Publications

The first Sri Lankan family with Dent disease‑1 due to a pathogenic variant in the CLCN5 gene: a case report

Publications in Peer Reviewed Indexed Journals

Randula Ranawaka, Nirmala Dushyanthi Sirisena, Kavinda Chandimal Dayasiri, Andrea G. Cogal, John C. Lieske, Manoji Prabashini Gamage and Vajira H. W. Dissanayake.

BMC Res Notes (2017) 10:539. DOI 10.1186/s13104-017-2881-5

Publication year: 2017

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

Peer Reviewed Presentations Published as Abstracts

Dissanayake VHW, Prabodha LBL, Sirisena ND.

Cardio Diabetes Medicine - 2017, Indo Global Cardio Diabetes Academy, Chennai, India, 29th Sept. - 1st Oct. 2017. Published in the Global Cardio Diabetes Conclave GCDC Edition 2017, p. 631-7.

Publication year: 2017

Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report.

Publications in Peer Reviewed Indexed Journals

Chandrika Jayakanthi Subasinghe, Nirmala Dushyanthi Sirisena, Chula Herath, Knut Erik Berge, Trond Paul Leren, Uditha Bulugahapitiya and Vajira Harshadeva Weerabaddana Dissanayake

BMC Nephrology (2017) 18:140 DOI 10.1186/s12882-017-0563-0

Publication year: 2017

Noonan syndrome in diverse populations.

Publications in Peer Reviewed Indexed Journals

Paul Kruszka, Antonio R. Porras, Yonit A. Addissie, Angélica Moresco, Sofia Medrano, Gary T. K. Mok, Gordon K. C. Leung, Cedrik Tekendo-Ngongang, Annette Uwineza, Meow-Keong Thong, Premala Muthukumarasamy, Engela Honey, Ekanem N. Ekure, Ogochukwu J. Sokunbi, Nnenna Kalu, Kelly L. Jones, Julie D. Kaplan, Omar A. Abdul-Rahman, Lisa M. Vincent, Amber Love, Khadija Belhassan. Karim Ouldim, Ihssane El Bouchikhi, Anju Shukla, Katta M. Girisha, Siddaramappa J. Patil, Nirmala D. Sirisena, Vajira H. W. Dissanayake, C. Sampath Paththinige, Rupesh Mishra, Eva Klein-Zighelboim, Bertha E. Gallardo Jugo, Miguel Chávez Pastor, Hugo H. Abarca-Barriga, Steven A. Skinner, Eloise J. Prijoles, Eben Badoe, Ashleigh D. Gill, Vorasuk Shotelersuk, Patroula Smpokou, Monisha S. Kisling, Carlos R. Ferreira, Leon Mutesa, Andre Megarbane, Antonie D. Kline, Amy Kimball, Emmy Okello, Peter Lwabi, Twalib Aliku, Emmanuel Tenywa, Nonglak Boonchooduang, Pranoot Tanpaiboon, Antonio Richieri-Costa, Ambroise Wonkam, Brian H. Y. Chung Roger E. Stevenson, Marshall Summar, Kausik Mandal, Shubha R. Phadke, María G. Obregon, Marius G. Linguraru and Maximilian Muenke.

Am J Med Genet Part A. 2017;1–12. https://doi.org/10.1002/ajmg.a.38362

Publication year: 2017

Implementation of multi-gene panel testing for hereditary cancer predisposition in Sri Lanka: initial experiences.

Peer Reviewed Presentations Published as Abstracts

Sirisena UND, Neththikumara N, Wetthasinghe K, Herath L, Dissanayake VHW.

130th Anniversary International Medical Congress of the Sri Lanka Medical Association. Ceylon Medical Journal, Vol 62 Supplement 1, July 2017; p. 183.

Publication year: 2017

Genetic Variants Associated with Risk and Clinico-pathological Profile of Sporadic Breast Cancer in Sri Lankan Women.

Peer Reviewed Presentations Published as Abstracts

ND Sirisena, A Kuruppu, A Adeyemo, N Neththikumara, N Samaranayake, VHW Dissanayake

The Landscape of Genetic Variants in Asian Founder Populations – from Near to Far East. 2nd International Conference on Founder Populations, Kochi, Kerala, India, 9th - 12th November 2017. Abstracted in the proceedings of the conference, p. 60.

Publication year: 2017

Genetic determinants of sporadic breast cancer in Sri Lankan women.

Peer Reviewed Presentations Published as Abstracts

Sirisena UND, Adeyemo A, Kuruppu AI, Neththikumara N, Samaranayake N, Dissanayake VHW.

130th Anniversary International Medical Congress of the Sri Lanka Medical Association. Ceylon Medical Journal, Vol 62 Supplement 1, July 2017; p. 77.

Publication year: 2017

Genetic Determinants of Sporadic Breast Cancer in a Cohort of Sri Lankan Postmenopausal Women.

Peer Reviewed Presentations Published as Abstracts

Nirmala Sirisena, Anchala Kuruppu, Adebowale Adeyemo, Nilaksha Neththikumara, Nilakshi Samaranayake, Vajira H. W. Dissanayake.

Global Breast Cancer Conference 2017 held at Jeju Island, South Korea, 20th – 22nd April 2017. (Abstracted in the proceedings of the conference, p. 112)

Publication year: 2017

Genetic determinants of inherited susceptibility to hypercholesterolemia – a comprehensive literature review.

Publications in Peer Reviewed Indexed Journals

CS Paththinige, ND Sirisena and VHW Dissanayake.

Lipids in Health and Disease (2017) 16:103.DOI 10.1186/s12944-017-0488-4

Publication year: 2017

Focusing attention on ancestral diversity within genomics research: a potential means for promoting equity in the provision of genomics based healthcare services in developing countries.

Publications in Peer Reviewed Indexed Journals

Sirisena, N.D. & Dissanayake, V.H.W.

J Community Genet (2017) 8:275-81. https://doi.org/10.1007/s12687-017-0311-y

Publication year: 2017

Down syndrome in diverse populations.

Publications in Peer Reviewed Indexed Journals

Kruszka P, Porras AR, Sobering AK, Ikolo FA, La Qua S, Shotelersuk V, Chung BHY, Mok GTK, Uwineza A, Mutesa L, Moresco A, Obregon MG, Sokunbi OJ, Kalu N, Joseph DA, Ikebudu D, Ugwu CE, Okoromah CAN, Addissie YA, Pardo KL, Brough JJ, Lee N-C, Girisha KM, Patil SJ, Ng ISL, Min BCW, Jamuar SS, Tibrewal S, Wallang B, Ganesh S, Sirisena ND, Dissanayake VHW, Paththinige CS, Prabodha LBL, Richieri-Costa A, Muthukumarasamy P, Thong M-K, Jones KL, Abdul-Rahman OA, Ekure EN, Adeyemo AA, Summar M, Linguraru MG, Muenke M

Am J Med Genet Part A Vol No. 173A:pp.42–53

Publication year: 2017

Cytogenetic and phenotypic spectrum in a cohort of infants with congenital abnormalities.

Peer Reviewed - National

Paththinige CS, Kariyawasam UGIU, Perera ADS, Amalka BAT, Saumya WAKS, Sirisena UND, Dissanayake VHW.

16th Annual Scientific Congress of the Perinatal Society of Sri Lanka, held on 24th August 2017, Colombo, Sri Lanka. (Abstracted in the proceedings of the conference, p. 43-44). This paper won the best poster presentation award at the Congress.

Publication year: 2017

Chromosomal abnormalities in a cohort of women with primary amenorrhea.

Peer Reviewed - National

UGIU Kariyawasam, PHJ Cooray, PKDS Nisansala, WAKS Saumya, ADS Perera, BAT Amalka, CS Paththinige, UND Sirisena, VHW Dissanayake.

Annual Research Symposium of the Faculty of Medicine, Colombo on 28th November 2017 (Abstracted in the proceedings of the workshop).

Publication year: 2017

A case series of three Sri Lankan families with hereditary breast and ovarian cancer syndrome due to pathogenic germline mutations in the BRCA1 gene.

Publications in Peer Reviewed Indexed Journals

N. D. Sirisena, B. Gautam, N. D. W. Dissanayake, V. H. W. Dissanayake.

Ceylon Medical Journal 2017; 62: 65-66. DOI: http://doi.org/10.4038/cmj.v62i1.8437

Publication year: 2017

22q11.2 deletion syndrome in diverse populations.

Publications in Peer Reviewed Indexed Journals

Paul Kruszka, Yonit A. Addissie, Daniel E. McGinn, Antonio R. Porras, Elijah Biggs, Matthew Share, T. Blaine Crowley, Brian H. Y. Chung, Gary T. K. Mok, Christopher C. Y. Mak, Premala Muthukumarasamy, Meow-Keong Thong, Nirmala D. Sirisena, Vajira H. W. Dissanayake, C. Sampath Paththinige, L. B. Lahiru Prabodha, Rupesh Mishra, Vorasuk Shotelersuk, Ekanem Nsikak Ekure, Ogochukwu Jidechukwu Sokunbi, Nnenna Kalu, Carlos R. Ferreira, Jordann-Mishael Duncan, Siddaramappa Jagdish Patil, Kelly L. Jones, Julie D. Kaplan, Omar A. Abdul-Rahman, Annette Uwineza, Leon Mutesa, Angélica Moresco, María Gabriela Obregon, Antonio Richieri-Costa, Vera L. Gil-da-Silva-Lopes, Adebowale A. Adeyemo, Marshall Summar, Elaine H. Zackai, Donna M. McDonald-McGinn, Marius George Linguraru, Maximilian Muenke.

Am J Med Genet. 2017;173:879–888. DOI 10.1002/ajmg.a.38199

Publication year: 2017