Publications

A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1.

Sumathipala, D.S., et al.,

Publication year: 2020

Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report.

Journal Paper

Sumathipala, D., et al.,

Publication year: 2020

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.

Journal Paper

Epting, D., Senaratne, L. D. S., Ott, E., Holmgren, A., Sumathipala, D. et al.,

Publication year: 2020

TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery

Journal Paper

Sumathipala, D., Stromme, P., Gilissen, C., Corominas, J., et al.

Publication year: 2019

A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease.

Kay, C., Collins, J. A., Caron, N. S., Agostinho, L. de A., Findley-Black, H., Casal, L., Sumathipala, D., et al.

Publication year: 2019

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

Books/Book Chapter

Sirisena, D. Sumathipala, K. Wettasinghe, V.H.W. Dissanayake

Publication year: 2016

publication title here

CD/DVD

sample author

Publication year: 2016

homozygous frameshift variant outside the SAND domain of DEAF1 resulting in developmental delay, microcephaly and extrapyramidal symptoms

Conference Paper

Sumathipala D, Holmgren A, Larsen S. M., Misceo D, Frengen E, Strømme P Novel

Publication year: 2016

A Study on Hereditary Thrombophilia and Stroke in a Cohort from Sri Lanka.

Journal Paper

Kalpage, H. A., D. S. Sumathipala, H. W. Goonasekara, and V. H. Dissanayake.

Publication year: 2016

A Study on Hereditary Thrombophilia and Stroke in a Cohort from Sri Lanka.

Journal Paper

3. Kalpage, H.A., Sumathipala, D.S., Goonasekara, H.W., and Dissanayake, V.H.

Publication year: 2016

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

Journal Paper

Shree R Banstola, Nirmala D Sirisena, Dulika S Sumathipala, Vajira H W Dissanayake

Sri Lanka Journal of Child Health, ; 45(4): 247-249

Publication year: 2016

17p11.2 and Xq28 Duplication Detected in a Girl Diagnosed with Potocki-Lupski Syndrome

Journal Paper

Sumathipala, D. S., E. N. Mandawala, S. P. Sumanasena, and V. H. Dissanayake

Publication year: 2015

"Analyzing the Necessity of Prophylactic Antibiotic Usage in Laparoscopy for Uncomplicated Gynecologic Conditions in Sri Lanka

Journal Paper

Jayarathna, Y. R., S. Ranaraja, and D. S. Sumathipala

J Obstet Gynaecol 596-600.

Publication year: 2015

"A Survey of Scientist and Policy Makers' Attitudes toward Research on Stored Human Biological Materials in Sri Lanka.

Journal Paper

Dissanayake, V. H., D. S. Sumathipala, U. G. Kariyawasam, J. M. Jayamanne, P. K. Nisansala, and R. Lie

Publication year: 2015

ssessment of knowledge regarding Pentavalent immunization amongst mothers in the MOH division of Aranayake

Conference Paper

Sumathipala, GRMUGP Jayawardena

Publication year: 2014

Phenotypic Spectrum of Sri Lankan Females with Isochromosome X

Conference Paper

M.A. Jayawardana, D. Sumathipala, R.W. Jayasekara, V.H.W. Dissanayake

Publication year: 2014

Phenotypic characterization of a cohort of patients with – α 7 and – α 4.2 deletions

Conference Paper

Jayawardena SMA, Wettasinghe KT, Sumathipala D, Goonasekera HWW, Dissanayake VHW

Publication year: 2014

Maternally Inherited Unbalanced Chromosomal (1;17) Translocation Presenting as Craniofacial dysmorphism, Developmental Delay, and Multiple Congenital Malformations

Conference Paper

Weerapperuma KND, Mandawala EDN, Sumathipala DS, Dissanayake VHW

Publication year: 2014

Initial report of MECP2 gene mutation in three girls with Rett syndrome in Sri Lanka

Conference Paper

Jayawardena SMA, Sumathipala DS, Hidellage NT, Abeysekara AAGS, Ratnayake PD, Jayasekara RW, Dissanayake VHW

Publication year: 2014

Evaluation of infantile spasm in a cohort of Sri Lankan children with Tuberous Sclerosis Complex

Conference Paper

Senarathne LDS, Oye AM, Selmer KK, Wanigasinghe J, Sumathipala DS, Jayasekara RW, Dissanayake VHW

Publication year: 2014

Effect of using English as the medium of instruction on the academic performance of first year medical undergraduates

Conference Paper

D Sumathipala, C Rodrigo, S Banu, S Rajapakse

Publication year: 2014

Clinical evaluation and genetic study of Tuberous Sclerosis Complex in a cohort of Sri Lankan children

Conference Paper

Senarathne LDS, Oye AM, Selmer KK, Wanigasinghe J, Sumathipala DS, Neththikumara NF, Jayasekara RW, Dissanayake VHW

Publication year: 2014

Clinical evaluation and genetic study of Tuberous Sclerosis Complex in a cohort of Sri Lankan children

Conference Paper

Senarathne LDS, Oye AM, Selmer KK, Wanigasinghe J, Sumathipala DS, Jayasekara RW, Dissanayake VHW.

Publication year: 2014

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

Conference Paper

Dissanayake NDW, Sirisena ND, Sumathipala D, Dissanayake VHW

Publication year: 2014

Clinical and genetic features of Spinal Muscular Atrophy in Sri Lanka

Conference Paper

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

Ceylon Medical Journal 59

Publication year: 2014

A patient with Turner syndrome with a karyotype of 45, X [38]/ 46, X, r (X)[16]

Conference Paper

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

Publication year: 2014

A male infant with partial monosomy of 7p 21 syndrome associated with craniosynostois, craniofacial dysmorphism and non communicating hydrocephalus

Conference Paper

D Wanigasekera, D. Sumathipala, I. Kariyawasam, V. Udalamaththa, V H W Dissanayake

Publication year: 2014

A child with partial trisomy 8p and partial monosomy 11q presenting with dysmorphic features and global developmental delay

Conference Paper

V.L.K. Udalamaththa, U.G.I.U. Kariyawasam, D.S. Sumathipala, M. De Silva, R.W. Jayasekara, V.H.W. Dissanayake

Publication year: 2014

A Case Series of Four Sri Lankan Patients with 5p deletion

Conference Paper

Senaratne LDS, Gautham B, Sumathipala D.S, Sirisena N.D, Jayasekera R.W, Dissanayake V.H.W

Publication year: 2014

Clinical and genetic features of Huntington disease in Sri Lanka

Journal Paper

Sumathipala, D.S., R.W. Jayasekara, and V.H. Dissanayake

Publication year: 2013

Dr. Dulika Sumathipala

Filter by type: