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Year Number of Results
2013 1
2015 1
2017 1
2018 5
2019 5
2021 1
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2025 0

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15 results

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Page 1
Diagnostic Utility of Exome Sequencing for Kidney Disease.
Groopman EE, Marasa M, Cameron-Christie S, Petrovski S, Aggarwal VS, Milo-Rasouly H, Li Y, Zhang J, Nestor J, Krithivasan P, Lam WY, Mitrotti A, Piva S, Kil BH, Chatterjee D, Reingold R, Bradbury D, DiVecchia M, Snyder H, Mu X, Mehl K, Balderes O, Fasel DA, Weng C, Radhakrishnan J, Canetta P, Appel GB, Bomback AS, Ahn W, Uy NS, Alam S, Cohen DJ, Crew RJ, Dube GK, Rao MK, Kamalakaran S, Copeland B, Ren Z, Bridgers J, Malone CD, Mebane CM, Dagaonkar N, Fellström BC, Haefliger C, Mohan S, Sanna-Cherchi S, Kiryluk K, Fleckner J, March R, Platt A, Goldstein DB, Gharavi AG. Groopman EE, et al. Among authors: cameron christie s. N Engl J Med. 2019 Jan 10;380(2):142-151. doi: 10.1056/NEJMoa1806891. Epub 2018 Dec 26. N Engl J Med. 2019. PMID: 30586318 Free PMC article.
Rare variant contribution to human disease in 281,104 UK Biobank exomes.
Wang Q, Dhindsa RS, Carss K, Harper AR, Nag A, Tachmazidou I, Vitsios D, Deevi SVV, Mackay A, Muthas D, Hühn M, Monkley S, Olsson H; AstraZeneca Genomics Initiative; Wasilewski S, Smith KR, March R, Platt A, Haefliger C, Petrovski S. Wang Q, et al. Nature. 2021 Sep;597(7877):527-532. doi: 10.1038/s41586-021-03855-y. Epub 2021 Aug 10. Nature. 2021. PMID: 34375979 Free PMC article.
Rare variant associations with plasma protein levels in the UK Biobank.
Dhindsa RS, Burren OS, Sun BB, Prins BP, Matelska D, Wheeler E, Mitchell J, Oerton E, Hristova VA, Smith KR, Carss K, Wasilewski S, Harper AR, Paul DS, Fabre MA, Runz H, Viollet C, Challis B, Platt A; AstraZeneca Genomics Initiative; Vitsios D, Ashley EA, Whelan CD, Pangalos MN, Wang Q, Petrovski S. Dhindsa RS, et al. Nature. 2023 Oct;622(7982):339-347. doi: 10.1038/s41586-023-06547-x. Epub 2023 Oct 4. Nature. 2023. PMID: 37794183 Free PMC article.
Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.
Burren OS, Dhindsa RS, Deevi SVV, Wen S, Nag A, Mitchell J, Hu F, Loesch DP, Smith KR, Razdan N, Olsson H, Platt A, Vitsios D, Wu Q; AstraZeneca Genomics Initiative; Codd V, Nelson CP, Samani NJ, March RE, Wasilewski S, Carss K, Fabre M, Wang Q, Pangalos MN, Petrovski S. Burren OS, et al. Nat Genet. 2024 Sep;56(9):1832-1840. doi: 10.1038/s41588-024-01884-7. Epub 2024 Aug 27. Nat Genet. 2024. PMID: 39192095 Free PMC article.
Exome-Based Rare-Variant Analyses in CKD.
Cameron-Christie S, Wolock CJ, Groopman E, Petrovski S, Kamalakaran S, Povysil G, Vitsios D, Zhang M, Fleckner J, March RE, Gelfman S, Marasa M, Li Y, Sanna-Cherchi S, Kiryluk K, Allen AS, Fellström BC, Haefliger C, Platt A, Goldstein DB, Gharavi AG. Cameron-Christie S, et al. J Am Soc Nephrol. 2019 Jun;30(6):1109-1122. doi: 10.1681/ASN.2018090909. Epub 2019 May 13. J Am Soc Nephrol. 2019. PMID: 31085678 Free PMC article.
Ethnic Disparity in the Incidence and Outcome of Biliary Atresia in New Zealand.
Evans HM, Asher MI, Cameron-Christie S, Farthing S, McCall J, Robertson SP, Wong H, Morreau PN. Evans HM, et al. Among authors: cameron christie s. J Pediatr Gastroenterol Nutr. 2018 Feb;66(2):218-221. doi: 10.1097/MPG.0000000000001781. J Pediatr Gastroenterol Nutr. 2018. PMID: 29036008
Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.
Bunn KJ, Daniel P, Rösken HS, O'Neill AC, Cameron-Christie SR, Morgan T, Brunner HG, Lai A, Kunst HP, Markie DM, Robertson SP. Bunn KJ, et al. Among authors: cameron christie sr. Am J Hum Genet. 2015 Apr 2;96(4):623-30. doi: 10.1016/j.ajhg.2015.02.010. Epub 2015 Mar 26. Am J Hum Genet. 2015. PMID: 25817014 Free PMC article.
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
Cameron-Christie SR, Wells CF, Simon M, Wessels M, Tang CZN, Wei W, Takei R, Aarts-Tesselaar C, Sandaradura S, Sillence DO, Cordier MP, Veenstra-Knol HE, Cassina M, Ludwig K, Trevisson E, Bahlo M, Markie DM, Jenkins ZA, Robertson SP. Cameron-Christie SR, et al. Am J Hum Genet. 2018 Jun 7;102(6):1115-1125. doi: 10.1016/j.ajhg.2018.04.008. Epub 2018 May 24. Am J Hum Genet. 2018. PMID: 29805041 Free PMC article.
15 results