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Page 1
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
Hum Mol Genet. 2023 Jul 20;32(15):2441-2454. doi: 10.1093/hmg/ddad069.
Hum Mol Genet. 2023.
PMID: 37133451
Free PMC article.
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability.
Francis DI, Stark Z, Scheffer IE, Tan TY, Murali K, Gallacher L, Amor DJ, Goel H, Downie L, Stutterd CA, Krzesinski EI, Vasudevan A, Oertel R, Petrovic V, Boys A, Wei V, Burgess T, Dun K, Oliver KL, Baxter A, Hackett A, Ayres S, Lunke S, Kalitsis P, Wall M.
Francis DI, et al. Among authors: krzesinski ei.
Eur J Hum Genet. 2023 May;31(5):521-525. doi: 10.1038/s41431-022-01232-5. Epub 2022 Nov 29.
Eur J Hum Genet. 2023.
PMID: 36446895
Free PMC article.
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The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.
Eratne D, Schneider A, Lynch E, Martyn M, Velakoulis D, Fahey M, Kwan P, Leventer R, Rafehi H, Chong B, Stark Z, Lunke S, Phelan DG, O'Keefe M, Siemering K, West K, Sexton A, Jarmolowicz A, Taylor JA, Schultz J, Purvis R, Uebergang E, Chalinor H, Creighton B, Gelfand N, Saks T, Prawer Y, Smagarinsky Y, Pan T, Goranitis I, Ademi Z, Gaff C, Huq A, Walsh M, James PA, Krzesinski EI, Wallis M, Stutterd CA, Bahlo M, Delatycki MB, Berkovic SF.
Eratne D, et al. Among authors: krzesinski ei.
J Neurol Sci. 2021 Jan 15;420:117260. doi: 10.1016/j.jns.2020.117260. Epub 2020 Dec 3.
J Neurol Sci. 2021.
PMID: 33310205
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Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.
Akesson LS, Eggers S, Love CJ, Chong B, Krzesinski EI, Brown NJ, Tan TY, Richmond CM, Thorburn DR, Christodoulou J, Hunter MF, Lunke S, Stark Z.
Akesson LS, et al. Among authors: krzesinski ei.
Eur J Hum Genet. 2019 Dec;27(12):1821-1826. doi: 10.1038/s41431-019-0477-3. Epub 2019 Jul 29.
Eur J Hum Genet. 2019.
PMID: 31358953
Free PMC article.
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Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
Australian Genomics Health Alliance Acute Care Flagship; Lunke S, Eggers S, Wilson M, Patel C, Barnett CP, Pinner J, Sandaradura SA, Buckley MF, Krzesinski EI, de Silva MG, Brett GR, Boggs K, Mowat D, Kirk EP, Adès LC, Akesson LS, Amor DJ, Ayres S, Baxendale A, Borrie S, Bray A, Brown NJ, Chan CY, Chong B, Cliffe C, Delatycki MB, Edwards M, Elakis G, Fahey MC, Fennell A, Fowles L, Gallacher L, Higgins M, Howell KB, Hunt L, Hunter MF, Jones KJ, King S, Kumble S, Lang S, Le Moing M, Ma A, Phelan D, Quinn MCJ, Richards A, Richmond CM, Riseley J, Rodgers J, Sachdev R, Sadedin S, Schlapbach LJ, Smith J, Springer A, Tan NB, Tan TY, Temple SL, Theda C, Vasudevan A, White SM, Yeung A, Zhu Y, Martyn M, Best S, Roscioli T, Christodoulou J, Stark Z.
Australian Genomics Health Alliance Acute Care Flagship, et al. Among authors: krzesinski ei.
JAMA. 2020 Jun 23;323(24):2503-2511. doi: 10.1001/jama.2020.7671.
JAMA. 2020.
PMID: 32573669
Free PMC article.
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Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate.
Akesson LS, Bournazos A, Fennell A, Krzesinski EI, Tan K, Springer A, Rose K, Goranitis I, Francis D, Lee C, Faiz F, Davis MR, Christodoulou J, Lunke S, Stark Z, Hunter MF, Cooper ST.
Akesson LS, et al. Among authors: krzesinski ei.
Hum Mutat. 2020 Nov;41(11):1884-1891. doi: 10.1002/humu.24101. Epub 2020 Sep 9.
Hum Mutat. 2020.
PMID: 32906196
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