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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: pinner j. JAMA. 2020 Jun 23;323(24):2503-2511. doi: 10.1001/jama.2020.7671. JAMA. 2020. PMID: 32573669 Free PMC article.
Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome.
Biggin A, Enriquez A, Wong M, Bennetts B, Lau C, Chan CY, Pinner J, Adelstein S, Adès LC. Biggin A, et al. Among authors: pinner j. J Clin Immunol. 2018 Apr;38(3):234-236. doi: 10.1007/s10875-018-0484-0. Epub 2018 Mar 9. J Clin Immunol. 2018. PMID: 29524015 No abstract available.
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.
Dagar V, Hutchison W, Muscat A, Krishnan A, Hoke D, Buckle A, Siswara P, Amor DJ, Mann J, Pinner J, Colley A, Wilson M, Sachdev R, McGillivray G, Edwards M, Kirk E, Collins F, Jones K, Taylor J, Hayes I, Thompson E, Barnett C, Haan E, Freckmann ML, Turner A, White S, Kamien B, Ma A, Mackenzie F, Baynam G, Kiraly-Borri C, Field M, Dudding-Byth T, Algar EM. Dagar V, et al. Among authors: pinner j. Clin Epigenetics. 2018 Aug 30;10(1):114. doi: 10.1186/s13148-018-0546-4. Clin Epigenetics. 2018. PMID: 30165906 Free PMC article.
Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care.
Stark Z, Nisselle A, McClaren B, Lynch F, Best S, Long JC, Martyn M, Patel C, Schlapbach LJ, Barnett C, Theda C, Pinner J, Dinger ME, Lunke S, Gaff CL. Stark Z, et al. Among authors: pinner j. Eur J Hum Genet. 2019 Oct;27(10):1493-1501. doi: 10.1038/s41431-019-0429-y. Epub 2019 May 31. Eur J Hum Genet. 2019. PMID: 31148592 Free PMC article.
Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing.
Evans CA, Pinner J, Chan CY, Bowyer L, Mowat D, Buckley MF, Roscioli T. Evans CA, et al. Among authors: pinner j. Am J Med Genet A. 2019 Oct;179(10):2152-2157. doi: 10.1002/ajmg.a.61295. Epub 2019 Jul 19. Am J Med Genet A. 2019. PMID: 31321886
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: pinner j. 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.
The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes.
Goergen SK, Alibrahim E, Christie J, Dobrotwir A, Fahey M, Fender L, Frawley K, Manikkam SA, Pinner JR, Sinnott S, Romaniello R, Sandaradura SA, Taylor J, Vasudevan A, Righini A. Goergen SK, et al. Among authors: pinner jr. AJNR Am J Neuroradiol. 2021 Aug;42(8):1528-1534. doi: 10.3174/ajnr.A7131. Epub 2021 May 6. AJNR Am J Neuroradiol. 2021. PMID: 33958329 Free PMC article.
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: pinner jr. 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.
56 results