Peer Reviewed Presentations Published as Abstracts

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

Peer Reviewed - National

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

Publication year: 2014

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

Peer Reviewed - National

Kidnapillai S, Kariyawasam UGIU, Sirisena UND, Dissanayake VHW

Publication year: 2014

Novel breast cancer susceptibility gene (BRCA1) mutations in Sri Lankan families with hereditary breast and ovarian cancer syndrome

Peer Reviewed Presentations Published as Abstracts

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

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

Peer Reviewed - National

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

Publication year: 2014

olecular cytogenetic characterization of the first reported Sri Lankan child with a de novo 9p inverted duplication (p13.3; p23)

Peer Reviewed - National

Godapitiya IUH, Kariyawasam I, Udalamaththa V, Sirisena UND, Dissanayake VHW

Publication year: 2014

Implementation of an allele specific amplification refractory mutation system polymerase chain reaction (AS-ARMS PCR) genotyping assay for the 1173C>T polymorphism in the VKORC1 gene

Peer Reviewed - National

Kulathunga LAN, Wettasinghe KT, Sirisena UND, Dissanayake VHW

Publication year: 2014

Determination of frequency of HLA-B1502 allele carriers in a cohort of Sri Lankans by HLA-B1502 sequence specific polymerase chain reaction

Peer Reviewed - National

Gunathilake KMD, Wettasinghe KT, Sirisena UND, Dissanayake VHW

Publication year: 2014

Design and implementation of novel allele specific multiplex polymerase chain reaction assay to genotype exon 19 deletion and L858R mutation in the EGFR gene in patients with non-small cell lung carcinoma

Peer Reviewed - National

Gautam B, Wetthasinghe TK, Sirisena UND, Dissanayake VHW

Publication year: 2014

Design and implementation of allele specific polymerase chain reaction (AS-PCR) assay to Genotype the V600E mutation in the BRAF gene

Peer Reviewed - National

Banstola SR, Wettasinghe TK, Sirisena UND, Dissanayake VHW

Publication year: 2014

Design and implementation of a polymerase chain reaction (PCR) test to genotype the CCR5 delta 32 base pairs deletion

Peer Reviewed - National

Wetthasinghe TK, Banstola SR, Sirisena UND, Dissanayake VHW

Publication year: 2014

Design and implementation of a new assay to genotype 460G>A and 719A>G polymorphisms in the Thiopurine S-methyltransferase (TPMT) gene

Peer Reviewed - National

Jeerasinghe PB, Wettasinghe KT, Sirisena ND, Dissanayake VHW

Publication year: 2014

Design and implementation of a new assay for genotyping pharmocogenomicaly important Cytochrome P450 2D6 (CYP 2D6) gene variants

Peer Reviewed - National

Somadasa PKDCT, Wettasinghe KT, Sirisena UND, Dissanayake VHW

Publication year: 2014

Clinical characterization of a cohort of Sri Lankan families with inherited cancer syndromes

Peer Reviewed - National

Dissanayake NDW, Sirisena ND, Sumathipala D, Dissanayake VHW

Publication year: 2014

Clinical and genetic features of Spinal Muscular Atrophy in Sri Lanka

Peer Reviewed Presentations Published as Abstracts

SR Banstola, ND Sirisena, DS Sumathipala, VHW Dissanayake, RW Jayasekara

Publication year: 2014

Clinical and genetic characterization of Androgen Receptor (AR) gene mutations in a cohort of Sri Lankan patients with 46,XY Disorders of Sex Development

Peer Reviewed Presentations Published as Abstracts

Sirisena ND, Abeysekara AAGS, de Silva KSH, Jayasekara RW, Dissanayake VHW

Publication year: 2014

Child with a novel homozygous mutation in the Treacher Collins-Franceschetti syndrome 1 (TCOF1) gene presenting with ambiguous genitalia, cranio-facial dysmorphism and multiple congenital malformations

Peer Reviewed - National

Sirisena UND, McElreavey K, Bashamboo A, de Silva KSH, Jayasekara RW, Dissanayake VHW

Publication year: 2014

Child with a Homozygous Mutation in the Treacher Collins-Franceschetti Syndrome 1 gene (TCOF1) Presenting with Ambiguous Genitalia, Cranio-facial Dysmorphism and Multiple Congenital Malformations

Peer Reviewed Presentations Published as Abstracts

Nirmala D. Sirisena, Kenneth McElreavey, Anu Bashamboo, K.S.H. de Silva, Rohan W. Jayasekara, Vajira H.W. Dissanayake

Publication year: 2014

BRCA1 mutation in three Sri Lankan families with hereditary breast and ovarian cancer syndrome

Peer Reviewed Presentations Published as Abstracts

Gautam B, Sirisena UND, Dissanayake NDW, Dissanayake VHW

Publication year: 2014

A patient with Turner Syndrome with a karyotype of 45,X[38]/46,X,r(X)[16]. University of Colombo Research Symposium 2014

Peer Reviewed - National

Gunathilake KMD, Kariyawasam UGIU, Udalamaththa AVLK, Sumathipala DS, Sirisena UND, Dissanayake VHW

Publication year: 2014

A maternally inherited partial trisomy 1q (q44qter) and partial trisomy 15 (pterq22) in a child with Silver Russell & Partial trisomy 15q Syndrome

Peer Reviewed - National

Jeerasinghe PB, Sirisena ND, Kariyawasam I, Udalamaththa V, Dissanayake VHW

Publication year: 2014

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

Peer Reviewed Presentations Published as Abstracts

Sirisena ND, McElreavey K, Bashamboo A, de Silva KSH, Jayasekara RW, Dissanayake VHW

Publication year: 2014

A case series of four Sri Lankan patients with 5p deletion. International Conference on Birth Defects 2014, Colombo, Sri Lanka

Peer Reviewed Presentations Published as Abstracts

Senaratne LDS, Gautham B, Sumathipala DS, Sirisena ND, Jayasekera RW, Dissanayake VHW

Publication year: 2014

A case report of a patient with mosaicism for ring chromosome 6 and monosomy 6 cell lines: FOXC1 gene deletion with no associated eye anomalies

Peer Reviewed - National

Banstola SR, Udalamaththa AVLK, Kariyawasam UGIU, Sirisena UND, Dissanayake VHW

Publication year: 2014

A novel de novomutation in the aristaless domain of the ARX gene in a Sri Lankan male child with acquired microcephaly, psychomotor delay and ambiguous genitalia

Peer Reviewed Presentations Published as Abstracts

Sirisena ND, McElreavey KM, Bashamboo A, Jayasekara RW, Dissanayake VHW

Publication year: 2013

Phenotypic features in a cohort of patients with 46, XY disorder of sex development (46,XY DSD) in Sri Lanka

Peer Reviewed Presentations Published as Abstracts

Sirisena UND, De Silva S, Jayasekara RW, Dissanayake VHW

Ceylon Medical Journal 2012, 57 (supple 1):92).

Publication year: 2012

Clinical and molecular genetic studies in a cohort of Sri Lankan patients with 46,XY disorder of sex development (46,XY DSD).

Peer Reviewed Presentations Published as Abstracts

Sirisena UND, De Silva S, Abeysekara AAGS, Jayasekara RW, Dissanayake VHW

Ceylon Medical Journal 2012, 57 (supple 1):94

Publication year: 2012

A descriptive study of children with ambiguous genitalia in SriLanka

Peer Reviewed Presentations Published as Abstracts

Sirisena UND, Jayasekera RW, Dissanayake VHW.

Publication year: 2011

Prof. Nirmala Sirisena

Publication Types:

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

olecular cytogenetic characterization of the first reported Sri Lankan child with a de novo 9p inverted duplication (p13.3; p23)

Implementation of an allele specific amplification refractory mutation system polymerase chain reaction (AS-ARMS PCR) genotyping assay for the 1173C>T polymorphism in the VKORC1 gene

Determination of frequency of HLA-B1502 allele carriers in a cohort of Sri Lankans by HLA-B1502 sequence specific polymerase chain reaction

Design and implementation of novel allele specific multiplex polymerase chain reaction assay to genotype exon 19 deletion and L858R mutation in the EGFR gene in patients with non-small cell lung carcinoma

Design and implementation of allele specific polymerase chain reaction (AS-PCR) assay to Genotype the V600E mutation in the BRAF gene

Design and implementation of a polymerase chain reaction (PCR) test to genotype the CCR5 delta 32 base pairs deletion

Design and implementation of a new assay to genotype 460G>A and 719A>G polymorphisms in the Thiopurine S-methyltransferase (TPMT) gene

Design and implementation of a new assay for genotyping pharmocogenomicaly important Cytochrome P450 2D6 (CYP 2D6) gene variants

Clinical characterization of a cohort of Sri Lankan families with inherited cancer syndromes

Clinical and genetic features of Spinal Muscular Atrophy in Sri Lanka

Clinical and genetic characterization of Androgen Receptor (AR) gene mutations in a cohort of Sri Lankan patients with 46,XY Disorders of Sex Development

Child with a novel homozygous mutation in the Treacher Collins-Franceschetti syndrome 1 (TCOF1) gene presenting with ambiguous genitalia, cranio-facial dysmorphism and multiple congenital malformations

Child with a Homozygous Mutation in the Treacher Collins-Franceschetti Syndrome 1 gene (TCOF1) Presenting with Ambiguous Genitalia, Cranio-facial Dysmorphism and Multiple Congenital Malformations

BRCA1 mutation in three Sri Lankan families with hereditary breast and ovarian cancer syndrome

A patient with Turner Syndrome with a karyotype of 45,X[38]/46,X,r(X)[16]. University of Colombo Research Symposium 2014

A maternally inherited partial trisomy 1q (q44qter) and partial trisomy 15 (pterq22) in a child with Silver Russell & Partial trisomy 15q Syndrome

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

A case series of four Sri Lankan patients with 5p deletion. International Conference on Birth Defects 2014, Colombo, Sri Lanka

A case report of a patient with mosaicism for ring chromosome 6 and monosomy 6 cell lines: FOXC1 gene deletion with no associated eye anomalies

A novel de novomutation in the aristaless domain of the ARX gene in a Sri Lankan male child with acquired microcephaly, psychomotor delay and ambiguous genitalia

Phenotypic features in a cohort of patients with 46, XY disorder of sex development (46,XY DSD) in Sri Lanka

Clinical and molecular genetic studies in a cohort of Sri Lankan patients with 46,XY disorder of sex development (46,XY DSD).

A descriptive study of children with ambiguous genitalia in SriLanka