Susanne Roosing

Hello world!🙋🏼‍♀️ I released the website of my group working on #genetic diseases of the #retina at @GeneticNijmegen! 🧬 susanneroosing.com 🧬

@Lot_SB @maxplanckpress @MPI_NL Super gefeliciteerd, Lot!!!! 🤗

Thrilled and honoured to be one of the recipients of the Otto Hahn medal today in Göttingen…so many amazing researchers around here 😀 @maxplanckpress @MPI_NL

@maleehaazam @AghaZehra @rqamar Congratulations Maleeha!!!!! Now so sad that I will not go🫤 have a great experience!!!

A huge congratulations to @PhDwithLaura for passing her viva last Tuesday👩‍🔬👩‍🎓. Meet Dr. Laura!! You did awesome!! ps1. this requires a name change on Twitter!! 🤓. ps2. look at that hairwave you're doing: ' 'just' doing my viva like its easy 💪'.

@EmmaYhnell Noise… when I first heard it, I was like ‘huh? But there is no sound in these experiments😅.. (side note: I’m not a native English)

Scientists of Twitter! I have a question for you... ...name some words / phrases that mean different things to scientists vs their use in everyday life. I'll start... Culture Media Digest Cleavage. Please add your examples below⤵️, let's see how many we can get!

@oligogirl You are right! Whole gene analysis may be enough! But what if your case remains unresolved still🤷🏼‍♀️ or you find VUSses? Will you be sure enough? WGS as a single test will allow to exclude (or confirm😅) other causes. This may also be requested for inclusion for treatment later.

Authors discuss that performing whole genome sequencing is important as otherwise variants that are amenable to ASO mediated exon skipping are missed. I fully agree of course. I think that for recessive diseases with 1 known variant, whole GENE analysis may be enough.

#apaperaday Today's pick is from Human Genetics and Genomics Advances by Reurink et al & @Jandritu on detection of mutations in the USH2A gene with whole genome sequencing to find missing mutations, some of which are amenable to exon skipping DOI: 10.1016/j.xhgg.2023.100181

Our paper is out in @HGGAdvances! We did WGS for 100 unexplained USH2A-associated Ush and RP cases and developed AON correction for 4 variants. Congrats for this last chapter of your thesis, Janine Reurink! Project funded by @VeluxStiftung. #USH2A @usher_syndroom @GeneticNijmegen

@PhDWithLaura Congratulations soon to be Dr. laura!!! Hope I can join the defense virtually!

@PhDWithLaura I thought about this earlier this week!! When is the actual date??? 👏🏼

Did I say soon? Our paper appeared online today on a massive study by Daan Panneman et al! 'Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis'. Thnx to all collaborators! #retina frontiersin.org/articles/10.33…

@FasserChristina Thank you, Christina!! :):)

@SusanneRoosing my congratulations and good luck chrisina asser

I'm back!! Still easing back into a new work-private balance as a new mom, but ready to tweet and re-tweet all about new developments and papers! See you👉soon👈!

@Lot_SB Gefeliciteerd Lot!!!!!👏🏼

Almost ten years after I started working in Genetics…finally a Clinical Geneticist 🎉🧬😅

p.(Cys759Phe) in USH2A in a homozygous state IS pathogenic!! Our latest publication has the evidence! Work by my PhD-student Janine Reurink and in collaboration with Dr. Erwin van Wijk! A big thank you to all co-authors #ushersyndrome #USH2A #retina rdcu.be/cPdgx

'Identification of a complex allele in IMPG2 as a cause of adult-onset vitelliform macular dystrophy'. Proud of this collaborative publication with @IreneVD1, @Jandritu and all other coauthors! iovs.arvojournals.org/article.aspx?a…

@elfridedebaere @EJPRareDiseases @SEdeBruijn @ARVOinfo Such a shame that the virtual attendance does not allow to watch live presentations... 😑😳 (even while paying the same fee as an in person attendance 😵‍💫).. Guess I'll need to wait until may 11th to watch this.. When all the fun is over..😐

@EJPRareDiseases Solve-RET collaborator @SEdeBruijn gave a great presentation about the importance of re-analysis of NGS data to find #structuralvariants in inherited retinal diseases. @ARVOinfo #ARVO2022

@PhDWithLaura @fight_blindness Oeh wow! 👏🏼👌🏻

Wow!! What a great day and wonderful party!! A huge congrats to @SEdeBruijn for her cum laude PhD degree👩🏻‍🎓! It was such a pleasure supporting you along your PhD journey! 👏🏼 Thank you @elfridedebaere, @robkoenekoop1 for joining the committee!

Super proud to be part of this incredible piece of work by Stéphanie Cornelis and Frans Cremers, @elfridedebaere. A guideline for #stargardt #stgd1 disease genetic #counseling

@elfridedebaere @radboudumc @DondersInst @ITN_StarT @cmggent @RAREMED1 @s_cornelis_susa

It was great to participate in this study on complicated recurrence risk calculations for #stargardt disease! #abca4 Frans Cremers @radboudumc @DondersInst @SusanneRoosing @ITN_StarT @cmggent @RAREMED1

Een belangrijke publicatie voor genetische counseling bij #ziektevanstargardt #Stgd #stgd1 @GeneticNijmegen