Publications in Peer Reviewed Indexed Journals

Publication Types:

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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

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

The Provision of Medical and Health Genetics and Genomics in the Developing World

Publications in Peer Reviewed Indexed Journals
Sirisena, N.D., Sumathipala, D., Wetthasinghe, K., Dissanayake, V.H.W
Publication year: 2016

Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities

Publications in Peer Reviewed Indexed Journals
Paththinige, C.S., Sirisena, N.D., Kariyawasam, U.G.I.U., Saman Kumara L. P. C., Dissanayake, V.H.W
Publication year: 2016

Novel AGXT Gene Mutation in a Sri Lankan Family with Primary Hyperoxaluria Type 1. Nephrology

Publications in Peer Reviewed Indexed Journals
Sirisena, N.D., Tantrigoda, N.H., Kariyawasam, K.J.C., Jayasekara, R.W., Dissanayake, V.H.W.
Vol No. 21(1); January; pp.76-77
Publication year: 2016

Implementation of genomic medicine in Sri Lanka: Initial experience and challenges

Publications in Peer Reviewed Indexed Journals
Sirisena, N.D., Neththikumara, N., Wetthasinghe, K., Dissanayake, V.H.W
Publication year: 2016

HLA-B27 allele frequency in Sri Lankan patients with spondyloarthritides

Publications in Peer Reviewed Indexed Journals
Kidnapillai, S., Sirisena, N.D., Dissanayake, V.H.W
Ceylon Medical Journal. Vol No. 61(2); June; pp.71–73
Publication year: 2016

Correspondence: Establishing a relationship between clinical features and one specific type of chromosome abnormality

Publications in Peer Reviewed Indexed Journals
Sirisena, N.D., Dissanayake, V.H.W
Journal of Pediatrics. Vol No. 12 (3)
Publication year: 2016

A case series of 7 Sri Lankan patients with type 1 spinal muscular atrophy

Publications in Peer Reviewed Indexed Journals
Banstola, S.R., Sirisena, N.D., Sumathipala, D.S., Dissanayake, V.H.W
Sri Lanka Journal of Child Health. Vol No. 45(4); December; pp.247–249
Publication year: 2016

Novel COL4A3 gene mutations in a consanguineous family with autosomal recessive Alport syndrome

Publications in Peer Reviewed Indexed Journals
Nirmala D Sirisena, Shenal Thalgahagoda, Asiri Abeyagunawardena, Manuela Neumann, Hans‐Otto Schmudlach, Rohan W Jayasekara, Vajira HW Dissanayake
Publication year: 2015

Androgen insensitivity syndrome in a cohort of Sri Lankan children with 46, XY disorders of sex development

Publications in Peer Reviewed Indexed Journals
K S H de Silva, N D Sirisena, H K Wijenayaka, J G Cooray, R W Jayasekara, V H W Dissanayake
Ceylon Medical Journal; 60 (4): 139-142
Publication year: 2015

A Sri Lankan family with cerebellar hemangioblastoma due to a heterozygous nonsense mutation in the von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase (VHL) gene

Publications in Peer Reviewed Indexed Journals
PKDCT Somadasa, UND Sirisena, LSC De Silva, VHW Dissanayake.
Sri Lanka Journal of Surgery 33 (1), 30-32
Publication year: 2015

The Prevalence of the Prothrombin (F2) 20210G>A Mutation in a Cohort of Sri Lankan Patients with Thromboembolic Disorders

Publications in Peer Reviewed Indexed Journals
K.M.D. Gunathilake, U.N.D. Sirisena, P.K.D. Nisansala, H.W.W. Goonasekera, R.W. Jayasekara, V.H.W. Dissanayake
Indian Journal of Hematology and Blood Transfusion
Publication year: 2014

Review - Cancer Genetics and the Surgeon – new frontiers

Publications in Peer Reviewed Indexed Journals
U.N.D. Sirisena, V.H.W. Dissanayake.
The Sri Lanka Journal of Surgery 32(2): 12-19
Publication year: 2014

Prevalence of Chromosomal Abnormalities in a Cohort of Sri Lankan Children referred for Cytogenetic Analysis

Publications in Peer Reviewed Indexed Journals
Sharmila Thillainathan, Nirmala D. Sirisena, K.W. Jayani C. Kariyawasam, Rohan W. Jayasekara, Vajira H.W. Dissanayake
Publication year: 2014

Child with a novel de novo mutation in the Aristaless Domain of the Aristaless-Related Homeobox (ARX) gene presenting with ambiguous genitalia and psychomotor delay

Publications in Peer Reviewed Indexed Journals
N.D. Sirisena, K. McElreavey, A. Bashamboo, K.S.H. de Silva, R.W. Jayasekara, V.H.W. Dissanayake
Publication year: 2014

Prevalence of chromosomal abnormalities in Sri Lankan women with primary amenorrhoea

Publications in Peer Reviewed Indexed Journals
Lasitha Samarakoon, Nirmala D. Sirisena, Kalum T. Wettasinghe, K.W. Jayani C. Kariyawasam, Rohan W. Jayasekara and Vajira H.W. Dissanayake
J. Obstet. Gynaecol. Res. Vol. 39, No. 5: 991-997,
Publication year: 2013

Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay and Multiple Congenital Malformations

Publications in Peer Reviewed Indexed Journals
Nirmala D. Sirisena, U. Kalpani S. Wijetunge, Ramya de Silva and Vajira H.W. Dissanayake
Publication year: 2013

Candidate Gene Study of Genetic Thrombophilic Polymorphisms in Pre-Eclampsia and Recurrent Pregnancy Loss in Sinhalese Women

Publications in Peer Reviewed Indexed Journals
Vajira H.W. Dissanayake, Nirmala D. Sirisena, Lakshini Y. Weerasekera, Chumithri G. Gammulla, Harshalal R. Seneviratne and Rohan W. Jayasekara
J. Obstet. Gynaecol. Res. Vol. 38, No. 9: 1168-1176
Publication year: 2012

A Case Series of Five Sri Lankan Patients with Ovotesticular Disorder of Sex Development

Publications in Peer Reviewed Indexed Journals
Kalum T. Wettasinghe, Nirmala D. Sirisena, Prabha H. Andraweera, Rohan W. Jayasekara and Vajira H.W. Dissanayake
Publication year: 2012

Renal disease in the acquired immunodeficiency syndrome in north central Nigeria. Niger

Publications in Peer Reviewed Indexed Journals
E.I. Agaba, P.A. Agaba, N.D. Sirisena, E.A. Anteyi, J.A. Idoko
Publication year: 2003

CD4+ T-lymphocyte counts in patients with Human Immunodeficiency Virus type 1 (HIV-1) and healthy population in Jos, Nigeria. Niger

Publications in Peer Reviewed Indexed Journals
M.O. Njoku, N.D. Sirisena, J.A. Idoko, D. Jelpe
Publication year: 2003

The prevalence and clinical pattern of Human Immunodeficiency Virus 1 (HIV-1) infection in Nigerian prisoners

Publications in Peer Reviewed Indexed Journals
Sirisena N.D
Publication year: 2002

Hepatitis B surface antigenaemia in patients with Human Immunodeficiency Virus-1 (HIV-1) infection in Jos, Nigeria

Publications in Peer Reviewed Indexed Journals
ND Sirisena, MO Njoku, JA Idoko
Publication year: 2002

Carriage rate of hepatitis-B surface antigen (HBsAg) in an urban community in Jos, Plateau State, Nigeria. Nige

Publications in Peer Reviewed Indexed Journals
N.D. Sirisena, M.O. Njoku, J.A. Idoko, E. Isamade, C. Barau, D. Jelpe, A. Zamani, S. Otowo
Publication year: 2002

CD4+ T-lymphocyte counts in Human Immunodeficiency Virus (HIV) infected and healthy Nigerian population

Publications in Peer Reviewed Indexed Journals
doko J.A., Njoku M.O., Sirisena N.D
Publication year: 2001
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