Annabelle Arlt @annabellearlt
rare disease gene discovery • neurodevelopmental disorders • gene therapy approaches 🧬🧠🐭 & IEI with syndromic features igsb.uni-bonn.de/en/team-1/memb… Bonn, Deutschland Joined May 2016-
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This is #ReNUsyndrome. Let us know which syndrome you are interested in!
In the scientific drawing session, we refined the ReNU sketch by removing the ptosis, reshaping the face into a more egg-like contour to suggest microcephaly, adding an esotropia and working out the distinctive appearance of the mouth. What do you think?
Save the date for #AGD2025: 10/11 of October and register today! agdev.de/tagung2025.html
How does GestaltMatcher Database make RARE data FAIR? 🔍📊 By making it ✨ Findable, Accessible, Interoperable and Reusable ✨! #FAIRdata #RareDisease #DataEthics #OpenScience
We're excited to see @GestaltMatcher featured in the April newsletter of ReNU Syndrome United! A big thank you to the ReNu community for including us and for connecting families, researchers, and clinicians 🧡 🔗 Newsletter: renusyndrome.org/newsletter-apr…
The team enjoying the view at #GfH 2025 🏔️☀️ Grateful for the inspiring conversations, fresh mountain air, and the wonderful genetics community!
Spotted at #GfH 2025! 🔎 Our team is at booth 29 (LIFE & BRAIN), ready to talk about all things GestaltMatcher. If you're at the conference, come say hi! 👋
We're heading to the 2025 #GfH Annual Conference! Join us at🔸BOOTH 29🔸to find out how GestaltMatcher can support rare disease diagnosis. See you in Innsbruck! 👋 👉 Don’t miss the last chance to pick up a copy of our TRANSLATE-NAMSE paper in Nature Genetics at the booth!
Just one big jump from the beach to #ACMGMtg25! 😉 It’s been amazing to enjoy this perfect blend of wonderful conversations, warmth, and waves. Thank you to everyone we’ve had the chance to talk to and @TheACMG for this incredible experience! We’re at booth 639, come say hi! 👋
Deadline extended❗Submit your dysmorphology case for #ESHG2025 until 18/3!Cases of distinctive/rare dysmorphic patterns, from low/middle income countries, with prior #GestaltMatcher analysis or of significant academic/educational value will be prioritized.buff.ly/IlXyXaq
Exciting news! 🎉 GestaltMatcher was featured on “Visite” (NDR)! 📺 Thank you for highlighting how AI can support the diagnosis of #RareDiseases and help patients find answers faster. 🧡 🔗 tinyurl.com/2ft6bkez
🦓 Today is Rare Disease Day! 🦓 We’re showing our stripes on the "Zebrastreifen" to stand with the 300 million people worldwide living with a rare disease. The zebra is a reminder that sometimes, it IS the rare diagnosis. #ShowYourStripes #RareDiseaseDay #LightUpForRare
Das Start-up-Projekt „Bone2Gene“ erhält eine Million Euro: Das Projekt von Forschenden der Universität Bonn und des UKB erhält eine Förderung des Programms GO-Bio initial vom Bundesministerium für Bildung und Forschung. #ukbonn ukbnewsroom.de/bone2gene-erha…
First ClinVar charts for 2025 of the Deps. of Med Genet at German university hospitals. A lot has happened! What's going on in Regensburg - new runner-up?! Heidelberg also seems to have finally been unleashed. Hannover is attacking Berlin and Bonn is venturing into the top half!
Yes, we can! Aron Kirchhoff conditioned a generative adversarial network (GAN) on the 20 most frequent disorders that are represented in the #GestaltMatcher database (GMDB). A picture is worth more than a thousand words. Thus, contact us, if you need an image for your gene!
In the scientific drawing session, we refined the ReNU sketch by removing the ptosis, reshaping the face into a more egg-like contour to suggest microcephaly, adding an esotropia and working out the distinctive appearance of the mouth. What do you think?
Many thanks to @GeneticsSociety for hosting this great conference! See you next time! #gestaltmatcher #ai #diagnostic
Find us at @GeneticsSociety! Already excited to meet you here in #Denver #humangenetics #ASHG2024 #GMDB
Milestones at the 2024 AGD Annual Meeting: First joint event with the Next Generation Sequencing Competence Network and sold out! We're also celebrating 40 years of AGD. Two exciting days ahead! 🎉 #AGD2024
The keynote by Andreas Till (BfArM) is currently taking place at the Joint Annual Meeting of the Association for Gene Diagnostics (AGD) and the NGS-CN! 🧬 Afterwards, we look forward to the second edition of the Alleles & Allies board game night! 🎲🃏 #AGD2024
Thrilled to share a new preprint on the role of RNU4-2 and RNU5B-1 variants in neurodevelopmental disorders, now online in MedRxiv. 1/12 🧵medrxiv.org/content/10.110…
MVGenomSeq is still operating in stealth mode with respect to data sharing. The best indicator for "heilen durch teilen" are still the #ClinVar submissions. Düsseldorf and Hannover climbed up a few ranks. Congrats!!
Enrique Ramirez @enriqueramgz
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P. Moritz Becher @moritz_becher
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Albrecht Clemens @ClemensAlb774
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Stefan Barakat @StefanBarakat
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Institut für Humange... @hug_leipzig
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JaniceWebb @v6lp0d9vG2Jw8u
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Daniel Bruehl @DanielcBruehl
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HamburgNeuro @HamburgNeuro
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Beatriz Nunes @beatriz_cnunes
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RareDiseaseGenomicsRS... @RareGenomicsRSA
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Kristiina Tammimies @KTammimies
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EBMT Trainee Committe... @TheEBMT_Trainee
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Simons Searchlight @s_searchlight
2K Followers 3K Following Accelerating research by collecting data/biosamples from ppl w/rare #genetic causes of #autism & other neurodev dis. Researchers can get data: https://t.co/kokQ7uLYWd
Reza Maroofian @RMaroofian
537 Followers 914 Following Geneticist at UCL Queen Square Institute of Neurology @UCLIoN. Interested in Rare Diseases, Neurogenetics & Genomic Medicine.
West German Genome Ce... @WGGC_de
349 Followers 286 Following Now on https://t.co/FexOpJVTti @UniBonn | @UniCologne | @HHU_de | @RWTH | @DZNE_de #ngscnwebinars #ngscnschool #hhu_biodata
Tom Wright @TWright_GenomeX
442 Followers 571 Following 🧬Clinical Genetics SpR/Resident (OOPR) | PhD Researcher @FBMH_UoM @mft_iMRare @ManchesterBRC #RareConditions #Genomics #MentalHealth |💗Husband/Dad/Son/Sib🎭🎨
GestaltMatcher (.eth) @GestaltMatcher
302 Followers 99 Following I am very good at recognizing patterns in the facial gestalt and would like to help you matching a patient.
Endure_Rare 💙💚�... @Endure_Rare
794 Followers 800 Following SYNGAP Dad, Clinical Lab Professional & Triathlete 140.6 living life with grace and peace knowing "someone's worst day is someone's best" #Syngap1 @cureSynGAP1
Emad @Mo_Dadashi
305 Followers 4K Following
Hung Lo 羅鴻 @HungLo_tw
1K Followers 2K Following Sys Neuro postdoc @lukesjulson, PhD @LabSchmitz study smell & eating🍩 #eLifeAmbassador, he/him, Existential crisis is my daily routine, @hunglo.bsky.social
Tse Dorothy @TseDorothyLab
1K Followers 3K Following Neuroscientist, Cognitive Psychologist in memory, dementia & ageing. Consultant. Reader. @FensKavliNet| @BritishNeuro| @acmedsci| @LNeuroscience| @theRSAorg.
CACNA1A Foundation @cacna1a
2K Followers 2K Following Nonprofit dedicated to a brighter future for those with CACNA1A variants. On a mission to fund life changing research while supporting families along the way.
Journal of Clinical G... @clincgenetics
585 Followers 4K Following
SE-ATLAS @se_atlas
299 Followers 346 Following Tweets rund um #SelteneErkrankungen und den se-atlas - Versorgungsatlas für Menschen mit Seltenen Erkrankungen. Red.: H. Storf @hstorf, J. Schäfer
Dr Anthony erkan @CarlosJohn70464
270 Followers 3K Following
Abby Turnwald (she/he... @PedsGCAbby
974 Followers 989 Following Pediatric genetic counselor, neurogenetics, advocate for the rare disease community, let’s talk about sibling health
Cambridge Bioscience @CambridgeBiosci
2K Followers 2K Following We're a leading distributor of cutting edge life science research products. Follow for the latest #bioscience news and #research
DLG4 SHINE @DLG4SHINE
198 Followers 174 Following DLG4-related Synaptopathy / SHINE Syndrome *Managed by the board of the DLG4 SHINE Foundation
Mike Graglia 🌻 @JMGraglia
7K Followers 2K Following CEO @cureSYNGAP1 🧬 Pod https://t.co/9jkDkMg5R8 🎧 Alum @GonzagaU @peacecorps @pdosoros @SAISHopkins @Columbia_Biz @IFC_org @bcg @gatesfoundation @newamerica
Michael Praktiknjo @MPraktiknjo
179 Followers 154 Following Senior Consultant | Clinician Scientist | Hepatologist Endoscopist | @UK_Muenster @MedB_Lab
Ashish Marwaha BMBCh,... @DrAshM2
1K Followers 2K Following Clinical Medical Geneticist 🇨🇦, immunogenetics, #T1D polygenic risk. #raredisease clinical trials. Tweets=own opinion
SYNGAP1 Global Networ... @SyngapNetwork
3K Followers 2K Following Global #SYNGAP1 @cureSYNGAP1 🇺🇸🇬🇧🇪🇺 @Syngap1A 🇦🇷 @SyngapAus 🇦🇺 @OSyngap1 🇨🇦🇫🇷 @syngap1Germany 🇩🇪🇦🇹@syngap1italia 🇮🇹 & 🇪🇸🇮🇳🇯🇵🇸🇪🇨🇭
Annalia @Annalia_here
14 Followers 291 Following
Patient Worthy @PatientWorthy
8K Followers 7K Following We're a resource for engaging, informative content and rare patient news, well done.
Florian Kraft @flokraft_
100 Followers 98 Following
Behnam Javanmardi @Javanmardi_B
342 Followers 381 Following Contributing to medical #AI. Busy with continuous learning. Head of the imaging group at @IGSBteam. Previously @CNRS @Obs_Paris. PhD in Astrophysics @UniBonn.
Jean Tori Pantel @jeantoripantel
82 Followers 169 Following MD at Uniklinik Aachen and PhD student at the Charité in Berlin #humangenetics #rarediseases #generalmedicine #digitalhealth #womeninscience
Nicky Whiffin @nickywhiffin
4K Followers 709 Following Associate Prof & Henry Dale Fellow @bdi_oxford @HumanGeneticsOx | Computational Rare Disease Genomics | Non-coding | @StAnnesCollege | @nickywhiffin.bsky.social
Trends in Genetics @TrendsGenetics
5K Followers 869 Following We've flown the nest. New papers are automatically posted here. Otherwise, join us over at Bluesky! https://t.co/isrJs5Rs9g
Stefan Barakat @StefanBarakat
710 Followers 491 Following Associate Professor at Erasmus MC. MD, PhD, Clinical Geneticist, interested in gene regulation and the non-coding genome, bridging research and patient care
Kaan Boztug @boztug_kaan
110 Followers 51 Following Physician Scientist. Hematologist, Oncologist, Immunologist. Immunodeficiency discovery enthusiast. Soccer fan. Views are my own.
Illumina @illumina
96K Followers 8K Following Dedicated to advancing human health by unlocking the power of the #genome. 🧬
Schultze Lab @LabSchultze
2K Followers 2K Following **Account no longer active** Our lab @DZNE_en studies immunology,metabolism&neuroscience using single-cell omics&bioinformatics.
Kaan Boztug @KaanBoztug
328 Followers 89 Following Physician Scientist. Pediatric Hematologist, Oncologist, Immunologist. Immunodeficiency discovery enthusiast. Soccer fan. Views are my own.
Dt. Ges. f. Rheumatol... @DGRh_Tweets
758 Followers 353 Following Hier twitterte die Deutsche Gesellschaft für Rheumatologie u. Klinische Immunologie (DGRh). Impressum: https://t.co/dTnqujdrKu Datenschutz: https://t.co/oV4nFgbVtB
Mind Essentials @Mind_Essentials
1.4M Followers 25 Following Self-Discipline | Philosophy Thoughts | Psychology Hacks | Wealth & Wisdom | Acceptance | Awareness. DM for high-quality paid promotions & collabs
Ammos Beach Bar kos @AmmosKos
134 Followers 0 Following
Alexandre Reymond @AlexReymondESHG
258 Followers 68 Following Human geneticist, Prof at the Center for Integrative Genomics, University of Lausanne, chair of the ESHG scientific program committee
AG Junge Rheumatologi... @rheumadocs
594 Followers 198 Following Arbeitsgemeinschaft junger deutscher Rheumatologen in der DGRh | Innovation, Education, Networking —- sources: https://t.co/oEJx2RXjq7, https://t.co/CoKDUyp3Js
Enrique Ramirez @enriqueramgz
216 Followers 1K Following
Prof. Dr. Valentin S.... @Prof_V_Schaefer
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IPOPI @ipopi_info
3K Followers 1K Following IPOPI is the association of Primary Immunodeficiency national patient organisations. Improving awareness, access to early diagnosis and optimal treatments.
UKE Hamburg @UKEHamburg
3K Followers 71 Following Wissen – Forschen – Heilen durch vernetzte Kompetenz: Das UKE. Instagram: uke_hamburg
HamburgNeuro @HamburgNeuro
664 Followers 1K Following HCNS constitutes a network of neuroscientific activites in Hamburg from the molecular level to clinical research.
JoVE @JoVEJournal
34K Followers 735 Following The world's leading peer-reviewed, PubMed-indexed scientific video journal. We're solving the reproducibility crisis and changing how science gets done.
Southern African soci... @SAHumanGenetics
551 Followers 99 Following A multidisciplinary, non-discriminatory society whose mission is to advance human genetics science practice in Southern Africa.
Fizza Akbar @Fizzakbar
1K Followers 984 Following Genetic Counselor & Genomics Researcher, Senior Instructor @AKUGlobal MSc. Genomic Medicine, Grad Cert. Alumnus @FCCollege @OfficialUoM @UBC🧬🇵🇰
Denis Schmidt @shmiddi
8 Followers 29 Following
Immune Deficiency Fou... @immunedeficienC
26K Followers 1K Following The Immune Deficiency Foundation improves the diagnosis, treatment, and quality of life of people affected by primary immunodeficiency.
cohesin_papers @cohesin_papers
2K Followers 1 Following Pubmed RSS paper feed on cohesin and its 'friends': condensin, Smc5/6, Scc2 (NIPBL), Scc4 (Mau2) and MukBEF.
AJMC @AJMC_Journal
7K Followers 888 Following The American Journal of #ManagedCare is a peer-reviewed, indexed publication. https://t.co/I2WRhmhOVC offers news in health policy, disease states, and managed care.
Beatriz Nunes @beatriz_cnunes
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Immunodeficiency UK @ImmunoUK
2K Followers 162 Following Helping and giving advice to people living with primary or secondary immunodeficiency. Arming them with the knowledge to manage their condition effectively.
Cas van der Made @CasvdMade
118 Followers 196 Following PhD-student with a focus on immuno-genomics Resident in Internal Medicine
Fatih Alpkıray @falpkiray
258 Followers 660 Following -İstanbul Tıp Fakültesi -İstanbul Tıp Fakültesi Pediatri -Ankara Üniversitesi Çocuk Alerji ve İmmünoloji
ESID @ESIDsociety
3K Followers 414 Following European Society for #Immunodeficiencies | PID | Diagnosis-Treatment-Management | Foster Research-Cooperation-Education | Join us at #interplay2025 Meeting!
Pharming Group NV @PharmingGroupNV
354 Followers 0 Following Pharming develops innovative protein replacement therapies and precision medicines for the treatment of rare diseases and unmet medical needs. HAE-GLO-2021-0008
Arbeitsgemeinschaft P... @kinderimmu
54 Followers 104 Following API ist eine Arbeitsgemeinschaft von Ärzten & Wissenschaftlern aus Deutschland, Österreich & der Schweiz. Wir setzen uns für Erforschung des Immunsystems ein.
Kristiina Tammimies @KTammimies
620 Followers 760 Following Group Leader @karolinskainst #genetics #neurodevelopment #precisionmedicine, tweets in 3 languages, opinions are my own
Anton Windfelder @AntonGeorgeM
234 Followers 927 Following PI working with Alternative Models🐛🐁for Medicine and Medical imaging @Fraunhofer_IME & Experimental Radiology @UKGM #ReplaceRefineReduce
Heinrich-Heine-Univer... @HHU_de
8K Followers 719 Following ⚠️ Dieser Account ist stillgelegt. #NoMoreInteraction Nachrichten/Infos rund um die HHU bei @hhu.bsky.social und als @HHU_de auf allen weiteren Kanälen.
FRAXA Research @FRAXAresearch
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108 Followers 88 Following Accelerating the development of disease-modifying treatments for #ARID1B-RD (haploinsufficiency) - the most frequently mutated gene in de novo NDDs (ASD, ID).
Fragile X Society, UK @fragilexuk
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Fragile X Internation... @FraXI_FragileX
127 Followers 67 Following Celebrating and supporting those living with Fragile X Syndrome and Fragile X Premutation Associated Conditions around the world.
Reza Maroofian @RMaroofian
537 Followers 914 Following Geneticist at UCL Queen Square Institute of Neurology @UCLIoN. Interested in Rare Diseases, Neurogenetics & Genomic Medicine.
Kabuki Syndrome Found... @kabukisyndrome
188 Followers 155 Following KSF is driving research for this rare disease through fundraising, knowledge-sharing, and collaboration. Join us to learn more and take action.
GeneMAP Research Cent... @GeneMAPOfficial
2K Followers 80 Following Genetic Medicine of African Populations (GeneMAP) Research Centre. #Genetics #Genomics #Rarediseases #hearingimpairment #SickleCell; #Ethics, #CapacityBuilding
Centre for Genomic Re... @CRGenomica
22K Followers 2K Following We are an international biomedical research lab based in Barcelona, a unique and interdisciplinary centre at the forefront of life sciences. We are @icerca
West German Genome Ce... @WGGC_de
349 Followers 286 Following Now on https://t.co/FexOpJVTti @UniBonn | @UniCologne | @HHU_de | @RWTH | @DZNE_de #ngscnwebinars #ngscnschool #hhu_biodata
Tom Wright @TWright_GenomeX
442 Followers 571 Following 🧬Clinical Genetics SpR/Resident (OOPR) | PhD Researcher @FBMH_UoM @mft_iMRare @ManchesterBRC #RareConditions #Genomics #MentalHealth |💗Husband/Dad/Son/Sib🎭🎨
EBMT Trainee Committe... @TheEBMT_Trainee
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Nico Gagelmann @NicoGagelmann
50K Followers 267 Following Hematology. Medicine. Science. Train. Think. Implement an integral actuality.You might like
