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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Am J Hum Genet. 2023 Jun 1;110(6):963-978. doi: 10.1016/j.ajhg.2023.04.008. Epub 2023 May 16.
Am J Hum Genet. 2023.
PMID: 37196654
Free PMC article.
Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome".
Kirk EP, Barlow-Stewart K, Selvanathan A, Josephi-Taylor S, Worgan L, Rajagopalan S, Cowley MJ, Gayevskiy V, Bittles A, Burnett L, Elakis G, Lo W, Buckley M, Colley A, Roscioli T.
Kirk EP, et al. Among authors: josephi taylor s.
Genet Med. 2019 Mar;21(3):608-612. doi: 10.1038/s41436-018-0082-9. Epub 2018 Jul 2.
Genet Med. 2019.
PMID: 29961766
Free article.
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Response to Suthers and Mina.
Kirk EP, Barlow-Stewart K, Josephi-Taylor S, Roscioli T.
Kirk EP, et al. Among authors: josephi taylor s.
Genet Med. 2019 May;21(5):1258. doi: 10.1038/s41436-018-0318-8. Epub 2018 Oct 16.
Genet Med. 2019.
PMID: 30327541
Free article.
No abstract available.
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User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia.
Josephi-Taylor S, Barlow-Stewart K, Selvanathan A, Roscioli T, Bittles A, Meiser B, Worgan L, Rajagopalan S, Colley A, Kirk EP.
Josephi-Taylor S, et al.
J Genet Couns. 2019 Apr;28(2):240-250. doi: 10.1007/s10897-018-0298-5. Epub 2018 Dec 14.
J Genet Couns. 2019.
PMID: 30964588
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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: josephi taylor s.
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.
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Protocol for a comprehensive prospective cohort study of trio-based whole-genome sequencing for underlying cancer predisposition in paediatric and adolescent patients newly diagnosed with cancer: the PREDICT study.
Fuentes Bolanos NA, Padhye B, Daley M, Hunter J, Hetherington K, Warby M, Courtney E, Kirk J, Josephi-Taylor S, Chen Y, Alvaro F, Barlow-Stewart K, Wong-Erasmus M, Barahona P, Ajuyah P, Altekoester AK, Tyrrell VJ, Lau LMS, Wakefield C, Sylvester D, Tucker K, Pinese M, Dalla Pozza L, O'Brien TA.
Fuentes Bolanos NA, et al. Among authors: josephi taylor s.
BMJ Open. 2023 May 30;13(5):e070082. doi: 10.1136/bmjopen-2022-070082.
BMJ Open. 2023.
PMID: 37253493
Free PMC article.
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Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine.
Ma A, Newing TP, O'Shea R, Gokoolparsadh A, Murdoch E, Hayward J, Shannon G, Kevin L, Bennetts B, Ho G, Smith J, Shah M, Jones KJ, Josephi-Taylor S, Sandaradura SA, Adès L, Jamieson R, Rankin NM.
Ma A, et al. Among authors: josephi taylor s.
J Paediatr Child Health. 2024 Apr-May;60(4-5):118-124. doi: 10.1111/jpc.16547. Epub 2024 Apr 11.
J Paediatr Child Health. 2024.
PMID: 38605555
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