Publications in Peer Reviewed Indexed Journals

Publication Types:

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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

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

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

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

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

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

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

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

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

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

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

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

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

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

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 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 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

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

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
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