David Francis @DavidFr87880457
Genomic Scientist with interests in Fragile X Syndrome and Genomic Mosaicism Melbourne Joined October 2022-
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MCRI researchers have identified a new rare #genetic syndrome that causes #intellectualdisability & differences of sex development in #children. Published in @NatureComms, the discovery paves the way for diagnoses in more affected individuals. bit.ly/3CEXecl @K_L_Ayers
Our latest interview! @TeamVCGS @DavidFr87880457 discusses key findings from his experience using saliva samples in genetic testing and highlights four benefits of using saliva over blood as a sample type. Check it out! hubs.li/Q01T7xsC0
Read this #preprint on @researchsquare: Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability researchsquare.com/article/rs-204…
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Lilian Downie @drlildownie
113 Followers 85 Following Clinical Geneticist | PhD candidate | hearing impairment, genomic newborn screening, prenatal genetics
Genomics Education @genomicsedu
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244 Followers 129 Following A place for Genetic Counsellors working in Research to Connect 🧬
Kirsten Boggs @KirniGC
271 Followers 233 Following Genetic Counsellor for @AusGenomics with special interest in Rapid Genomics, RCS and genomic NBS. Chair of @GCRConnect📍Gadigal land. She/her. Views are my own
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52K Followers 323 Following The American Society of Human Genetics (ASHG) is the world's largest professional membership organization for human genetics & genomics specialists.
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Edwin Kirk @edwin_kirk
249 Followers 339 Following I'm a clinical geneticist, genetic pathologist, researcher and author, based in Sydney, Australia.
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Helen Firth @HelenVFirth
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@Morbidful Similar story, Buckwheat was a therapy cat who lived at a nursing home in the United Kingdom. He was known for his uncanny ability to predict the deaths of residents. He would often curl up on the bed of a resident who was about to die, and he would stay with them until they…
The discovery of Tutankhamun's tomb in 1922 is one of the most significant archaeological finds in history. The tomb belonged to the pharaoh Tutankhamun, who ruled Egypt during the 18th Dynasty of the New Kingdom period (around 1332-1323 BCE). The unbroken seal on the tomb, which…
On now Hall 5 #ESHG2023 @aphillippy: T2T genomes to address completeness and representation biases and improve analysis
The most gob-smacking thing about the whole Lehrmann saga is how quickly it became about all the women involved instead of the men: particularly, how little of the commentary has been about Scott Morrison. For example, Fiona Brown carefully stated last week how Morrison…
Great to see the value of rapid #genetic diagnosis and the need for equitable access highlighted in @theage Full results of our #AcuteCare @AusGenomics study now out in @NatureMedicine 🇦🇺🧬 👉rdcu.be/dd4M6
The ultra-rapid genetic tests giving parents a diagnosis for children’s mystery conditions theage.com.au/national/victo…
@historyinmemes My grandfather worked on it while it was getting rehabilitated in the early 1980’s. He took us there as kids and we got to go in the torch. It was while the whole thing was in scaffolding. One of the points of the crown was digging into her arm. That’s what they were repairing…
Out now @NatureMedicine results of our #AcuteCare @AusGenomics study 🇦🇺 Huge national effort: 290 critically ill 👶 2.9 days to WGS result ⏱️ RNAseq+proteomics+extra analysis 🔍 👉54% diagnosed, major impacts on care 🏥 rdcu.be/dd4M6 🧵
15 yrs ago, while hiking on my own, I was violently assaulted & raped. Every anniversary, I go for a solo hike to remind myself I can still do it, that there is great beauty to be found, even after trauma. Here’s today’s hike. And my essay I always post 👉tinyurl.com/482k67e9
Iodine was added to table salt in the U.S. since 1924 to reduce the incidence of goiter, an enlargement of the thyroid gland, but it had the unanticipated side effect of raising the national IQ by an average of 3.5 points [read more: buff.ly/3iTqbab]
Millionaires form yacht blockade in Sydney Harbour to protest superannuation changes theshovel.com.au/2023/03/01/mil…
BREAKING NEWS: Ed Sheeran is in hospital. 😉 @RCHMelbourne
Some days, working in a kids’ hospital is really difficult. Today is not one of those days. Thank you @edsheeran @RCHMelbourne
Congratulations @oliverkarenl and Marina Trivisano on a deep dive into WWOX DEE! Very helpful information for families and clinicians - a long and fruitful journey
My first WES analysis 10 years ago with @ingridscheffer, @MelanieBahlo led to this paper! A study co-led by @NicolaSpecchio_ and Marina Trivisano with co-authors @DavidFr87880457 @hcmefford @gaetan_lesca @kenmyers123 and many others... key points on #WWOX-DEE in below 🧵
I'm incredibly sad to hear about the passing of @methylnick - what a terrible loss. The outpouring of grief on Twitter is palpable; I hope he had a sense of what he meant to the Australian bioinformatics community.
Surely the most beautiful library in Australia.
Time for WGS-first approach #RareDisease? Out now in @ejhg_journal: 3 days to urgent WES result but 3 years to get WGS and find the second 'hit': an inversion! rdcu.be/c4Mcp 🌟@heartfulpaeds @GenomeSeb @DrAndrewFennell @TeamVCGS
Please check out our new paper 'Comprehensive multiomic profiling of somatic mutations in malformations of cortical development' now online at: nature.com/articles/s4158…. Thanks to all collaborators, patients, and the amazing @shishenyxx @changukchung!
Breaking my Twitter hiatus to share some important research. Latest in @Nature find replicating (meaning active) Covid-19 in brain and body tissue in 44 autopsy patients up to seven months out from acute infection. See thread for details and link.
Applying to be CEO of Twitter
🤔 are saliva or blood samples better for microarray? Our latest @ejhg_journal: we compare results from 270 children who had both: 20 extra diagnoses using saliva due to mosaic CNVs 🔍🧬 Congrats @TeamVCGS @DavidFr87880457 @wall_meaghan @GenomeSeb 👏 rdcu.be/c0FwO
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