N.N. Dasanayaka, N.D. Sirisena, T.N. Samaranayake.

150th Anniversary Colombo Medical Congress 2020, Colombo held from 12th to 15th February 2020. CJMS 2019; 56(II); p. 85.

Publication year: 2019

Strategies for Genomic Medicine Education in Low- and Middle-Income Countries.

Publications in Peer Reviewed Indexed Journals

Nirmala D. Sirisena and Vajira H. W. Dissanayake.

Front. Genet., 08 October 2019 https://doi.org/10.3389/fgene.2019.00944

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

Nirmala Sirisena, Paul Kruszka, Maximilian Muenke and Vajira H.W. Dissanayake.

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

Nirmala D. Sirisena, Nilaksha Neththikumara, Sajeewani Pathirana, Wijesiriwardhana P, Kalum Wetthasinghe and Vajira H. W. Dissanayake.

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

Nirmala D. Sirisena, Nilaksha Neththikumara, Sajeewani Pathirana, Kalum Wetthasinghe and Vajira H. W. Dissanayake.

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

Nirmala Sirisena, Kajal Biswas, Stacey Stauffer, Linda Cleveland, Teresa Sullivan, Shyam Sharan and Vajira H. W. Dissanayake.

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

Prabhavi Wijesiriwardhana, Nilaksha Neththikumara, Sajeewani Pathirana, Nirmala D. Sirisena, T. Kalum Wetthasinghe, Vajira H.W. Dissanayake.

Sri Lanka College of Oncologists Annual Academic Sessions 2019, Colombo held on 15th - 17th Nov. 2019.

Publication year: 2019

Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature.

Publications in Peer Reviewed Indexed Journals

Anne D. D. Joseph, Nirmala D. Sirisena, Thirunavukarasu Kumanan, Vathualan Sujanitha, Veronika Strelow, Raina Yamamoto, Stefan Wieczorek and Vajira H. W. Dissanayake.

BMC Endocr Disord 19:111 (2019) doi:10.1186/s12902-019-0438-4

Publication year: 2019

Prof. Nirmala Sirisena

Filter by type: