Dianne Sylvester

6/ We treated 11 patients on trial, 9 of whom experienced neurological improvements after IV CAR T cell therapy and went on to receive further intracranial doses of CAR T cells. Seven of the 11 patients showed overall shrinkage of their tumors, 4 of whom had overall reductions in tumor volume over 50%. The tumor responses fit a bell-shaped curve (Gaussian distribution). From the perspective of change in tumor size, there were no outliers.

@jeremypeterrich It was quite funny listening to her come backs after Cat kept speaking truths! eg arguing that a potential wrong centre pass was the reason diamonds went downhill

Cath - "are they about to take the Constellation Cup?" Yes, Cath, I think they are lol #ConstellationCup

@gacw15 @sophie_acklin Or get themselves back into a game without super shots

I kind of feel Diamonds don’t know how to play without their SSN time outs. It’s ok when they are winning, but if they fall behind, they haven’t got a time out to get some coaching advice and correct things or stop the NZ flow #ConstellationCup

@jessbee1999 But Parmy - so keen to see a specialist WD play out the game

No JLP? 😭

We’re thrilled to announce the publication of SpliceVarDB: A comprehensive database of experimentally validated human splicing variants in @AJHGNews 🧬 📖 cell.com/ajhg/fulltext/… #splicing #GeneChat

Phenotypes associated with ERG germline mutations will continue to grow. Anything vascular and developmental. Keep an eye out for cnLOH and low mutant allele freq at the ERG locus. We have functional assays for VUSs so pls contact us if you think you have something interesting.

Finally able to share our work “Germline ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition” in full (well at least pt1). It is out as a First Edition preprint in Blood ashpublications.org/blood/article/…

Are you looking for a PhD project in #childhood #cancer and #proteomics to start in 2025? At @CMRI_AUS #ProCan and @Sydney_Uni. With myself and paediatric oncologist @bhavna_padhye. Please RT. #datascience #bioinformatics #biology sydney.edu.au/research/oppor….

@leaseM_87 There were a couple of questionable calls in the third quarter and that is when the momentum really shifted, disappointing they weren’t able to recover

Idiotic other Giants fans blaming the umpires for the loss. We were up by 8(?) at one point. It’s not the umpires fault if you lose a quarter 20-9. We need to be better #FEVvGIA

@SuperNetball @kayosports every week at least one netball mini is unable to be watched…

Timing and patience on POINT! Missed round three? Watch full replays of all SSN matches on Kayo or watch the Kayo Mini for a bite-sized version 🤝

Exciting news for pediatric healthcare professionals! 🌟 Check out the latest clinical updates and surveillance recommendations for DNA replication-repair deficiency syndromes. Congratulations IRRDC Co-Lead, Dr. Anirban Das🧬tinyurl.com/33zxsm34

We have a new review article published in #DNARepair journal. Everything you ever wanted to know about FANCM, and its role in processing replication forks, R-loops, ICL traverse, and recombination. Written by @LaraAbbouche and @RBDdoesDNA and... me! authors.elsevier.com/sd/article/S15…

@kayosports It says the mini is free however……not that I’m surprised every week with SSN minis I get ‘oops something went wrong’

When these two sides meet, it promises to be a nail-biter. Catch the Thunderbirds take on the Fever in Round 9 of the #SSN tonight from 6:45PM AEST, available on Kayo. #Netball

@shelietweets 😆

Hey there #GeneChat, I'm barely ever here these days but I thought I would share my dodgy creation with you all; who can tell me what it is? 😃 Inspired by comments made by others in a multidisciplinary meeting today about a VOUS...

Oceanian ancestries are among the most under-represented in reference databases and genomic research. Which is a shame, because to understand if this variant TRULY causes a relatively rare disease, we really needed to know how often it occurs in these populations /6

We are delighted to publish guidance for applying segregation (PP1 & BS4) and phenotype specificity (PP4) evidence to variant classification - both important approaches to implicate the variant's locus in disease. Special thanks to Les and the whole team! authors.elsevier.com/sd/article/S00…

Beyond 'winning at all costs': shifting the narrative on female sports participation croakey.org/beyond-winning… #publichealth

@conciergemaree I really love it, I think about this often as someone still playing netty (and not that great at it haha), meanwhile my teenager has stopped playing, and most of her team mates, it makes me sad as they are missing out on what is a fun and active hobby!

Big shoutout to all my amazing collaborators 🙌🏻: Kartik Bhatia, David Lord, @muppys, Geoff McCowage, @CarolineBatema8 , @bhavna_padhye, Mark Dexter, and @DrJonathanK. #CCRU @kids_research @westmeadkids teamwork makes the dream work

The #gnomAD team is proud to announce the release of gnomAD v4! The v4 dataset includes 730,947 exomes & 76,215 genomes, which is ~5x larger than the v2 & v3 releases combined, & includes nearly 120K indivs of non-European genetic ancestry broad.io/gnomad_v4 #ASHG23 (1/11)