Publications by authors named "Nirmala D Sirisena"

21Publications

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

Front Genet 2019 8;10:944. Epub 2019 Oct 8.

Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.

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http://dx.doi.org/10.3389/fgene.2019.00944DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6791921PMC
October 2019

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

BMC Res Notes 2019 Aug 1;12(1):476. Epub 2019 Aug 1.

Human Genetics Unit, Faculty of Medicine, University of Colombo, No. 25 Kynsey Road, Colombo 8, 00800, Sri Lanka.

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http://dx.doi.org/10.1186/s13104-019-4512-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6676616PMC
August 2019

Genetics and genomic medicine in Sri Lanka.

Mol Genet Genomic Med 2019 06 20;7(6):e744. Epub 2019 May 20.

Human Genetics Unit, Faculty of Medicine, University of Colombo, Sri Lanka.

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http://dx.doi.org/10.1002/mgg3.744DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565544PMC
June 2019

The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans.

Biomed Res Int 2019 2;2019:9797104. Epub 2019 Apr 2.

Human Genetics Unit, Faculty of Medicine, University of Colombo, Sri Lanka.

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https://www.hindawi.com/journals/bmri/2019/9797104/
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http://dx.doi.org/10.1155/2019/9797104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6466940PMC
September 2019

Williams-Beuren syndrome in diverse populations.

Am J Med Genet A 2018 05;176(5):1128-1136

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.38672
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http://dx.doi.org/10.1002/ajmg.a.38672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007881PMC
May 2018

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.

J Community Genet 2017 Oct 11;8(4):275-281. Epub 2017 Jul 11.

Human Genetics Unit, Faculty of Medicine, University of Colombo, Kynsey Road, Colombo 8, Sri Lanka.

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http://dx.doi.org/10.1007/s12687-017-0311-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5614882PMC
October 2017

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

Appl Transl Genom 2016 Jun 17;9:33-6. Epub 2016 May 17.

Human Genetics Unit, Faculty of Medicine, University of Colombo, Sri Lanka.

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http://dx.doi.org/10.1016/j.atg.2016.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4911425PMC
June 2016

Novel AGXT gene mutation in a Sri Lankan family with primary Hyperoxaluria type 1.

Nephrology (Carlton) 2016 Jan;21(1):75-6

Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.

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http://dx.doi.org/10.1111/nep.12572DOI Listing
January 2016

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

Nephrology (Carlton) 2015 Aug;20(8):580

Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.

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http://dx.doi.org/10.1111/nep.12430DOI Listing
August 2015

Child with deletion 9p syndrome presenting with craniofacial dysmorphism, developmental delay, and multiple congenital malformations.

Case Rep Genet 2013 25;2013:785830. Epub 2013 Jul 25.

Human Genetics Unit, Faculty of Medicine, University of Colombo, Kynsey Road, Colombo 08, 00800, Sri Lanka.

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http://dx.doi.org/10.1155/2013/785830DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3741698PMC
August 2013

A case series of five sri lankan patients with ovotesticular disorder of sex development.

Clin Pediatr Endocrinol 2012 Oct 30;21(4):69-73. Epub 2012 Oct 30.

Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.

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http://dx.doi.org/10.1297/cpe.21.69DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3687650PMC
October 2012

Prevalence of chromosomal abnormalities in Sri Lankan women with primary amenorrhea.

J Obstet Gynaecol Res 2013 May 21;39(5):991-7. Epub 2012 Dec 21.

Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.

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http://dx.doi.org/10.1111/j.1447-0756.2012.02063.xDOI Listing
May 2013

Candidate gene study of genetic thrombophilic polymorphisms in pre-eclampsia and recurrent pregnancy loss in Sinhalese women.

J Obstet Gynaecol Res 2012 Sep 30;38(9):1168-76. Epub 2012 Apr 30.

Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.

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http://dx.doi.org/10.1111/j.1447-0756.2012.01846.xDOI Listing
September 2012