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Page 1
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, B… See abstract for full author list ➔ Bournazos AM, et al. Among authors: krzesinski e. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free article.
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. 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.
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. JAMA. 2020 Jun 23;323(24):2503-2511. doi: 10.1001/jama.2020.7671. JAMA. 2020. PMID: 32573669 Free PMC article.
Parental experiences of ultrarapid genomic testing for their critically unwell infants and children.
Brett GR, Martyn M, Lynch F, de Silva MG, Ayres S, Gallacher L, Boggs K, Baxendale A, Schenscher S, King-Smith S, Fowles L, Springer A, Lunke S, Vasudevan A, Krzesinski E, Pinner J, Sandaradura SA, Barnett C, Patel C, Wilson M, Stark Z. Brett GR, et al. Among authors: krzesinski e. Genet Med. 2020 Dec;22(12):1976-1985. doi: 10.1038/s41436-020-0912-4. Epub 2020 Jul 28. Genet Med. 2020. PMID: 32719395 Free article.
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
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe K, Stark Z, Kerr PG, Gaff C, Martyn M, Whitlam J, Creighton B, Donaldson E, Hunter M, Jarmolowicz A, Johnstone L, Krzesinski E, Lunke S, Lynch E, Nicholls K, Patel C, Prawer Y, Ryan J, See EJ, Talbot A, Trainer A, Tytherleigh R, Valente G, Wallis M, Wardrop L, West KH, White SM, Wilkins E, Mallett AJ, Quinlan C. Jayasinghe K, et al. Among authors: krzesinski e. Genet Med. 2021 Jan;23(1):183-191. doi: 10.1038/s41436-020-00963-4. Epub 2020 Sep 17. Genet Med. 2021. PMID: 32939031 Free PMC article.
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
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.
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB, Arts P, Ha TT, Kassahn KS, Pais LS, O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics; Babic M, Frank MSB, Feng J, Wang P, Lawrence DM, Eshraghi L, Arriola L, Toubia J, Nguyen H; Genomic Autopsy Study Research Network; McGillivray G, Pinner J, McKenzie F, Morrow R, Lipsett J, Manton N, Khong TY, Moore L, Liebelt JE, Schreiber AW, King-Smith SL, Hardy TSE, Jackson MR, Barnett CP, Scott HS. Byrne AB, et al. Nat Med. 2023 Jan;29(1):180-189. doi: 10.1038/s41591-022-02142-1. Epub 2023 Jan 19. Nat Med. 2023. PMID: 36658419 Free PMC article.
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
Amarasekera SSC, Hock DH, Lake NJ, Calvo SE, Grønborg SW, Krzesinski EI, Amor DJ, Fahey MC, Simons C, Wibrand F, Mootha VK, Lek M, Lunke S, Stark Z, Østergaard E, Christodoulou J, Thorburn DR, Stroud DA, Compton AG. Amarasekera SSC, et al. Among authors: krzesinski ei. Hum Mol Genet. 2023 Jul 20;32(15):2441-2454. doi: 10.1093/hmg/ddad069. Hum Mol Genet. 2023. PMID: 37133451 Free PMC article.
13 results