Publications

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

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

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

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

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 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

An Infant Born to a Mother with Gestational Diabetes Presenting with 49,XXXXY Syndrome and Renal Agenesis-A Case Report

Journal Paper

Sumathipala, D., Gamage,T., Wijesiriwardena, B., Jayasekara, R., Dissanayake V. H. W

Publication year: 2012

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

Autosomal dominant hereditary ataxia in Sri Lanka. BMC Neurology

Journal Paper

Sumathipala DS, Abeysekara AAGS, Jayasekara RW, Tallaksen CME, Dissanayake VHW

Publication year: 2013

"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

"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

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

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

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

The analysis of risk factors for age related cataracts 2006

Conference Paper

Sumathipala DS, Wijerathne R, Sarabavananda S

Publication year: 2006

The assessment of the prevalence of psychological dysfunction amongst chronically ill children, as perceived by parents of the children

Conference Paper

Sumathipala DS

Publication year: 2006