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Genome sequencing in congenital cataracts improves diagnostic yield.
Hum Mutat. 2021 Sep;42(9):1173-1183. doi: 10.1002/humu.24240. Epub 2021 Jun 15.
Hum Mutat. 2021.
PMID: 34101287
Revealing hidden genetic diagnoses in the ocular anterior segment disorders.
Ma A, Yousoof S, Grigg JR, Flaherty M, Minoche AE, Cowley MJ, Nash BM, Ho G, Gayagay T, Lai T, Farnsworth E, Hackett EL, Fisk K, Wong K, Holman KJ, Jenkins G, Cheng A, Martin F, Karaconji T, Elder JE, Enriquez A, Wilson M, Amor DJ, Stutterd CA, Kamien B, Nelson J, Dinger ME, Bennetts B, Jamieson RV.
Ma A, et al. Among authors: hackett el.
Genet Med. 2020 Oct;22(10):1623-1632. doi: 10.1038/s41436-020-0854-x. Epub 2020 Jun 5.
Genet Med. 2020.
PMID: 32499604
Free PMC article.
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Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families.
Tanudisastro HA, Holman K, Ho G, Farnsworth E, Fisk K, Gayagay T, Hackett E, Jenkins G, Krishnaraj R, Lai T, Wong K, Patel C, Mallawaarachchi A, Mallett AJ, Bennetts B, Alexander SI, McCarthy HJ.
Tanudisastro HA, et al.
NPJ Genom Med. 2021 Mar 4;6(1):20. doi: 10.1038/s41525-021-00184-x.
NPJ Genom Med. 2021.
PMID: 33664247
Free PMC article.
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A novel cause of DKC1-related bone marrow failure: Partial deletion of the 3' untranslated region.
Arthur JW, Pickett HA, Barbaro PM, Kilo T, Vasireddy RS, Beilharz TH, Powell DR, Hackett EL, Bennetts B, Curtin JA, Jones K, Christodoulou J, Reddel RR, Teo J, Bryan TM.
Arthur JW, et al. Among authors: hackett el.
EJHaem. 2021 Jan 26;2(2):157-166. doi: 10.1002/jha2.165. eCollection 2021 May.
EJHaem. 2021.
PMID: 35845273
Free PMC article.
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Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Tudini E, Andrews J, Lawrence DM, King-Smith SL, Baker N, Baxter L, Beilby J, Bennetts B, Beshay V, Black M, Boughtwood TF, Brion K, Cheong PL, Christie M, Christodoulou J, Chong B, Cox K, Davis MR, Dejong L, Dinger ME, Doig KD, Douglas E, Dubowsky A, Ellul M, Fellowes A, Fisk K, Fortuno C, Friend K, Gallagher RL, Gao S, Hackett E, Hadler J, Hipwell M, Ho G, Hollway G, Hooper AJ, Kassahn KS, Krishnaraj R, Lau C, Le H, San Leong H, Lundie B, Lunke S, Marty A, McPhillips M, Nguyen LT, Nones K, Palmer K, Pearson JV, Quinn MCJ, Rawlings LH, Sadedin S, Sanchez L, Schreiber AW, Sigalas E, Simsek A, Soubrier J, Stark Z, Thompson BA, U J, Vakulin CG, Wells AV, Wise CA, Woods R, Ziolkowski A, Brion MJ, Scott HS, Thorne NP, Spurdle AB; Shariant Consortium.
Tudini E, et al.
Am J Hum Genet. 2022 Nov 3;109(11):1960-1973. doi: 10.1016/j.ajhg.2022.10.006.
Am J Hum Genet. 2022.
PMID: 36332611
Free PMC article.
Review.
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Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
Roscioli T, Elakis G, Cox TC, Moon DJ, Venselaar H, Turner AM, Le T, Hackett E, Haan E, Colley A, Mowat D, Worgan L, Kirk EP, Sachdev R, Thompson E, Gabbett M, McGaughran J, Gibson K, Gattas M, Freckmann ML, Dixon J, Hoefsloot L, Field M, Hackett A, Kamien B, Edwards M, Adès LC, Collins FA, Wilson MJ, Savarirayan R, Tan TY, Amor DJ, McGillivray G, White SM, Glass IA, David DJ, Anderson PJ, Gianoutsos M, Buckley MF.
Roscioli T, et al.
Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):259-70. doi: 10.1002/ajmg.c.31378. Epub 2013 Oct 11.
Am J Med Genet C Semin Med Genet. 2013.
PMID: 24127277
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Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).
Caramins M, Colebatch JG, Bainbridge MN, Scherer SS, Abrams CK, Hackett EL, Freidin MM, Jhangiani SN, Wang M, Wu Y, Muzny DM, Lindeman R, Gibbs RA.
Caramins M, et al. Among authors: hackett el.
Hum Mol Genet. 2013 Nov 1;22(21):4329-38. doi: 10.1093/hmg/ddt282. Epub 2013 Jun 16.
Hum Mol Genet. 2013.
PMID: 23773993
Free PMC article.
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A qualitative exploration of motivations and barriers for community leisure organisations' engagement with the Jooay™ mobile app.
Thornton AL, Hackett E, Wilkie A, Gallon J, Grisbrook TL, Elliott CM, Ciccarelli M.
Thornton AL, et al.
Disabil Rehabil. 2022 May;44(9):1737-1745. doi: 10.1080/09638288.2021.1986581. Epub 2021 Nov 3.
Disabil Rehabil. 2022.
PMID: 34731065
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