| Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease G Trynka, KA Hunt, NA Bockett, J Romanos, V Mistry, A Szperl, SF Bakker, ... Nature genetics 43 (12), 1193-1201, 2011 | 971 | 2011 |
| Identification of type 1 diabetes–associated DNA methylation variable positions that precede disease diagnosis VK Rakyan, H Beyan, TA Down, MI Hawa, S Maslau, D Aden, A Daunay, ... PLoS genetics 7 (9), e1002300, 2011 | 397 | 2011 |
| A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures VA Gennarino, EE Palmer, LM McDonell, L Wang, CJ Adamski, A Koire, ... Cell 172 (5), 924-936. e11, 2018 | 133 | 2018 |
| Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: evidence of clinical utility and cost effectiveness EE Palmer, D Schofield, R Shrestha, T Kandula, R Macintosh, JA Lawson, ... Molecular genetics & genomic medicine 6 (2), 186-199, 2018 | 107 | 2018 |
| Microbial community analysis of human decomposition on soil RA Parkinson, KR Dias, J Horswell, P Greenwood, N Banning, M Tibbett, ... Criminal and environmental soil forensics, 379-394, 2009 | 91 | 2009 |
| Asparagine synthetase deficiency causes reduced proliferation of cells under conditions of limited asparagine EE Palmer, J Hayner, R Sachdev, M Cardamone, T Kandula, P Morris, ... Molecular genetics and metabolism 116 (3), 178-186, 2015 | 61 | 2015 |
| Germline AGO2 mutations impair RNA interference and human neurological development D Lessel, DM Zeitler, MRF Reijnders, A Kazantsev, F Hassani Nia, ... Nature communications 11 (1), 5797, 2020 | 58 | 2020 |
| Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry KA Hunt, DJ Smyth, T Balschun, M Ban, V Mistry, T Ahmad, V Anand, ... Nature genetics 44 (1), 3-5, 2012 | 53 | 2012 |
| A de novo mutation in the sodium-activated potassium channel KCNT2 alters ion selectivity and causes epileptic encephalopathy S Gururaj, EE Palmer, GD Sheehan, T Kandula, R Macintosh, K Ying, ... Cell reports 21 (4), 926-933, 2017 | 45 | 2017 |
| Comparison of whole-exome sequencing of matched fresh and formalin fixed paraffin embedded melanoma tumours: implications for clinical decision making R De Paoli-Iseppi, PA Johansson, AM Menzies, KR Dias, GM Pupo, ... Pathology 48 (3), 261-266, 2016 | 45 | 2016 |
| Wellcome Trust Case Control Consortium (WTCCC) G Trynka, KA Hunt, NA Bockett, J Romanos, V Mistry, A Szperl, SF Bakker, ... Thelma BK, Cukrowska B, Urcelay E, Bilbao JR, Mearin ML, Barisani D, Barrett …, 2011 | 37 | 2011 |
| A simple and novel method for RNA‐seq library preparation of single cell cDNA analysis by hyperactive Tn5 transposase S Brouilette, S Kuersten, C Mein, M Bozek, A Terry, KR Dias, ... Developmental Dynamics 241 (10), 1584-1590, 2012 | 30 | 2012 |
| Spanish Consortium on the Genetics of Coeliac Disease (CEGEC) PreventCD Study Group. Wellcome Trust Case Control Consortium (WTCCC) Dense genotyping identifies and localizes … G Trynka, KA Hunt, NA Bockett, J Romanos, V Mistry, A Szperl, SF Bakker, ... Nat. Genet 43, 1193-1201, 2011 | 20 | 2011 |
| Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome SEM Stephenson, G Costain, LER Blok, MA Silk, TB Nguyen, X Dong, ... The American Journal of Human Genetics 109 (4), 601-617, 2022 | 19 | 2022 |
| Clinically responsive genomic analysis pipelines: elements to improve detection rate and efficiency SL Sundercombe, M Berbic, CA Evans, C Cliffe, G Elakis, SEL Temple, ... The Journal of Molecular Diagnostics 23 (7), 894-905, 2021 | 10 | 2021 |
| De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations KR Dias, CM Carlston, LER Blok, L De Hayr, U Nawaz, CA Evans, ... Genetics in Medicine 24 (9), 1952-1966, 2022 | 6 | 2022 |
| Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant C Forwood, K Ashton, Y Zhu, F Zhang, KR Dias, K Standen, CA Evans, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2023 | 4 | 2023 |
| The forensic characterisation of the soil microbial community in response to cadaver decomposition KR Dias University of Western Australia, 2011 | 4 | 2011 |
| De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders Y Chen, R Dawes, HC Kim, SL Stenton, S Walker, A Ljungdahl, J Lord, ... medRxiv, 2024 | 3 | 2024 |
| De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues DJ Smits, R Schot, CA Popescu, KR Dias, L Ades, LC Briere, ... Human Genetics 142 (7), 949-964, 2023 | 3 | 2023 |
