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joseph taylor s
(66 results)?
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
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.
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, Goldenberg A, Hertz JM, Andersen CB, Kibæk M, Prijoles EJ, Stevenson RE, Everman DB, Patterson WG, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke PJ, Lopez Garcia MS, Perrier R, Sousa SB, Almeida PM, Simões MJ, Isidor B, Deb W, Schmanski AA, Abdul-Rahman O, Philippe C, Bruel AL, Faivre L, Vitobello A, Thauvin C, Smits JJ, Garavelli L, Caraffi SG, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann APA, Stumpel CTRM, Tiller GE, Bosch DGM, Potgieter ST, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti AG, Freitag CM, Satterstrom FK, De Rubeis S, Buxbaum J, Gelb BD, Branko A, Kushima I, Howe J, Scherer SW, Arado A, Baldo C, Patat O, Bénédicte D, Lopergolo D, Santorelli FM, Haack TB, Dufke A, Bertrand M, Falb RJ, Rieß A, Krieg P, Spranger S, Bedeschi MF, Iascone M, Josephi-Taylor S, Roscioli T, Buckley MF, Liebelt J, Dagli AI, Aten E, Hurst ACE, Hicks A, Suri M, Aliu E, Naik S, Sidlow R, Coursimault J, Ni…
See abstract for full author list ➔
Rots D, et al. Among authors: josephi taylor s.
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.
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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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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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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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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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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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