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Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.
Sanchis-Juan A, Stephens J, French CE, Gleadall N, Mégy K, Penkett C, Shamardina O, Stirrups K, Delon I, Dewhurst E, Dolling H, Erwood M, Grozeva D, Stefanucci L, Arno G, Webster AR, Cole T, Austin T, Branco RG, Ouwehand WH, Raymond FL, Carss KJ. Sanchis-Juan A, et al. Among authors: austin t. Genome Med. 2018 Dec 7;10(1):95. doi: 10.1186/s13073-018-0606-6. Genome Med. 2018. PMID: 30526634 Free PMC article.
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.
French CE, Delon I, Dolling H, Sanchis-Juan A, Shamardina O, Mégy K, Abbs S, Austin T, Bowdin S, Branco RG, Firth H; NIHR BioResource—Rare Disease; Next Generation Children Project; Rowitch DH, Raymond FL. French CE, et al. Among authors: austin t. Intensive Care Med. 2019 May;45(5):627-636. doi: 10.1007/s00134-019-05552-x. Epub 2019 Mar 7. Intensive Care Med. 2019. PMID: 30847515 Free PMC article.
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE, Dolling H, Mégy K, Sanchis-Juan A, Kumar A, Delon I, Wakeling M, Mallin L, Agrawal S, Austin T, Walston F, Park SM, Parker A, Piyasena C, Bradbury K; Next Generation Children’s Project Consortium; Ellard S, Rowitch DH, Raymond FL. French CE, et al. Among authors: austin t. HGG Adv. 2022 Apr 25;3(3):100113. doi: 10.1016/j.xhgg.2022.100113. eCollection 2022 Jul 14. HGG Adv. 2022. PMID: 35586607 Free PMC article.
Active versus passive cooling during neonatal transport.
Chaudhary R, Farrer K, Broster S, McRitchie L, Austin T. Chaudhary R, et al. Among authors: austin t. Pediatrics. 2013 Nov;132(5):841-6. doi: 10.1542/peds.2013-1686. Epub 2013 Oct 21. Pediatrics. 2013. PMID: 24144712
Introduction to neonatologist-performed echocardiography.
Groves AM, Singh Y, Dempsey E, Molnar Z, Austin T, El-Khuffash A, de Boode WP; European Special Interest Group ‘Neonatologist Performed Echocardiography’ (NPE). Groves AM, et al. Among authors: austin t. Pediatr Res. 2018 Jul;84(Suppl 1):1-12. doi: 10.1038/s41390-018-0076-y. Pediatr Res. 2018. PMID: 30072808 Free PMC article. Review.
Generation COVID-19 - Should the foetus be worried?
Iqbal A, Burrin C, Aydin E, Beardsall K, Wong H, Austin T. Iqbal A, et al. Among authors: austin t. Acta Paediatr. 2021 Mar;110(3):759-764. doi: 10.1111/apa.15693. Epub 2020 Dec 10. Acta Paediatr. 2021. PMID: 33253455 Free PMC article. Review.
The challenges of neonatal magnetic resonance imaging.
Arthurs OJ, Edwards A, Austin T, Graves MJ, Lomas DJ. Arthurs OJ, et al. Among authors: austin t. Pediatr Radiol. 2012 Oct;42(10):1183-94. doi: 10.1007/s00247-012-2430-2. Epub 2012 Aug 11. Pediatr Radiol. 2012. PMID: 22886375 Review.
The role of Neonatologist Performed Echocardiography in the assessment and management of neonatal shock.
de Boode WP, van der Lee R, Horsberg Eriksen B, Nestaas E, Dempsey E, Singh Y, Austin T, El-Khuffash A; European Special Interest Group ‘Neonatologist Performed Echocardiography’ (NPE). de Boode WP, et al. Among authors: austin t. Pediatr Res. 2018 Jul;84(Suppl 1):57-67. doi: 10.1038/s41390-018-0081-1. Pediatr Res. 2018. PMID: 30072807 Free PMC article. Review.
472 results