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Items: 10

1.

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.

J Am Soc Nephrol. 2019 Jun;30(6):1109-1122. doi: 10.1681/ASN.2018090909. Epub 2019 May 13.

PMID:
31085678
2.

Mitogenomic evidence of close relationships between New Zealand's extinct giant raptors and small-sized Australian sister-taxa.

Knapp M, Thomas JE, Haile J, Prost S, Ho SYW, Dussex N, Cameron-Christie S, Kardailsky O, Barnett R, Bunce M, Gilbert MTP, Scofield RP.

Mol Phylogenet Evol. 2019 May;134:122-128. doi: 10.1016/j.ympev.2019.01.026. Epub 2019 Feb 10.

PMID:
30753886
3.

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.

N Engl J Med. 2019 Jan 10;380(2):142-151. doi: 10.1056/NEJMoa1806891. Epub 2018 Dec 26.

PMID:
30586318
4.

Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family.

Cameron-Christie SR, Wilde J, Gray A, Tankard R, Bahlo M, Markie D, Evans HM, Robertson SP.

BMC Med Genomics. 2018 Dec 18;11(1):121. doi: 10.1186/s12920-018-0440-0.

5.

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, Ludkig K, Trevisson E, Bahlo M, Markie DM, Jenkins ZA, Robertson SP.

Am J Hum Genet. 2018 Jun 7;102(6):1115-1125. doi: 10.1016/j.ajhg.2018.04.008. Epub 2018 May 24.

6.

Ancient mitogenomes of Phoenicians from Sardinia and Lebanon: A story of settlement, integration, and female mobility.

Matisoo-Smith E, Gosling AL, Platt D, Kardailsky O, Prost S, Cameron-Christie S, Collins CJ, Boocock J, Kurumilian Y, Guirguis M, Pla Orquín R, Khalil W, Genz H, Abou Diwan G, Nassar J, Zalloua P.

PLoS One. 2018 Jan 10;13(1):e0190169. doi: 10.1371/journal.pone.0190169. eCollection 2018.

7.

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.

J Pediatr Gastroenterol Nutr. 2018 Feb;66(2):218-221. doi: 10.1097/MPG.0000000000001781.

PMID:
29036008
8.

Interspecific hybridization causes long-term phylogenetic discordance between nuclear and mitochondrial genomes in freshwater fishes.

Wallis GP, Cameron-Christie SR, Kennedy HL, Palmer G, Sanders TR, Winter DJ.

Mol Ecol. 2017 Jun;26(12):3116-3127. doi: 10.1111/mec.14096. Epub 2017 Apr 12. Review.

PMID:
28295830
9.

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.

Am J Hum Genet. 2015 Apr 2;96(4):623-30. doi: 10.1016/j.ajhg.2015.02.010. Epub 2015 Mar 26.

10.

Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.

Tiffin HR, Jenkins ZA, Gray MJ, Cameron-Christie SR, Eaton J, Aftimos S, Markie D, Robertson SP.

Neurogenetics. 2013 May;14(2):113-21. doi: 10.1007/s10048-013-0359-8. Epub 2013 Mar 2.

PMID:
23456229

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