Zeynep Tumer

Our friends at @SimonsSearchlight created a new quarterly report featuring a special spotlight on developmental growth charts. View the latest DLG4 report on their website: cdn.simonssearchlight.org/wp-content/upl… Learn more on how you can contribute to our study at simonssearchlight.org

A short report on the importance of further investigation of deep intronic variants in diagnosis of rare disorders. #DLG4 #shinesyndrome onlinelibrary.wiley.com/doi/10.1111/cg…

An extensive and useful review on imprinting disorders in Nature Reviews - Disease Primers #RareDisease #imprintingdisorders @ZeynepTumer_DK doi.org/10.1038/s41572…

Several of our MAB members collaborated on a DLG4 chapter that has just been published! This article provides critical information about this diagnosis, common symptoms, recommended medical surveillance, and more. (1/2) ncbi.nlm.nih.gov/books/NBK59268…

A coverage on the Swedish television about the patients and our team of the #undiagnoseddiseasehackathon that took place last weekend in #Stockholm. @Willefonden @karolinskainst #RareDisease #genetics svtplay.se/video/Kz2m2rA/…

We're kicking off the 1st #UndiagnosedDisease Hackathon organized by @WilhelmFound and the Karolinska Institutet. Wonderful to meet some of the patients & families for which we will be doing analyses trying to identify a diagnosis 🤞🏼 @UDNIss @ReMexER1 @ERCAL_RD

The 1st #undiagnosedhackathon was a great success with finale of Coat of Arms designed by the participants from Japan! Looking forward to seeing all in Georgia in October 22-23 for the 12th #UDNI meeting, registration link will be opened soon @WilhelmFound @UDNIss #raredisease

Thank you for organizing this inspiring event, that already resulted in a few diagnoses today! #raredisease #genetics #undiagnosedhackathon #wilhemfoundation

@shahida_moosa @StefanBarakat @Gianina_Natoli @WilhelmFound @GestaltMatcher @GestaltMatcher and @KrawitzPeter was already invited, but overlapped with other duties.

@StefanBarakat @Gianina_Natoli @WilhelmFound Wowzers! yay, that's great news. Next year, we should incorporate @Gestaltmatcher and boost diagnoses even more! See you at the next hackathon!

Exciting to take part in the 1st global undiagnosed disease Hackathon in Stockholm. 100 scientists, clinicians & bioinformaticians from 28 countries join to solve genetic causes of 13 individuals with unexplained rare disease @WilhelmFound #genetics #neurotwitter #Bioinformatics

Thank you for what you are doing for undiagnosed @Willefonden

The first Danish peptide symposium takes place in Copenhagen on August 31 eventsignup.ku.dk/danishpeptides…

@EpiCARE_ERN @ERNIthaca @VerloesAlain @KleaVyshka @EU_HaDEA @EU_Health Thank you for your hospitality and a very well organized meeting. It was a great pleasure to attend EpiCARE meeting.

A pleasure to welcome an @ERNIthaca delegation in our annual meeting! @VerloesAlain, @KleaVyshka and @ZeynepTumer_DK came to Utrecht today and met our members, to present their work and discuss possible collaborations. #EuropeanReferenceNetworks #ERNs @EU_HaDEA @EU_Health

@LauraPalmer712 @FiladelfiaGene1 @EpiCARE_ERN @ERNIthaca @gaetan_lesca @ARZIMANOGLOUAL1 @stephane_auvin @malenicamasa96 @Marcotataglia @r_guerrini @rkalviainen Thank you :)

@FiladelfiaGene1 @EpiCARE_ERN @ERNIthaca @ZeynepTumer_DK @gaetan_lesca @ARZIMANOGLOUAL1 @stephane_auvin @malenicamasa96 @Marcotataglia @r_guerrini @rkalviainen Safe travels!

Next stop the annual @EpiCARE_ERN meeting in Utrecht ✈ Looking forward to discuss future collaborative projects and initiatives with @ERNIthaca 🤩 #StrongerTogether #Collaboration #EpilepsyAwareness 💜 #NeuroDevelopmentalDisorders #RareDisorders @ZeynepTumer_DK 🤗

@FiladelfiaGene1 @EpiCARE_ERN @ERNIthaca @gaetan_lesca @ARZIMANOGLOUAL1 @stephane_auvin @malenicamasa96 @Marcotataglia @r_guerrini @rkalviainen I look forward to new collaborations with @EpiCARE_ERN

@stromgaardlab Perfect gender balance @stromgaardlab

Impressions for our annual #project #reviews in beautiful and sunny Jægerspris. We discussed current and future projects, assessed the labs #performance and went through our 2nd order assignments… #productive and #constructive! Of course with #winetasting and good #food!

29 April 2023 Undiagnosed Day 2023 organized by #UDNI & #Wilhelm Foundation "All Undiagnosed should have a chance to get a diagnosis". "Leaving no one behind" More info undiagnosed-day.org #UDNI udninternational.org #rarediseases #Undiagnosed

EuroNDD Workshop Day 2👌 Learning disabilities, translational research, ethics, genetics🧬... chek out the meeting's program here ern-ithaca.eu/wp-content/upl… #EuroNDD #ERN