| Diagnostic utility of exome sequencing for kidney disease EE Groopman, M Marasa, S Cameron-Christie, S Petrovski, VS Aggarwal, ... New England Journal of Medicine 380 (2), 142-151, 2019 | 704 | 2019 |
| Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome KJ Bunn, P Daniel, HS Rösken, AC O’Neill, SR Cameron-Christie, ... The American Journal of Human Genetics 96 (4), 623-630, 2015 | 98 | 2015 |
| Interspecific hybridization causes long‐term phylogenetic discordance between nuclear and mitochondrial genomes in freshwater fishes GP Wallis, SR Cameron‐Christie, HL Kennedy, G Palmer, TR Sanders, ... Molecular Ecology 26 (12), 3116-3127, 2017 | 82 | 2017 |
| Exome-Based Rare-Variant Analyses in CKD S Cameron-Christie, CJ Wolock, E Groopman, S Petrovski, ... Journal of the American Society of Nephrology 30 (6), 1109-1122, 2019 | 53 | 2019 |
| Ancient mitogenomes of Phoenicians from Sardinia and Lebanon: A story of settlement, integration, and female mobility E Matisoo-Smith, AL Gosling, D Platt, O Kardailsky, S Prost, ... PloS one 13 (1), e0190169, 2018 | 44 | 2018 |
| Recessive Spondylocarpotarsal synostosis syndrome due to compound heterozygosity for variants in MYH3 SR Cameron-Christie, CF Wells, M Simon, M Wessels, CZN Tang, W Wei, ... The American Journal of Human Genetics 102 (6), 1115-1125, 2018 | 32 | 2018 |
| Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery–Dreifuss muscular dystrophy plus phenotype HR Tiffin, ZA Jenkins, MJ Gray, SR Cameron-Christie, J Eaton, S Aftimos, ... Neurogenetics 14 (2), 113-121, 2013 | 25 | 2013 |
| Mitogenomic evidence of close relationships between New Zealand’s extinct giant raptors and small-sized Australian sister-taxa M Knapp, JE Thomas, J Haile, S Prost, SYW Ho, N Dussex, ... Molecular phylogenetics and evolution 134, 122-128, 2019 | 23 | 2019 |
| Ethnic disparity in the incidence and outcome of biliary atresia in New Zealand HM Evans, MI Asher, S Cameron-Christie, S Farthing, J McCall, ... Journal of pediatric gastroenterology and nutrition 66 (2), 218-221, 2018 | 19 | 2018 |
| Missense pathogenic variants in KIF4A affect dental morphogenesis resulting in X-linked taurodontism, microdontia and dens-invaginatus LJJ Gowans, S Cameron-Christie, RL Slayton, T Busch, ... Frontiers in Genetics, 800, 2019 | 18 | 2019 |
| Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family SR Cameron-Christie, J Wilde, A Gray, R Tankard, M Bahlo, D Markie, ... BMC medical genomics 11 (1), 1-13, 2018 | 8 | 2018 |
| A broad exome study of the genetic architecture of asthma reveals novel patient subgroups S Cameron-Christie, A Mackay, Q Wang, H Olsson, B Angermann, ... bioRxiv, 2020 | 5 | 2020 |
| A population history of Tokelau–genetic variation and change in atoll populations AL Gosling, E Lord, J Boocock, S Cameron-Christie, KA Horsburgh, ... The Journal of Island and Coastal Archaeology, 1-18, 2021 | 1 | 2021 |
| A Rare IL-33 Loss-of-Function Splice Variant Protects Against Early Onset Asthma ML Gavala, S Cameron-Christie, J Wang, B Angermann, D Muthas, ... A32. ASTHMA CLINICAL STUDIES, A1337-A1337, 2020 | 1 | 2020 |
| Estimation of penetrance for known gene-phenotype relationships using large-scale exome sequencing data in 394K UK Biobank participants A Nag, A Harper, Q Wang, S Cameron-Christie, K Carss, S Petrovski EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 64-65, 2022 | | 2022 |
| A comprehensive exome study of the genetic architecture of asthma reveals a putative novel patient subgroup defined by filaggrin truncating variants SR Cameron-Christie, H Olsson, A Mackay, Q Wang, M Huhn, D Muthas, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 77-78, 2020 | | 2020 |
| Filaggrin Truncating Variants Identify a New Subgroup of Children at Risk of Developing Asthma, Irrespective of Allergy Status M Hühn, S Cameron-Christie, H Olsson, Q Wang, D Muthas, G Lassi, ... C21. ADVANCES IN ADULT AND PEDIATRIC ASTHMA PHENOTYPING AND ENDOTYPING …, 2020 | | 2020 |
| Gene-set burden analysis detects novel signals in whole exome sequencing of a chronic kidney disease cohort SR Cameron-Christie, J Fleckner, RE March, A Platt, C Haefliger, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1693-1693, 2019 | | 2019 |
| Recessive spondylocarpotarsal syndrome due to compound heterozygosity for variants in MYH3 SP Robertson, S Cameron-Christie, CF Wells, M Simon, M Wessels, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 821-821, 2019 | | 2019 |
| The Genetics of Familial Biliary Atresia in a New Zealand Iwi SR Cameron-Christie University of Otago, 2016 | | 2016 |