Very pleased to share our paper on the Relationship between molecular pathogen detection and clinical disease in febrile children across Europe, which can be accessed here: authors.elsevier.com/sd/article/S26…

I’m 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

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 Anne O'Donnell-Luria GREGoR Consortium medrxiv.org/content/10.110…

Well done and congratulations Dr Ellie Seaby on her PhD viva! Thank you to Mina Ryten and Nick Cross for examining Southampton Medicine University of Southampton 🧑🏽‍🎓

I will never recover from this student email.

Lectureship in Genomic Informatics- Human Genetics & Genomic Medicine Southampton Medicine A *Full Time Permanent Position* to drive medical research with omics' data. Contact [email protected] for info jobs.soton.ac.uk/Vacancy.aspx?r… Diana Baralle John Holloway Victoria Goss

Delighted to share my latest article “A Panel-Agnostic Strategy ‘HiPPo’ Improves Diagnostic Efficiency in the UK Genomic Medicine Service “ published in Healthcare. mdpi.com/2227-9032/11/2…

1/ Another appalling performance by Uber Boat by Thames Clippers. Arrive at Chelsea harbour for 17.20 RB2 boat. Skipper sees me & says to his colleague “ahh not a wheelchair”… because it involves “getting the ramp” 😩😡 …

2/ Uber Boat by Thames Clippers I then board and am told I can’t sit outside with my sister (which was the entire point of the journey) because my wheelchair is in the way and “other people will be coming on board at later stops and I’ll be in the way”….

3/ Uber Boat by Thames Clippers I then say there’s plenty of room and I want to stay outside and enjoy the view and the captain comes past me & says “you’ve got to move you can’t be here” but doesn’t ask anyone else to move. Discrimination to the wheelchair user (again)!

I am delighted to share my latest first author publication: A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project - Genetics in Medicine gimjournal.org/article/S1098-… Southampton Medicine Diana Baralle The Foulkes Foundation

Delighted to have been part of Anne O'Donnell-Luria’s lab and co-author on this paper published in the NEJM The Foulkes Foundation nejm.org/doi/full/10.10…

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. The Foulkes Foundation journals.biologists.com/dmm/article/17…

Thank you for sharing!

A new genetic disorder, #SeabyEnnisSyndrome, has been discovered by Dr. Eleanor Seaby, paediatric doctor and former University of Southampton PhD student. Mutations in the DDX17 gene are linked to neurodevelopmental delays. Find out more here: southampton.ac.uk/medicine/news/… #genetics #research

Finish a set of nights and look forward to Bridget Jones… but Everyman Cinema disappoints. You think if you book a wheelchair space, they’d call you to inform you.