| Ensembl 2022 F Cunningham, JE Allen, J Allen, J Alvarez-Jarreta, MR Amode, ... Nucleic acids research 50 (D1), D988-D995, 2022 | 1343 | 2022 |
| Ensembl 2023 FJ Martin, MR Amode, A Aneja, O Austine-Orimoloye, AG Azov, I Barnes, ... Nucleic acids research 51 (D1), D933-D941, 2023 | 261 | 2023 |
| GENCODE: reference annotation for the human and mouse genomes in 2023 A Frankish, S Carbonell-Sala, M Diekhans, I Jungreis, JE Loveland, ... Nucleic acids research 51 (D1), D942-D949, 2023 | 78 | 2023 |
| A comprehensive haplotype-targeting strategy for allele-specific HTT suppression in Huntington disease C Kay, JA Collins, NS Caron, L de Andrade Agostinho, H Findlay-Black, ... The American Journal of Human Genetics 105 (6), 1112-1125, 2019 | 26 | 2019 |
| Ensembl F Cunningham, JE Allen, J Allen, J Alvarez-Jarreta, MR Amode, ... Nucleic Acids Res 50 (1), 988-995, 2022 | 21 | 2022 |
| Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome D Epting, LDS Senaratne, E Ott, A Holmgren, D Sumathipala, SM Larsen, ... Human mutation 41 (12), 2179-2194, 2020 | 15 | 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 … D Sumathipala, P Strømme, C Gilissen, J Corominas, E Frengen, ... Pediatric Neurology 96, 74-75, 2019 | 15 | 2019 |
| Autosomal dominant hereditary ataxia in Sri Lanka DS Sumathipala, GS Abeysekera, RW Jayasekara, CME Tallaksen, ... BMC neurology 13, 1-6, 2013 | 14 | 2013 |
| A Study on Hereditary Thrombophilia and Stroke in a Cohort from Sri Lanka HA Kalpage, DS Sumathipala, HW Goonasekara, VH Dissanayake Journal of Stroke and Cerebrovascular Diseases 25 (1), 102-109, 2016 | 11 | 2016 |
| Clinical and genetic features of Huntington disease in Sri Lanka DS Sumathipala, RW Jayasekara, VHW Dissanayake BMC neurology 13, 1-5, 2013 | 11 | 2013 |
| ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences D Sumathipala, P Strømme, Z Fattahi, T Lüders, Y Sheng, K Kahrizi, ... Brain 145 (7), 2602-2616, 2022 | 7 | 2022 |
| 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 D Sumathipala, P Strømme, C Gilissen, IH Einarsen, HJ Bjørndalen, ... BMC Medical Genetics 21, 1-6, 2020 | 6 | 2020 |
| 17p11. 2 and Xq28 duplication detected in a girl diagnosed with Potocki–Lupski syndrome DS Sumathipala, EN Mandawala, SP Sumanasena, VHW Dissanayake BMC Research Notes 8, 1-3, 2015 | 6 | 2015 |
| An infant born to a mother with gestational diabetes presenting with 49, XXXXY syndrome and renal agenesis-a case report D Sumathipala, T Gamage, B Wijesiriwardena, RW Jayasekara, ... Journal of Clinical Research in Pediatric Endocrinology 4 (4), 223, 2012 | 6 | 2012 |
| Analyzing the necessity of prophylactic antibiotic usage in laparoscopy for uncomplicated gynecologic conditions in S ri L anka YRJ Jayarathna, S Ranaraja, DS Sumathipala Journal of Obstetrics and Gynaecology Research 41 (4), 596-600, 2015 | 5 | 2015 |
| The provision of medical and health genetics and genomics in the developing world N Sirisena, D Sumathipala, K Wettasinghe, VHW Dissanayake Medical and health genomics, 285-294, 2016 | 4 | 2016 |
| A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1 DS Sumathipala, D Misceo, SM Larsen, T Barøy, TH Gamage, E Frengen, ... Clinical Dysmorphology 29 (2), 107-110, 2020 | 3 | 2020 |
| A Survey of Scientist and Policy M akers' Attitudes Toward Research on Stored Human Biological Materials in S ri L anka VHW Dissanayake, DS Sumathipala, U Kariyawasam, J Jayamanne, ... Developing World Bioethics 15 (3), 226-232, 2015 | 2 | 2015 |
| A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis D Misceo, L Lirussi, P Strømme, D Sumathipala, A Guerin, NI Wolf, ... Brain 146 (8), 3513-3527, 2023 | 1 | 2023 |
| Comparison of the International Association of the Diabetes and Pregnancy Study Group (IADPSG) criteria for diagnosis of gestational diabetes mellitus against a ‘one-stop … GRMU Jayawardena, K Guruparan, D Sumathipala, UD Ratnasiri, ... Authorea Preprints, 2020 | | 2020 |
