Dr. Dulika Sumathipala
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Publications
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All types ( 43 )
Books/Book Chapter ( 1 )
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Conference Paper ( 27 )
Journal Paper ( 12 )
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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
Haemolysis precipitated by pregnancy: a rare presentation of Hereditory Spherocytosis
Conference Paper
Sumathipala WLDS, Wijeyratne CN
Publication year: 2008
Metabolic correlates of a cohort of Sri Lankan women with polycystic ovary syndrome (PCOS) attending a tertiary care clinic
Conference Paper
Sumathipala WLDS, Wijeyratne CN
Publication year: 2008
Management outcomes in women with polycystic ovary syndrome (PCOS) attending a tertiary care clinic; preliminary results
Conference Paper
Sumathipala WLDS, Wijeyratne CN
Publication year: 2008
Prevalence of Non alcoholic fatty liver disease (NAFLD)in polycystic ovary syndrome (PCOS)
Conference Paper
Sumathipala WLDS, Wijeyratne CN
Publication year: 2009
Prevalence of metabolic syndromes (MetS) among phenotypic subgroups of polycystic ovary syndrome (PCOS): analyst of a large cohort attending specialist endocrine care
Conference Paper
Sumathipala WLDS, Wijeyratne CN
Publication year: 2009
Is there a relationship between rainfall and incidence of Dengue fever?
Conference Paper
BMWDS Hemamali, WLDS Sumathipala
Publication year: 2011
Molecular and clinical characterization of autosomal dominant ataxia in Sri Lanka
Conference Paper
Sumathipala, D., Madushanka, D. B. R., Abeysekara, A. A. G. S., Jayasekara, R., Tallaksen, C., Dissanayake V. H
Publication year: 2012
Clinical and Molecular genetic features of Huntington’s disease in Sri Lanka
Conference Paper
Sumathipala, D., Jayasekara, R., Dissanayake V. H. W
Publication year: 2012
A descriptive study of pattern of hereditary neurological disorders seen in a genetic clinic in Colombo, Sri Lanka
Conference Paper
Sumathipala, D., Jayasekara, R., Dissanayake V. H. W
Publication year: 2012
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
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 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
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
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
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