We're hosting a seminar on 16th June at this year's #ESHG2019. We hope you can join us to hear from speakers including @albasanchisjuan and Jeroen de Ridder. Register here: bit.ly/2WZwEUY

BBC News - Genome sequencing 'revolution' in diagnosis of sick children bbc.co.uk/news/health-48…

X-linked Intellectual disability does not always mean pathogenic variants on the X-autosomal variants could also be causal. Very happy to see my first last-author paper published! Thanks to the amazing @albasanchisjuan and to ProfLucy Raymond who is an extremely supportive mentor

Do you fancy some free cheese and wine? Better yet, some free science! Come and hear from some of our researchers at the Research at ARUK funded cheese and wine evening Cardiff University on 24th July. (tinyurl.com/y3vtxdjq) UK Dementia Research Institute Dementia Genetics Group Cardiff

Pls RT Interested in using #NGS to rapidly diagnose patients?Consider joining this FREE inaugural workshop I'm organising Speakers from academia, NHS and industry, including: Lamia Mestek-Boukhibar Ian Berry Suzanne Drury @ExeterExomes Wales Gene Park Genomics Partnership Wales (GPW) The All Wales Medical Genomics Service @LondonNorthGLH

I'm super excited to finally share the details of this workshop Aimed at those using rapid NGS techniques to diagnose patients with #RareDiseases it brings together a Stella line up of speakers for an informal meeting in beautiful #Cardiff to share best practices. #RND2020

"Recommendations for designing genetic test reports to be understood by patients and non-specialists” - what a great theme for my colleagues’ paper! nature.com/articles/s4143…

We are carrying out a survey to find out about the experiences of people living in the UK of the coronavirus COVID19 pandemic: covid19attitudes.onlinesurveys.ac.uk/uk-public-expe…

This is a superb idea, we can all help use our skills to help with the fight #COVID19 I'd be happy to do anything if it means those more experienced can focus their work where it matters most. Please consider..

Based on ~2000 children it looks like coronavirus is generally less severe in kids than adults BUT babies and young children (<5) are at higher risk of serious disease than older children. (This article has a link to the original research paper). tinyurl.com/vrcng3e

Are you a #parent whose child has a #genetic disorder? How is COVID19 affecting YOU and your family? New research project coinstudy.co.uk opens TODAY Please take part or retweet. MRC Cognition and Brain Sciences Unit @eruk BSGM

It’s out! Hundreds of colleagues, thousands of patients, many years. Very proud to have been a part of this. Whole-genome sequencing of patients with rare diseases in a national health system | Nature nature.com/articles/s4158…

After 4 years of close collaboration with scientists across the EU and US, we proudly present novel Alzheimer Disease-associated genes from our comparison of exome sequences from 12,652 AD patients and 8,693 non-demented controls. It's online at MedRxiv:medrxiv.org/content/10.110…

Finding non-coding rare variants that cause disease is hard. Dr Detelina Grozeva, Lambert Moyon, David FitzPatrick et al. show what it takes biorxiv.org/content/10.110…

1/6 New COVID-19 CABStudy results out today on public experiences of potential #Cancer symptoms during #COVID19. Further details here: cabs-study.yolasite.com Kate Brain UK Research and Innovation Cancer Research UK DPM PRIME Centre Wales CTRCardiffUni @CancerPrev_KCL University of Surrey Cancer Care Surrey Public Health Wales

We're delighted today to announce our new 'Emerging Leaders' programme - an initiative to support research fellows on their journey to independence! 🎉🧠 Find out more about programme & first UK DRI Emerging Leaders👉 bit.ly/2Qdq8eS (1/4)

Our second publication from PEACH is now available to view. Enitan Carrol 🇬🇲🇸🇱🏴󠁧󠁢󠁳󠁣󠁴󠁿🇬🇧 Jonathan Sandoe Dr Emma Thomas-Jones Martin Llewelyn Dr Detelina Grozeva Dr Joanne Euden Neil Powell on behalf of the PEACH team. CTRCardiffUni academic.oup.com/jac/advance-ar…

Following on from our infographic we are very happy to share our new study animation. It’s a summary of all our work over the last 1.5 years on COVID-19 CABStudy. It highlights what we have done, our results, dissemination and impact so far. More here - cabs-study.yolasite.com