British doctor š and NIHR Academic Research Fellow @imperialcollege in Paediatrics āæļø
London, England
Joined September 2016
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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
@GilletteStadium please help me get accessible tickets to eng v Ghana at World Cup! I canāt get them onlineš
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.
@TommyHilfiger please can you stop using the lift as a storage. These are taken 3 months apartā¦. Same issue.
Thank you for sharing!
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
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
This was a fantastic collaboration with colleagues from Lyon, @portsmouthuni and clinicians across the globe.
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.
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¦
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¦
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
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)!
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¦.
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¦
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¦
Ellie Seaby retweeted
Lectureship in Genomic Informatics- Human Genetics & Genomic Medicine @UoS_Medicine
A *Full Time Permanent Position* to drive medical research with omics' data. Contact [email protected] for info
jobs.soton.ac.uk/Vacancy.aspā¦
@ProfDBaralle @ProfJWHolloway @VictoriaMGoss
Ellie Seaby retweeted
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
Ellie Seaby retweeted
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¦
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