Publications

Williams-Beuren syndrome in diverse populations.

Publications in Peer-Reviewed Journals

Kruszka P, Porras AR, de Souza DH, Moresco A, Huckstadt V, Gill AD, Boyle AP, Hu T, Addissie YA, Mok GTK, Tekendo-Ngongang C, Fieggen K, Prijoles EJ, Tanpaiboon P, Honey E, Luk HM, Lo IFM, Thong MK, Muthukumarasamy P, Jones KL, Belhassan K, Ouldim K, El Bouchikhi I, Bouguenouch L, Shukla A, Girisha KM, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Kisling MS, Ferreira CR, de Herreros MB, Lee NC, Jamuar SS, Lai A, Tan ES, Ying Lim J, Wen-Min CB, Gupta N, Lotz-Esquivel S, Badilla-Porras R, Hussen DF, El Ruby MO, Ashaat EA, Patil SJ, Dowsett L, Eaton A, Innes AM, Shotelersuk V, Badoe Ë, Wonkam A, Obregon MG, Chung BHY, Trubnykova M, La Serna J, Gallardo Jugo BE, Chávez Pastor M, Abarca Barriga HH, Megarbane A, Kozel BA, van Haelst MM, Stevenson RE, Summar M, Adeyemo AA, Morris CA, Moretti-Ferreira D, Linguraru MG, Muenke M.

Publication year: 2018

Taking Genomics from the Bench to the Bedside in Developing Countries.

Books/Book Chapter

Sirisena ND, Dissanayake VHW

Publication year: 2018

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

Publications in Peer-Reviewed Journals

Prabodha LBL, Sirisena ND, Dissanayake VHW.

Publication year: 2018

Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - a preliminary report.

Publications in Peer-Reviewed Journals

Paththinige CS, Rajapakse JRDK, Constantine GR, Sem KP, Singaraja RR, Jayasekara RW, Dissanayake VHW.

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 Journals

Sirisena ND, Samaranayake N; Dissanayake VHW.

Publication year: 2018

Population Screening for Hemoglobinopathies.

Publications in Peer-Reviewed Journals

Goonasekera HW, Paththinige CS, Dissanayake VHW.

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 Journals

Mishra R, Paththinige CS, Sirisena ND, Nanayakkara S, Kariyawasam UGIU, Dissanayake VHW.

Publication year: 2018

History of Medicine in Sri Lanka 1948-2018

Books/Book Chapter

Dissanayake VHW. Health informatics. In Abeykoon P, Abeywickrama I, Karalliedda L, Veerasingham PG Ed

Publication year: 2018

HbS/D-Punjab Disease: Report of 3 Cases from Sri Lanka.

Publications in Peer-Reviewed Journals

Thalagahage KH, Jayaweera JAAS, Kumbukgolla W, Perera N, Thalagahage E, Kariyawasam J, Dissanayake V.

Publication year: 2018

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

Publications in Peer-Reviewed Journals

Sirisena ND, Adeyemo A, Kuruppu AI, Samaranayake N, Dissanayake VH.

Publication year: 2018

Genetic Determinants of Sporadic Breast Cancer in Sri Lankan Women.

Publications in Peer-Reviewed Journals

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

Publication year: 2018

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

Publications in Peer-Reviewed Journals

Ratnasamy V, Navaneethakrishnan S, Sirisena ND, Grüning NM, Brandau O, Thirunavukarasu K, Dagnall CL, McReynolds LJ, Savage SA, Dissanayake VHW.

Publication year: 2018

Cenani-Lenz Syndactyly syndrome - a case report of a family with isolated syndactyly.

Publications in Peer-Reviewed Journals

Hettiarachchi D, Jayawardana MSA, Bonnard C, Jin Ng AY, Tohari S, Venkatesh B, Reversade B, Dissanayake VHW; Singaraja R.

Publication year: 2018

A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B).

Publications in Peer-Reviewed Journals

Hettiarachchi D, Nethikumara N, Pathirana BAPS, Weththasigha K, Dissanayake WDN, Dissanayake VHW.

Publication year: 2018

A Novel Mutation in the EIF2B4 Gene Associated with Leukoencephalopathy with Vanishing White Matter.

Publications in Peer-Reviewed Journals

Hettiaracchchi D, Neththikumara N, Pathirana BAPS, Padeniya A, Dissanayake VHW.

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 Journals

Paththinige CS, Sirisena ND, Kariyawasam UGIU, Ediriweera RC, Kruszka P, Muenke M, Dissanayake VHW.

Publication year: 2018

Whole Genome Sequencing and Analysis of Godawee, a Salt Tolerant Indica Rice Variety.

Publications in Peer-Reviewed Journals

Singhabahu S, Wijesinghe C, Gunawardana D, Senerath-Yapa MD, Kannangara M, Edirisinghe R, Dissanayake VHW.

Publication year: 2017

Variants of IL1A gene associate with Modic changes of lumbar spine.

Communications at Scientific Meetings - National

Perera GLRS, Wijayaratne LS, Senarath U, Dissanayake PH, Karunanayake AL, Dissanayake VHW

Publication year: 2017

Variants of ACAN gene associate with severity of lumbar disc degeneration.

Communications at Scientific Meetings - National

Perera GLRS, Wijayaratne LS, Senarath U, Dissanayake PH, Karunanayake AL, Dissanayake VHW

Publication year: 2017

Variants of ACAN are associated with severity of lumbar disc herniation in patients with chronic low back pain.

Publications in Peer-Reviewed Journals

Perera RS, Dissanayake PH, Senarath U, Wijayaratne LS, Karunanayake AL, Dissanayake VHW.

Publication year: 2017

the spectrum of microdeletion/microduplication syndromes detected using multiplex ligation-dependent probe amplification test in a cohort of Sri Lankan patients

Communications at Scientific Meetings - National

Paththinige CS, Mandawala DEN, Abeysekera AAGS, Dissanayake VHW

Publication year: 2017

The spectrum of deletions and duplications in the Dystrophin (DMD) gene in a cohort of patients with Duchenne Muscular Dystrophy in Sri Lanka.

Publications in Peer-Reviewed Journals

Thakur N, Abeysekara AGS, Wanigasinghe J, Dissanayake VHW.

Publication year: 2017

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

Communications at Scientific Meetings - National

Paththinige CS, Sirisena UND, Kariyawasam UGIU, Dissanayake VHW

Publication year: 2017

The results of the first 25 clinical exomes tested in the Sri Lankan population

Communications at Scientific Meetings - National

Sirisena UND, Neththikumara N, Wetthasinghe K, Dissanayake VHW

Publication year: 2017

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

Publications in Peer-Reviewed Journals

Sirisena ND, Deen K, Mandawala DEN, Herath P, Dissanayake VHW.

Publication year: 2017

The INSR rs2059806 single nucleotide polymorphism, a genetic risk factor for vascular and metabolic disease, associates with pre-eclampsia.

Publications in Peer-Reviewed Journals

Andraweera PH, Gatford K, Dekker G, Leemaqz S, Jayasekara RW, Dissanayake VHW, Mc Cowan L, Roberts CT.

Publication year: 2017

The Frequency and Phenotypic Spectrum of Cytogenetic Abnormalities in Sri Lankan Children

Communications at Scientific Meetings - International

Paththinige CS, Sirisena ND, Kariyawasam IU, Dissanayake VHW.

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 Journals

Ranawaka R, Sirisena ND, Dayasiri KC, Cogal AG, Lieske JC, Gamage MP, Dissanayake VHW.

Publication year: 2017

The First Sri Lankan Family with Dent Disease-1 Due to a Pathogenic Variant in the CLCN5 Gene: A Case Report

Communications at Scientific Meetings - International

Ranawaka R, Sirisena N, Dayasiri K, Gamage M, Cogal A, Lieske J, Dissanayake V.

Publication year: 2017

Spectrum of low-density lipoprotein receptor (LDLR) gene mutations in a cohort of Sri Lankan patients with familial hypercholesterolaemia:a preliminary report

Communications at Scientific Meetings - National

Paththinige CS, Rajapakse JRDK, Constantine GR, Singaraja RR, Jayasekara RW, Dissanayake VHW

Publication year: 2017

Vidya Jyothi Prof. Vajira H.W. Dissanayake

Filter by type:

Williams-Beuren syndrome in diverse populations.

Taking Genomics from the Bench to the Bedside in Developing Countries.

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

Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - a preliminary report.

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

Population Screening for Hemoglobinopathies.

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.

History of Medicine in Sri Lanka 1948-2018

HbS/D-Punjab Disease: Report of 3 Cases from Sri Lanka.

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

Genetic Determinants of Sporadic Breast Cancer in Sri Lankan Women.

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

Cenani-Lenz Syndactyly syndrome - a case report of a family with isolated syndactyly.

A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B).

A Novel Mutation in the EIF2B4 Gene Associated with Leukoencephalopathy with Vanishing White Matter.

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.

Whole Genome Sequencing and Analysis of Godawee, a Salt Tolerant Indica Rice Variety.

Variants of IL1A gene associate with Modic changes of lumbar spine.

Variants of ACAN gene associate with severity of lumbar disc degeneration.

Variants of ACAN are associated with severity of lumbar disc herniation in patients with chronic low back pain.

the spectrum of microdeletion/microduplication syndromes detected using multiplex ligation-dependent probe amplification test in a cohort of Sri Lankan patients

The spectrum of deletions and duplications in the Dystrophin (DMD) gene in a cohort of patients with Duchenne Muscular Dystrophy in Sri Lanka.

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

The results of the first 25 clinical exomes tested in the Sri Lankan population

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

The INSR rs2059806 single nucleotide polymorphism, a genetic risk factor for vascular and metabolic disease, associates with pre-eclampsia.

The Frequency and Phenotypic Spectrum of Cytogenetic Abnormalities in Sri Lankan Children

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

The First Sri Lankan Family with Dent Disease-1 Due to a Pathogenic Variant in the CLCN5 Gene: A Case Report

Spectrum of low-density lipoprotein receptor (LDLR) gene mutations in a cohort of Sri Lankan patients with familial hypercholesterolaemia:a preliminary report