Publications - Journal Paper

Publication Types:

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

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