British doctor š and NIHR Academic Research Fellow @imperialcollege in Paediatrics āæļø
Joined September 2016
- Tweets 345
- Following 263
- Followers 302
- Likes 573
24 Photos and videos
Apr 30
Help me fulfil a lifelong dream! Can anyone help me acquire wheelchair tickets to eng v Ghana in World Cup at Boston stadium? @FIFAWorldCup @England
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Apr 30
@GilletteStadium please help me get accessible tickets to eng v Ghana at World Cup! I canāt get them onlineš
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16 Mar 2025
Finish a set of nights and look forward to Bridget Jonesā¦ but @Everymancinema disappoints. You think if you book a wheelchair space, theyād call you to inform you.
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1 Mar 2025
@TommyHilfiger please can you stop using the lift as a storage. These are taken 3 months apartā¦. Same issue.
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21 Oct 2024
Thank you for sharing!
16 Oct 2024
Seaby et al. show that individuals with monoallelic DDX17 mutations display neurodevelopmental and behavioural alterations similar to those observed in mouse and Xenopus models following DDX17 loss of function. tinyurl.com/bdfdk8pr
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17 Oct 2024
Very excited to publish my latest research paper in @Brainjournal: Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder academic.oup.com/brain/articā¦ @FoulkesFdn @unisouthampton @ProfDBaralle @C_Bourgeois_ENS
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17 Oct 2024
This was a fantastic collaboration with colleagues from Lyon, @portsmouthuni and clinicians across the globe.
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17 Oct 2024
Particular thanks to the expertise of @C_Bourgeois_ENS @JCourchet @ennis_genomics and the Guille lab in Portsmouth. A further thanks to all the patients, families and clinicians involved.
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6 Jun 2024
Also delighted to share this article I co-wrote with colleagues in the UK and US published in @DMM_Journal on modelling human genetic disorders in Xenopus tropicalis. @FoulkesFdn
journals.biologists.com/dmm/ā¦
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6 Jun 2024
Delighted to have been part of @AnneOtationās lab and co-author on this paper published in the @NEJM @FoulkesFdn
nejm.org/doi/full/10.1056/NEā¦
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27 Feb 2024
I am delighted to share my latest first author publication: A gene pathogenicity tool āGenePyā identifies missed biallelic diagnoses in the 100,000 Genomes Project - Genetics in Medicine gimjournal.org/article/S1098ā¦ @UoS_Medicine @ProfDBaralle @FoulkesFdn
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30 Dec 2023
3/ @thamesclippers I then say thereās plenty of room and I want to stay outside and enjoy the view and the captain comes past me & says āyouāve got to move you canāt be hereā but doesnāt ask anyone else to move. Discrimination to the wheelchair user (again)!
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30 Dec 2023
2/ @thamesclippers I then board and am told I canāt sit outside with my sister (which was the entire point of the journey) because my wheelchair is in the way and āother people will be coming on board at later stops and Iāll be in the wayāā¦.
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30 Dec 2023
1/ Another appalling performance by @thamesclippers. Arrive at Chelsea harbour for 17.20 RB2 boat. Skipper sees me & says to his colleague āahh not a wheelchairāā¦ because it involves āgetting the rampā š©š” ā¦
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15 Dec 2023
Delighted to share my latest article āA Panel-Agnostic Strategy āHiPPoā Improves Diagnostic Efficiency in the UK Genomic Medicine Service ā published in Healthcare. mdpi.com/2227-9032/11/24/317ā¦
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Ellie Seaby retweeted
12 Dec 2023
Lectureship in Genomic Informatics- Human Genetics & Genomic Medicine @UoS_Medicine
A *Full Time Permanent Position* to drive medical research with omics' data. Contact se@soton.ac.uk for info
jobs.soton.ac.uk/Vacancy.aspā¦
@ProfDBaralle @ProfJWHolloway @VictoriaMGoss
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Ellie Seaby retweeted
28 Nov 2023
I will never recover from this student email.
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Ellie Seaby retweeted
16 Nov 2023
Well done and congratulations Dr @DrLECB on her PhD viva! Thank you to Mina Ryten and Nick Cross for examining @UoS_Medicine @unisouthampton š§š½āš
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Ellie Seaby retweeted
14 Aug 2023
How does genome compare to exome or targeted gene panels for rare disease diagnosis? Our preprint is now posted! Honored to work with a brilliant team of collaborators across the world to put this together @AnneOtation @GREGoR_research
medrxiv.org/content/10.1101/ā¦
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2 Aug 2023
Iām due to start an ST1 with out of hours in London (Paeds). Can anyone give me a guesstimate on how much I can expect to take home after NHS pension, student loan, tax etc based on working OOH? #medtwitter
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