Publications

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High frequency of Klinefelter syndrome in a cohort of Sri Lankan males with non-obstructive azoospermia and oligozoospermia.

Publications in Peer Reviewed Indexed Journals
Sirisena, N.D., Samaranayake, U.M.J.E., Malalasekera, A.P. and Dissanayake, V.H.W.
Sri Lanka Journal of Surgery, 2019;37(4), pp.11–13. http://doi.org/10.4038/sljs.v37i4.8641
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
Nirmala D. Sirisena, Jayami Samaranayake, Ajith P. Malalasekera, Vajira H.W. Dissanayake.
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
Samaranayake UMJE, Sirisena ND, Malalasekera AP, Dissanayake VHW.
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

Genotype data for single nucleotide polymorphism markers in sporadic breast cancer related genes in a Sri Lankan case-control cohort of postmenopausal women.

Publications in Peer Reviewed Indexed Journals
Nirmala D. Sirisena, Nilakshi Samaranayake and Vajira H. W. Dissanayake.
BMC Research Notes (2019) 12:435 https://doi.org/10.1186/s13104-019-4472-0
Publication year: 2019

Genetics and genomic medicine in Sri Lanka. Molecular Genetics & Genomic Medicine

Publications in Peer Reviewed Indexed Journals
Nirmala D. Sirisena and Vajira H.W. Dissanayake
2019;00:e744. https://doi.org/10.1002/mgg3.744
Publication year: 2019

Genetic variants contributing to colorectal cancer in a Sri Lankan cohort.

Peer Reviewed - National
Sajeewani Pathirana, Nilaksha Neththikumara, 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

Functional Studies Implicate XRCC2:rs3218550C>T as a Putative Functional Genetic Variant for Susceptibility to Sporadic Breast Cancer.

Peer Reviewed Presentations Published as Abstracts
Nirmala Sirisena, Nilakshi Samaranayake 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.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
Y. Mathangasinghe, P.B. Jeerasinghe. N.D. Sirisena, H.W.W. Goonasekera, V.H.W. Dissanayake.
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

Electrophoretic mobility shift assays implicate XRCC2:rs3218550C>T as a potential low-penetrant susceptibility allele for sporadic breast cancer.

Publications in Peer Reviewed Indexed Journals
Nirmala D. Sirisena, Nilakshi Samaranayake and Vajira H. W. Dissanayake.
BMC Research Notes (2019) 12:476 https://doi.org/10.1186/s13104-019-4512-9
Publication year: 2019

Cornelia de Lange syndrome in diverse populations.

Publications in Peer Reviewed Indexed Journals
Dowsett L, Porras AR, Kruszka P, Randon Davis, Tommy Hu, Engela Honey, Eben Badoe, Meow-Keong Thong, Eyby Leon, Katta M. Girisha, Anju Shukla, Shalini S. Nayak, Vorasuk Shotelersuk, Andre Megarbane, Shubha Phadke, Nirmala D. Sirisena, Vajira H. W. Dissanayake, Carlos R. Ferreira, Monisha S. Kisling, Pranoot Tanpaiboon, Annette Uwineza.
Am J Med Genet Part A. 2019;179A:150–158. DOI: 10.1002/ajmg.a.61033
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
Wijesiriwardhana P, Neththikumara NF, Sirisena UND, Wetthasinghe TK, Dissanayake VHW.
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
Dasanayaka H.M.N.N., Sirisena N.D., Samaranayake T.N.
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
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

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
Neththikumara N, Pathirana S, Sirisena UND, Wetthasinghe K, Dissanayake VHW.
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

Williams–Beuren syndrome in diverse populations

Publications in Peer Reviewed Indexed Journals
Paul Kruszka, Antonio R. Porras, Deise Helena de Souza, Ange lica Moresco, Victoria Huckstadt, Ashleigh D. Gill, Alec P. Boyle, Tommy Hu, Karen Fieggen, Eloise J. Prijoles, Luk Ho-Ming, Ivan F. M. Lo, Premala Muthukumarasamy, Kelly L. Jones, Khadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Laila Bouguenouch, Anju Shukla, Katta M. Girisha, Nirmala D. Sirisena, Vajira H. W. Dissanayake, C. Sampath Paththinige, Rupesh Mishra, Monisha S. Kisling, Carlos R. Ferreira, Ni-Chung Lee, Jiin Ying Lim, Stephanie Lotz-Esquivel, Ramse s Badilla-Porras, Dalia Farouk Hussen, Mona O. El Ruby, Engy A. Ashaat, Siddaramappa J. Patil, Yonit A. Addissie, Gary T. K. Mok, Cedrik Tekendo-Ngongang, Pranoot Tanpaiboon, Engela Honey, Meow-Keong Thong, Saumya S. Jamuar, Cham Breana Wen-Min, Neerja Gupta, María Beatriz de Herreros, Angeline Lai, Tan Ee Shien, Leah Dowsett, Eben Badoe, Brian H. Y. Chung, Milana Trubnykova, Jorge La Serna, Bertha Elena Gallardo Jugo, Miguel Ch avez Pastor, Hugo Hern Abarca Barriga, Andre Megarbane, Beth A. Kozel, Alison Eaton, A. Micheil Innes, Vorasuk Shotelersuk, Ambroise Wonkam, María Gabriela Obregon, Mieke M. van Haelst, Adeyemo A. Adebowale, Colleen A. Morris, Danilo Moretti-Ferreira, Marius George Linguraru, Maximilian Muenke.
Am J Med Genet. 2018;176A:1128–1136. DOI: 10.1002/ajmg.a.38672
Publication year: 2018

Taking Genomics from the Bench to the Bedside in Developing Countries. In: Translational and Applied Genomics Series - Genomic Medicine in Emerging Economies – Genomics for Every Nation” - Catalina Lopez-Correa and George P. Patrinos (Ed.)

Book Chapters
Nirmala D. Sirisena and Vajira H.W. Dissanayake.
Academic Press (Elsevier), July 2018; p. 13-26.
Publication year: 2018

Susceptible and Prognostic Genetic Factors Associated with Diabetic Peripheral Neuropathy: A Comprehensive Literature Review.

Publications in Peer Reviewed Indexed Journals
L.B.L. Prabodha, N. D. Sirisena, and V. H. W. Dissanayake.
International Journal of Endocrinology Volume 2018, Article ID 8641942, 9 pages https://doi.org/10.1155/2018/8641942
Publication year: 2018

Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.

Publications in Peer Reviewed Indexed Journals
C. S. Paththinige, Nirmala D. Sirisena, Fabienne Escande, Sylvie Manouvrier, Florence Petit and Vajira H. W. Dissanayake.
BMC Medical Genetics (2019) 20:108 https://doi.org/10.1186/s12881-019-0839-2
Publication year: 2018

Relative normalized luciferase activity for the recombinant vector constructs carrying the ancestral and variant alleles for XRCC2:rs3218550 and PHB:rs6917.

Publications in Peer Reviewed Indexed Journals
Nirmala Dushyanthi Sirisena, Nilakshi Samaranayake and Vajira H. W. Dissanayake.
BMC Research Notes 2018 September; 11:643. https://doi.org/10.1186/s13104-018-3760-4
Publication year: 2018

Pattern of germline genetic variants in cancer predisposing genes in a Sri Lankan cohort with inherited cancer syndromes.

Peer Reviewed Presentations Published as Abstracts
Nirmala D. Sirisena, Nilaksha Neththikumara, Sajeewani Pathirana, Dineshani Hettiarachchi, Kalum Weththasinghe, Vajira H.W. Dissanayake.
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

Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature.

Publications in Peer Reviewed Indexed Journals
R. Mishra, C.S. Paththinige, N.D. Sirisena, S. Nanayakkara, U.G.I.U. Kariyawasam and V.H.W. Dissanayake.
BMC Pediatrics (2018) 18:4 DOI 10.1186/s12887-017-0980-z
Publication year: 2018

Genetic Variants Associated with Clinicopathological Profiles in Sporadic Breast Cancer in Sri Lankan Women.

Publications in Peer Reviewed Indexed Journals
Nirmala Dushyanthi Sirisena, Adebowale Adeyemo, Anchala Ishani Kuruppu, Nilakshi Samaranayake, Vajira Harshadeva Weerabaddana Dissanayake.
J Breast Cancer 2018 June; 21(2): 165-172. https://doi.org/10.4048/jbc.2018.21.2.165
Publication year: 2018

Genetic determinants of sporadic breast cancer in Sri Lankan women

Publications in Peer Reviewed Indexed Journals
Nirmala Dushyanthi Sirisena, Adebowale Adeyemo, Anchala I. Kuruppu, Nilaksha Neththikumara, Nilakshi Samaranayake and Vajira H.W. Dissanayake.
BMC Cancer (2018) 18:180. DOI 10.1186/s12885-018-4112-4
Publication year: 2018

Frequency of variants in genes associated with diabetic peripheral neuropathy in Sinhalese in Sri Lanka.

Peer Reviewed Presentations Published as Abstracts
L.B.L. Prabodha, N.D. Sirisena, N. Neththikumara, V.H.W. Dissanayake.
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

Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report.

Publications in Peer Reviewed Indexed Journals
Vithiya Ratnasamy, Suganthan Navaneethakrishnan, Nirmala Dushyanthi Sirisena, Nana-Maria Grüning, Oliver Brandau, Kumanan Thirunavukarasu, Casey L. Dagnall, Lisa J. McReynolds, Sharon A. Savage and Vajira H. W. Dissanayake.
BMC Medical Genetics (2018) 19:85 https://doi.org/10.1186/s12881-018-0584-y
Publication year: 2018

A child with multiple congenital anomalies due to partial trisomy 7q22.1→qter resulting from a maternally inherited balanced translocation: a case report and review of literature.

Publications in Peer Reviewed Indexed Journals
C. S. Paththinige, N. D. Sirisena, U. G. I. U. Kariyawasam, R. C. Ediriweera, P. Kruszka, M. Muenke and V. H. W. Dissanayake.
BMC Medical Genomics (2018) 11:44. https://doi.org/10.1186/s12920-018-0366-6
Publication year: 2018

The spectrum and frequency of chromosomal translocations in a cohort of Sri Lankan patients.

Peer Reviewed Presentations Published as Abstracts
Paththinige CS, Sirisena UND, Kariyawasam UGIU, Dissanayake VHW.
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
Sirisena UND, Neththikumara N, Wetthasinghe K, Dissanayake VHW.
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

The pattern of KRAS mutations in metastatic colorectal cancer: a retrospective audit from Sri Lanka. Sirisena et al.

Publications in Peer Reviewed Indexed Journals
Nirmala Dushyanthi Sirisena, Kemal Deen, Dayupathi Eranda Nipunika Mandawala, Pumindu Herath and Vajira Harshadeva Weerabaddana Dissanayake.
BMC Res Notes (2017) 10:392. DOI 10.1186/s13104-017-2731-5
Publication year: 2017

The frequency and Phenotypic Spectrum of Cytogenetic Abnormalities in Sri Lankan Children.

Peer Reviewed Presentations Published as Abstracts
CS Paththinige, ND Sirisena, IU Kariyawasam, VHW Dissanayake.
6th Global Congress for Consensus in Paediatrics and Child Health in conjunction with the 20th Annual Scientific Congress of the Sri Lanka College of Paediatricians, 12th – 15th November 2017, Colombo, Sri Lanka. Abstracted in the proceedings of the conference, p. 114-5.
Publication year: 2017
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