Publications

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 Journals

Somadasa PKDCT, Sirisena ND, De Silva LSC, Dissanayake, VHW.

Publication year: 2015

A child with hyperlipidemia caused by a novel mutation in LPL gene.

Communications at Scientific Meetings - National

Neththikumara NF, Senanayake MP, Dissanayake VHW.

Publication year: 2015

17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki–Lupski syndrome.

Publications in Peer-Reviewed Journals

Sumathipala DS, Mandawala EM, Sumanasena SP, Dissanayake VHW.

Publication year: 2015

X linked severe combined immunodeficiency mutations reported in Sri Lanka

Communications at Scientific Meetings - National

Weerapperuma KND, Lasheetha D, Kariyawasam KWJC, Dissanayake VHW,

p180

Publication year: 2014

Waardenburg syndrome: A rare genetic eye disorder with iris heterochromia associated with marked facial dysmorphism and pectus excavatum

Communications at Scientific Meetings - International

Weerapperuma KND, Wewalwala D, Dissanayake MM, Dissanayake VHW

Publication year: 2014

Validation of a tetra primer amplification refractory mutation system polymerase chain reaction genotyping assay for cyp2c192 and cyp2c1917 polymorphisms

Communications at Scientific Meetings - National

Godapitiya IUH, Wettasinghe KT, Sirisena UND, Dissanayake VHW.

p174

Publication year: 2014

Validation of a novel genotyping assay for CYP2C9, CYP4F2 and GGCX polymorphisms to predict warfarin maintenance dose

Communications at Scientific Meetings - National

Godapitiya IUH, Wettasinghe KT, Sirisena UND, Dissanayake VHW.

Publication year: 2014

Validation of a multiplex Tetra-primer amplification refractory mutation system (T-ARMS) PCR Assay to Genotype APOE Alleles.

Communications at Scientific Meetings - National

Kidnapillai S, Wettasinghe KT, Sirisena UND, Dissanayake VHW.

Publication year: 2014

Two siblings presenting with dysmorphism, developmental delay and intellectual disability due to partial trisomy 8p and partial monosomy 18p resulting from a maternal balanced translocation t

Communications at Scientific Meetings - International

Kariyawasam UGIU, Sirisena ND, Udalamaththa AVLK, Hidellage NT, Sumanasena S, Jayasekara RW, Dissanayake VHW.

p31

Publication year: 2014

Gunathilake KMD, Sirisena UND, Nisansala PKD, Goonasekera HWW, Jayasekara RW, Dissanayake VHW.

Publications in Peer-Reviewed Journals

The prevalence of the Prothrombin (F2) 20210G>A mutation in a cohort of Sri Lankan patients with thromboembolic disorders.

Publication year: 2014

The microbiome of the placenta in preeclampsia supports the role of bacteria in the multifactorial aetiology of pre-eclampsia.

Publications in Peer-Reviewed Journals

Amarasekara R, Jayasekara RW, Senanayake H, Dissanayake VHW.

Publication year: 2014

SLGVD – A public resource of genetic variations in Sri Lankans

Communications at Scientific Meetings - National

Neththikumara NF, Samaranayake TN, Galhena GH, Samarakoon P, Dissanayake VHW.

p187

Publication year: 2014

Ring chromosome 21 in a child with dysmorphic features.

Communications at Scientific Meetings - National

Kulathunga LAN, Kariyawasam I, Udalamaththa V, Karunaratne HWSS, Senaratne LDS, Sirisena UND, Dissanayake VHW.

p199

Publication year: 2014

Prevalence of prothrombin G20210A mutation in a cohort of Sri Lankan patients with thrombo-embolic disorders referred for thrombophilia screening

Communications at Scientific Meetings - National

Gunathilake KMD, Kariyawasam UGIU, Sirisena UND, Nisansala PKD, Goonasekara HG, Jayasekara RW, Dissanayake VHW.

Ceylon Medical Journal 2014, 59 (suppl 1):77-8).

Publication year: 2014

Prevalence of MTHFR 677C>T (rs1801133) gene polymorphism in patients referred for thrombophilia screening in Sri Lanka

Communications at Scientific Meetings - National

Kulathunga LAN, Sirisena UND, Goonasekera HWW, Nisansala PKD, Jayasekera RW, Dissanayake VHW.

Ceylon Medical Journal 2014, 59 (suppl 1):32).

Publication year: 2014

Prevalence of lumbar spondylolisthesis and associated radiographic features in a cohort of patients with chronic mechanical low back pain

Communications at Scientific Meetings - National

Perera GLRS, Wijayarathna LS, Senarath U, Dissanayake PH, Karunanayake AL, Dissanayake VHW.

p46

Publication year: 2014

Prevalence of HLA-B27 allele in a cohort of Sri Lankan patients referred for suspected spondyloarthritides

Communications at Scientific Meetings - National

Kidnapillai S, Sirisena UND, Dissanayake VHW.

Ceylon Medical Journal 2014, 59 (Suppl 1):76).

Publication year: 2014

Prevalence of haemoglobin beta gene mutations in a cohort of Sri Lankan patients referred for β Thalassaemia Screening

Communications at Scientific Meetings - National

Jeerasinghe PB, Sirisena UND, Jayasekara RW, Dissanayake VHW.

Ceylon Medical Journal 2014, 59 (suppl 1):31).

Publication year: 2014

Prevalence of Factor V Leiden polymorphism in Sri Lankan patients referred for Thrombophilia screening

Communications at Scientific Meetings - National

Godapitiya IUH, Sirisena UND, Goonasekera HWW, Nisansala PKD, Jayasekara RW, VHW Dissanayake.

Ceylon Medical Journal 2014, 59 (suppl 1):31-2).

Publication year: 2014

Polymorphisms in the fibrinolytic pathway genes and the risk of recurrent miscarriage.

Publications in Peer-Reviewed Journals

Andraweera PH, Dekker GA, Thompson SD, Nowak RC, Jayasekara RW, Dissanayake VHW, Roberts CT.

Publication year: 2014

Polymorphism in the Epidermal Growth Factor (EGF) gene is associated with pre-eclampsia and low birth weight.

Publications in Peer-Reviewed Journals

Chenthuran T, Harendra GG, Jayasekara RW, Dissanayake VHW.

Publication year: 2014

Phenotypic spectrum of Sri Lankan females with Isochromosome X

Communications at Scientific Meetings - International

Jayawardana SMA, Sumathipala D, Nisansala PKDS, Jayasekara RW, Dissanayake VHW.

p33

Publication year: 2014

Phenotypic characterization of retinitis pigmentosa patients presenting at an ophthalmo-genetic clinic in Sri Lanka

Communications at Scientific Meetings - International

Weerapperuma KND, Dissanayake MM, Wijayasiriwardana W, Amarasinghe B, Dissanayake VHW

Publication year: 2014

Phenotypic characteristics of a cohort of patients with –α7 and –α4.2 deletions

Communications at Scientific Meetings - National

Jayawardana SMA, Wetthasinghe TK, Sumathipala D, Goonasekera HWW, Dissanayake VHW.

p137

Publication year: 2014

Phenotypes of genetic eye disorders in Sri Lanka

Communications at Scientific Meetings - National

Weerapperuma KND, Dissanayake MM, Irugalbandara D, Abeysekera H, Amarasinghe B, Wewalwala D, Wijayasiriwardana W, Dissanayake VHW.

p181

Publication year: 2014

Phenotype of partial trisomy of chromosome 8(p21→pter) and partial monosomy of chromosome 11(q25→qter); A case of dysmorphic features and global developmental delay

Communications at Scientific Meetings - International

Udalamaththa AVLK, Kariyawasam UGIU, Sumathipala DS, De Silva M, Jayasekara RW, Dissanayake VHW.

p37

Publication year: 2014

Paternally inherited chromosomal translocation (8;11) in a child with dysmorphic features and seizures

Communications at Scientific Meetings - National

Gautam B, Udalamaththa AVLK, Kariyawasam UGIU, Sirisena UND, Dissanayake VHW.

p204

Publication year: 2014

Partial monosomy of the long arm of chromosome 13 involving 13q32 band: a case report

Communications at Scientific Meetings - National

Kidnapillai S, Kariyawasam UGIU, Sirisena UND, Dissanayake VHW.

p207

Publication year: 2014

Novel Breast Cancer Susceptibility Gene (BRCA1) mutations in Sri Lankan Families with Hereditary Breast and Ovarian Cancer Syndrome

Communications at Scientific Meetings - National

Gautam B, Sirisena ND, Dissanayake NDW, Jayasekara RW, Dissanayake VHW.

Ceylon Medical Journal 2014, 59 (suppl 1):79).

Publication year: 2014

Molecular- cytogenetic analysis of a ring chromosome 18 in a Sri Lankan female child with congenital malformation, heart defects and global developmental delay

Communications at Scientific Meetings - National

Somadasa PKDCT, Udalamaththa AVLK, Kariyawasam UGIU, Jayawardana SMA, Sirisena UND, Dissanayake VHW.

p200

Publication year: 2014

Vidya Jyothi Prof. Vajira H.W. Dissanayake

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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.

A child with hyperlipidemia caused by a novel mutation in LPL gene.

17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki–Lupski syndrome.

X linked severe combined immunodeficiency mutations reported in Sri Lanka

Waardenburg syndrome: A rare genetic eye disorder with iris heterochromia associated with marked facial dysmorphism and pectus excavatum

Validation of a tetra primer amplification refractory mutation system polymerase chain reaction genotyping assay for cyp2c192 and cyp2c1917 polymorphisms

Validation of a novel genotyping assay for CYP2C9, CYP4F2 and GGCX polymorphisms to predict warfarin maintenance dose

Validation of a multiplex Tetra-primer amplification refractory mutation system (T-ARMS) PCR Assay to Genotype APOE Alleles.

Two siblings presenting with dysmorphism, developmental delay and intellectual disability due to partial trisomy 8p and partial monosomy 18p resulting from a maternal balanced translocation t

Gunathilake KMD, Sirisena UND, Nisansala PKD, Goonasekera HWW, Jayasekara RW, Dissanayake VHW.

The microbiome of the placenta in preeclampsia supports the role of bacteria in the multifactorial aetiology of pre-eclampsia.

SLGVD – A public resource of genetic variations in Sri Lankans

Ring chromosome 21 in a child with dysmorphic features.

Prevalence of prothrombin G20210A mutation in a cohort of Sri Lankan patients with thrombo-embolic disorders referred for thrombophilia screening

Prevalence of MTHFR 677C>T (rs1801133) gene polymorphism in patients referred for thrombophilia screening in Sri Lanka

Prevalence of lumbar spondylolisthesis and associated radiographic features in a cohort of patients with chronic mechanical low back pain

Prevalence of HLA-B27 allele in a cohort of Sri Lankan patients referred for suspected spondyloarthritides

Prevalence of haemoglobin beta gene mutations in a cohort of Sri Lankan patients referred for β Thalassaemia Screening

Prevalence of Factor V Leiden polymorphism in Sri Lankan patients referred for Thrombophilia screening

Polymorphisms in the fibrinolytic pathway genes and the risk of recurrent miscarriage.

Polymorphism in the Epidermal Growth Factor (EGF) gene is associated with pre-eclampsia and low birth weight.

Phenotypic spectrum of Sri Lankan females with Isochromosome X

Phenotypic characterization of retinitis pigmentosa patients presenting at an ophthalmo-genetic clinic in Sri Lanka

Phenotypic characteristics of a cohort of patients with –α7 and –α4.2 deletions

Phenotypes of genetic eye disorders in Sri Lanka

Phenotype of partial trisomy of chromosome 8(p21→pter) and partial monosomy of chromosome 11(q25→qter); A case of dysmorphic features and global developmental delay

Paternally inherited chromosomal translocation (8;11) in a child with dysmorphic features and seizures

Partial monosomy of the long arm of chromosome 13 involving 13q32 band: a case report

Novel Breast Cancer Susceptibility Gene (BRCA1) mutations in Sri Lankan Families with Hereditary Breast and Ovarian Cancer Syndrome

Molecular- cytogenetic analysis of a ring chromosome 18 in a Sri Lankan female child with congenital malformation, heart defects and global developmental delay