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It’s today! Last day to submit your case for presentation in one of the Dysmorphology Workshops at the hybrid #eshg2024 conference. Check the details and submit now: 2024.eshg.org/programme-at-a…
📢 Calling #Genetics social media enthusiasts! 1) Will you be joining #ESHG2024 in Berlin / online? 2) Do you want to join our dynamic SM committee? 👥Connect with people 📱Enjoy #ESHG2024 as part of the team 🗣️Increase your followers DM @JamesFasham or write [email protected]
Deadline extended! Submit your case for presentation in one of the Dysmorphology Workshops at the hybrid #eshg2024 conference until April 16, 2024 23:59 CEST. Check the details and submit now: 2024.eshg.org/programme-at-a…
Today is the last day to register at the reduced fee! Join us in Berlin or online for the #eshg2024 #hybridconference! Register today until 23:59 CEST: 2024.eshg.org/registration/
Join us in Berlin or online for the #eshg2024 #hybridconference! 2 days left to register at the reduced rate until April 10, 2024 at 23:59 CEST before fees increase! 2024.eshg.org/registration/
The #ESHG Education Committee is on the lookout for enthusiastic members to lead our Mentorship & Observership Program as well as Podcasts & Digital Learning initiatives. If you're passionate about #education and #genetics, apply now! Deadline: May 3rd tools.medacad.org/index.php/eshg…
The Scientific Programme Committee invites you to submit a Breaking Abstract for inclusion in the "Late Breaking Abstracts" Concurrent Session on Monday, June 3, 2024. The deadline for submission is April 18, 2024, 23.59 h CEST (no extension,no exceptions) 2024.eshg.org/abstracts/brea…
Case Submission for the Dysmorphology workshops #eshg2024 until April 10! Cases of distinctive/rare dysmorphic patterns, from low/middle income countries, with prior #GestaltMatcher analysis or of significant academic/educational value will be prioritized! 2024.eshg.org/programme-at-a…
Have you already submitted your abstract of consented,distinctive unsolved or instructive solved cases to #eshg2024?The best case presentation from a trainee in medical/clinical genetics will be awarded the Dian Donnai&Jill Clayton-Smith prize! Submit here wma.eventsair.com/PresentationPo…
ESHG Dysmorphology workshops in new form! Submit your cases to be presented at the hybrid #eshg2024 conference in Berlin until April 10. Shortlisting of presentations will be based on expert review. More information: 2024.eshg.org/programme-at-a…
🎉Congratulations to @ahoischen of @radboudumc! He receives the NWO Vici grant for research into genetic disorders where the immune system is impaired: radboudumc.nl/en/news-items/…
Join us for the pre-conference Workshop on History in Genetics on May 30-31! Explore fascinating historical aspects of human and medical #Genetics. Contributions welcome - Submit your abstracts until 28 February. More information here: 2024.eshg.org/satellite-meet… #genomics #genomes
Abstract submission deadline is today! Make sure you submit your abstract today until 23:59 hrs CET for inclusion in the programme of #eshg2024 #hybridconference! More information on: 2024.eshg.org/abstracts/ #genetics #genomics
Abstract submission deadline extended to Tuesday, February 6, 23:59 hrs CET (no exceptions). Last chance to submit an abstract for inclusion in the programme of #eshg2024 #hybridconference! More information on: 2024.eshg.org/abstracts/ #genetics #genomics
6 more days until the abstract submission deadline for #eshg2024 #hybridconference! Do not forget to submit your abstract until Thursday, February 1, 2024, 23:59 hrs CET. All information can be found on our website: 2024.eshg.org/abstracts/
You would like to read through the abstracts of #eshg2023? The Abstract books have now been published and are available in the Abstract Collections of @ejhg_journal accordingly: nature.com/ejhg/articles?… #genomes #genetics
3 more weeks until the abstract submission deadline for #eshg2024 #hybridconference! The Scientific Programme Committee invites you to submit an abstract for inclusion in the programme. All information can be found on our website 2024.eshg.org/abstracts/ #genetics #genomics
We wish you all a festive holiday season and a Merry Christmas. Looking forward to see you all again at #eshg2024 in Berlin!
The #eshg2023 virtual platform is now closed. You can find all educational and plenary sessions on our YouTube channel: youtube.com/channel/UCcllg… #eshg2023 #genetics #genomes
Abstract submission for #eshg2024 is open! The Scientific Programme Committee invites abstracts to be submitted for inclusion in the programme as posters or oral presentations until 1st February 2024. More information found on the conference website: 2024.eshg.org/abstracts/
Veera Rajagopal @doctorveera
17K Followers 4K Following MBBS, MD, PhD | GWAS storyteller | Scientist at Regeneron | Human genetics & drug discovery in Neuroscience & Psychiatry | He/Him
Cecilia Lindgren @ceclindgren
8K Followers 999 Following Director of Oxford Big Data Institute. Proud mom of 3. Co-chair of @icdabio. Wellcome Trust Investigator. Promoting equality in academia. Love 🦈. #🕷🕸💙
Genetics in Medicine @GIMJournal
16K Followers 3K Following Genetics in Medicine, an official journal of @TheACMG Site use policy: https://t.co/gMGoSv2TJY. Cover Photo: Bridge over the Ure by Peter Freeman
Genomics Education @genomicsedu
23K Followers 2K Following NHS England's Genomics Education Programme. Providing knowledge, skills and experience in #genomics #NHSgms #genomes100K #NHS #GenomicsConversation
James Fasham @JamesFasham
3K Followers 3K Following 🧬👨⚕️Genetics doctor & PhD 💻 💬 Social media: @ESHGsociety @JMG_BMJ and @BritSocGenMed. 🤖 @DiseaseGenes bot creator (#Genetics #Genomics #RareDisease)
Konrad Platzer @platzer_k
1K Followers 392 Following Institute of Human Genetics @hug_leipzig @UKL_Leipzig • 👨💻 neurodevelopmental disorders (w/ epilepsy) 🧠 • rare diseases • gene discovery • apprentice in 📸
Abdel Abdellaoui @dr_appie
9K Followers 2K Following Complex Trait Genetics | Population Genetics | Evolutionary Genetics | @AmsterdamUMC | @UvA_Amsterdam
Andrea ganna @andganna
3K Followers 604 Following Associate Prof in health data science @HiLIFE_helsinki @FIMM_UH - MGH/Harvard - Playing with all kind of data - https://t.co/BffgAbQTls
DiseaseGenes @DiseaseGenes
1K Followers 124 Following I tweet new human disease-gene associations. Let me know if I miss one! (tweet #MorbidGene) Creator: @JamesFasham #Genomics #RareDisease #Genetics
A/Prof Jodie Ingles @jodieingles27
8K Followers 3K Following Head, Clinical Genomics Lab | Program Director, Genomics & Inherited Disease @GarvanInstitute | Cardiac Genetic Counsellor | Swiftie | Opinions my own
Nature Reviews Geneti.. @NatureRevGenet
92K Followers 225 Following Publishing reviews and commentaries across the fields of genetics and genomics. Part of @SpringerNature and @NaturePortfolio. Tweets are from the editors.
Richarda de Voer @RMdeVoer
464 Followers 546 Following Scientist | Cancer genomics | Human Genetics | Radboudumc | Breda | Dutch
Nicky Whiffin @nickywhiffin
4K Followers 758 Following Associate Prof & Henry Dale Fellow @bdi_oxford @HumanGeneticsOx | Computational Rare Disease Genomics | Non-coding | @StAnnesCollege | @nickywhiffin.bsky.social
Unique @Unique_charity
8K Followers 2K Following Unique supports & informs anyone born w/a rare chromosome or gene disorder, their families & carers. Eurordis Patient Organisation Award winner. https://t.co/GkIBlYg5c5
Genomics England @GenomicsEngland
30K Followers 2K Following We’re working to enable faster and deeper genomic research, to bring genomic healthcare to all who need it.
Solve-RD @Solve_RD
2K Followers 403 Following Solve-RD is a H2020 funded flagship EU project. We will solve large numbers of rare diseases, for which a molecular cause is not known yet.
Elfride De Baere @elfridedebaere
2K Followers 3K Following Rare eye & developmental diseases, IRD, non-coding genome, multi-omics, treatments. @ProgRET_MSCA coordinator https://t.co/ttWQw549Sf @RAREMED1 @FWOVlaanderen
Alexander Hoischen @ahoischen
2K Followers 605 Following Genomic technologies: WES/WGS, longreads, somatic mutations; Immuno-genomics: rare diseases; immunodeficiencies; inborn errors of immunity; clonal hematopoiesis
Zoe Khaw @KhawZoe
25 Followers 91 Following Research Assistant at U. of Surrey Appl. Genomics MSc @ ICL '22 Molecular Genetics BSc @ KCL '21 I rt things I find interesting and funny 🦠
John Maguire @JCMaguire
94 Followers 267 Following Clinical Scientist & PhD.Interested in clinical & experimental Visual Electrophysiology, based in the Children's Neuroscience Centre @CHI Crumlin. Views my own.
Fatimah Safieh @FatimahSafieh
55 Followers 414 Following MS. student in Human Genetics at Bilkent University
Lin ZHANG @linzhang8385
811 Followers 2K Following Assistant Professor in The Chinese University of Hong Kong. Fascinating on Host & Microbe. Per aspera ad astra✨
skygen-bio/testkits @skygenbio62582
7 Followers 270 Following we have more than 50,000 kinds of self-produced scientific research reagents, including more than 20,000 kinds of PCR and LAMP testing products.
Lydia Rader @LydiaRader
466 Followers 768 Following PhD candidate @IBG_CUBoulder | Psych, genetics, & neuroscience | @Scipolnetwork policy & diplomacy | @APA rep | @KnowingNeurons team lead
Graham Lough @GrahamLo_Resp
29 Followers 316 Following Research scientist at Respiratory Effectiveness Group. Interest in RWE / genomics / risk / epidemiology / ILD and that sort of thing.
Sergi Castellví Bel .. @scastellvibel
277 Followers 346 Following Group leader @idibaps | Hereditary gastrointestinal cancer | EU @stepupiors @Barcelona_cat | @PRISMAciencia
Huw Dorkins @HuwRD
5 Followers 33 Following
zinomi @zinomi240417
6 Followers 5 Following
Eva Fain research foc.. @eva3034385615
880 Followers 2K Following I am on twitter to find new research. I resent anyone attempting to use A I to upload my research. Beware! I have friends who created the internet.
Ria Patel @Ria_Patel589
12 Followers 35 Following 4th year UCL medical student. iBSc (hons) in Paediatrics and Child Health.
Genome Debate X @genomedebate
1 Followers 14 Following Genome Debate X is an open place to discuss and learn about Medical genetics advances. We encourage knowledgeable people to debate on the posted topics.
We Raise ℂℍ𝔸�.. @CHAMP1Gene
626 Followers 2K Following We are a worldwide patient support group for families like ours affected by the CHAMP1 gene mutation.
Tô Thị Thùy Ninh @ninh_to81710
8 Followers 12 Following
益子焼 @Seisei_ruten_45
0 Followers 111 Following
전종범 @jongbumj
17 Followers 255 Following
Yuyang Chen @quenchentin
111 Followers 49 Following PhD student - Computational Rare Disease Genomics group with @nickywhiffin, Big Data Institute, University of Oxford (https://t.co/bfBM3lqX75)
BeSHG @BeSHGenet
33 Followers 27 Following
ISBB 2025 @isbb2025
13 Followers 219 Following
Ilaria iuliani @IlariaIuliani
30 Followers 522 Following
Anaita Kanga-Parabia @AnaitaKP
116 Followers 304 Following She/her. PhD student @UniMelbMDHS @MCRI_for_kids. Genetic counsellor @TeamVCGS. Reproductive genetics. Health equity. All views my own. 🧬🌻
Damien Lederer @LedererDamien
5 Followers 7 Following
IbnSina @SadraErfan
14 Followers 259 Following
dp k @Abs1233210
8 Followers 941 Following
Nicolas I. Hagenau @gorelka2024
232 Followers 1K Following
Giselle Gonzalez @gissyggarcia
723 Followers 825 Following PhD student at Concordia University & School of Irish Studies / Political views are my own
Ayesha N Shaikh @AyeshaNShaikh
1K Followers 1K Following Incoming resident Peds/Genetics @WUSTL| MBBS Alum 2022 @Akuglobal| AI enthusiast | Music lover| Exploring the world one step at a time. #medicineandmore
Floris Imhann @FlorisImhann
150 Followers 184 Following resident clinical genetics; postdoctoral gut microbiome researcher; husband; father; snowboarder
Petar Ozretić @o22i3
131 Followers 1K Following Molecular biologist working in the field of molecular oncology (and beyond) @institutrb #incervisiaveritas
Shu Wan @slissw
1K Followers 5K Following PhD student at UB studies disability and deaf history in East Asia and North America in the 19th and 20th centuries.
jorge rodriguez @jorrodcan
29 Followers 388 Following
Javier de Nicolás-He.. @denicolasj
22 Followers 36 Following PhD student at the Spanish National Cancer Research Center - CNIO. Kidney Cancer & (Pharmaco)Genomics
Ugochi Esther Godwin @E_v_a_blue
15 Followers 146 Following Real Believer Music🎵 and Dance💃🏽 Lover Motivational Speaker Geneticist loading.... Aries♈ Lover of good vibes only
Arcensus @arcensus
147 Followers 57 Following Arcensus is an innovative start-up healthcare company dedicated to the early medical diagnosis of all genetic diseases and dispositions.
NGS-CN @NGSCN_de
173 Followers 208 Following Next Generation Sequencing Competence Network (NGS-CN) @WGGC_de, @NCCTuebingen, @DcGenomeCenter and @CcgaKiel #ngscnwebinars #hhu_biodata #ngsexplainpodcast
Nikki Trim @nix13001
34 Followers 321 Following Senior Clinical Scientist in Molecular Pathology with an interest in genomic medicine and a penchant for fancy dress parties.
Estela @siploutebanyes
1 Followers 24 Following
Borh777 @borh7777
1 Followers 413 Following
HAIYING HUANG @HAIYINGHUA95622
51 Followers 574 Following
Marianne Lemée @MVictoriaKelly
130 Followers 500 Following PhD candidate in neurogenetics, Dr. Golzio's lab at @IGBMC 🐟🧬 EUR IMCBio/University of Strasbourg @UNISTRA, France Also creating SciArt 🎨🖌️
Evgeniya Kim @Zhenya_vic
3 Followers 17 Following
David Curtis @davecurtis314
67 Followers 88 Following Retired psychiatrist carrying out research in human genetics. Publications here: https://t.co/UWgVuMbCOY
Gen.au Gen.ommen @Gen_auGen_ommen
20 Followers 22 Following
aaactcgcgcgcgcg ☀�.. @wir_sching
1K Followers 880 Following Biologist, left-wing, feminist, atheist 💜🤍💚🧬☀️🐈🦕🍓☕🖋️☘️📚 Biologin (medizinische Genetik) & ostdeutsches Heidenkind #SpaßMitStudien
S Shahin, MD @shahinsis
164 Followers 608 Following Female Indian Muslim Doctor (no particular order) 1st elected female GenSec RDA, AMU (‘19) Fellow Molec Hemat ACTREC, TMC #PathTwitter #Hematology #Molecular
Oscar Gu @OscarGu49725271
1K Followers 5K Following Deseo estés Saludable, Disfrutes Cada Día, Tengas una Vida Plena.
Cecilia Lindgren @ceclindgren
8K Followers 999 Following Director of Oxford Big Data Institute. Proud mom of 3. Co-chair of @icdabio. Wellcome Trust Investigator. Promoting equality in academia. Love 🦈. #🕷🕸💙
Genomics Education @genomicsedu
23K Followers 2K Following NHS England's Genomics Education Programme. Providing knowledge, skills and experience in #genomics #NHSgms #genomes100K #NHS #GenomicsConversation
James Fasham @JamesFasham
3K Followers 3K Following 🧬👨⚕️Genetics doctor & PhD 💻 💬 Social media: @ESHGsociety @JMG_BMJ and @BritSocGenMed. 🤖 @DiseaseGenes bot creator (#Genetics #Genomics #RareDisease)
Konrad Platzer @platzer_k
1K Followers 392 Following Institute of Human Genetics @hug_leipzig @UKL_Leipzig • 👨💻 neurodevelopmental disorders (w/ epilepsy) 🧠 • rare diseases • gene discovery • apprentice in 📸
A/Prof Jodie Ingles @jodieingles27
8K Followers 3K Following Head, Clinical Genomics Lab | Program Director, Genomics & Inherited Disease @GarvanInstitute | Cardiac Genetic Counsellor | Swiftie | Opinions my own
Nature Reviews Geneti.. @NatureRevGenet
92K Followers 225 Following Publishing reviews and commentaries across the fields of genetics and genomics. Part of @SpringerNature and @NaturePortfolio. Tweets are from the editors.
Unique @Unique_charity
8K Followers 2K Following Unique supports & informs anyone born w/a rare chromosome or gene disorder, their families & carers. Eurordis Patient Organisation Award winner. https://t.co/GkIBlYg5c5
Genomics England @GenomicsEngland
30K Followers 2K Following We’re working to enable faster and deeper genomic research, to bring genomic healthcare to all who need it.
Mike Inouye @minouye271
7K Followers 450 Following Computational biologist. Geriatric millennial. American Australian. Professor @Cambridge_Uni. Director of Data Sciences @BakerResearchAu. Director @CamBakerSGI.
Elfride De Baere @elfridedebaere
2K Followers 3K Following Rare eye & developmental diseases, IRD, non-coding genome, multi-omics, treatments. @ProgRET_MSCA coordinator https://t.co/ttWQw549Sf @RAREMED1 @FWOVlaanderen
Alexander Hoischen @ahoischen
2K Followers 605 Following Genomic technologies: WES/WGS, longreads, somatic mutations; Immuno-genomics: rare diseases; immunodeficiencies; inborn errors of immunity; clonal hematopoiesis
Asociación Española.. @AEGHgenetica
5K Followers 499 Following La AEGH está formada por más de 1.300 profesionales que se dedican a la Genética Humana. 🧬 Luchamos por el reconocimiento de la #EspecialidadGenéticaYA
Christel Depienne @ChristelDepienn
961 Followers 843 Following Molecular geneticist | Neurogenetics | repeat expansions | chromosome X | French expat 🇫🇷🇩🇪🇪🇺| Mum of 2
Genetic Counselors @GeneticCouns
15K Followers 641 Following National Society of Genetic Counselors (NSGC) is the leading voice, authority and advocate for the genetic counseling profession. RT does not equal endorsement.
Exeter Rare Disease @RDExeter
2K Followers 1K Following Prof Andrew Crosby, Prof Emma Baple & team @ExeterMed defining the genomic & molecular basis of rare diseases. https://t.co/tOiyuM6pYT
ASHG @GeneticsSociety
52K Followers 323 Following The American Society of Human Genetics (ASHG) is the world's largest professional membership organization for human genetics & genomics specialists.
Front Line Genomics @FLGenomics
12K Followers 5K Following Join us in uniting the Genomics community! Our goal is to deliver the benefits of genomics to patients faster
Serena Nik-Zainal @SerenaNikZainal
8K Followers 650 Following Professor of Genomic Medicine | #NHS | needs regular snacks | delivers an effective roundhouse kick | Though she be but little, she is fierce
Shu Wan @slissw
1K Followers 5K Following PhD student at UB studies disability and deaf history in East Asia and North America in the 19th and 20th centuries.
Dhruv Chaturvedi @dhruv_chat
110 Followers 1K Following Corporate Development at Congenica | UCL Biochemistry | Digital Health 🏥 | Biotech 🧬
Sean Hegarty/Seán Ó.. @higgsey99
29 Followers 437 Following
Tamreez khan 🇵🇰 @khan_tamreez
40 Followers 1K Following Master of Philosophy in Zoology, Animal nutritionist, Educationist,
wtc @ChogaWonderful
15 Followers 345 Following
Casey @Yesacleigh
71 Followers 328 Following
Pegah Hejazi @phgenomic
199 Followers 541 Following
Scott_lab_GMP @scott_lab_gmp
353 Followers 445 Following Lab in Genetics and Molecular Pathology, integrating research and diagnostics on projects ranging from early development until (blood) cancer progression.
A/Prof Gina Ravenscro.. @Gianina_Natoli
2K Followers 3K Following NHMRC EL2 Fellow | Honorary Patricia Kailis Fellow | Mum,scientist,wife (Alphabetical Order) | Rare diseases & neurogenetics.
Alexandre Reymond @AlexReymondESHG
250 Followers 70 Following Human geneticist, Prof at the Center for Integrative Genomics, University of Lausanne, chair of the ESHG scientific program committee
Tom Wright @TWright_GenomeX
358 Followers 977 Following Manchester BRC PhD Candidate | Clinical Genetics Specialty Registrar OOP | Genomics | Rare Conditions | Mental Health | Husband | Dad | Family | Creative
Gabbi Cohen @gabbicohen_
659 Followers 1K Following Digital Clinical Implementer - ePROMs lead | MSc Genomic Medicine | Genomics Clinical Fellow | Education Coach | Associate Lecturer
Jake ⓥ Miller @x2scoops
167 Followers 272 Following Genetic Technologist. Occasional Shootist. Southpaw. Rōnin. 100% caffeine assisted. #NHS #Genomics All views are my own
James Poulter @jamesapoulter
634 Followers 1K Following #UKRIFLF & University Academic Fellow @LIMRLeeds, researching neurodevelopmental disorders using organoid models, structural and molecular biology.
Jamie Ellingford @j_ellingford
981 Followers 465 Following Trying to unpick role of the human genome in disease👨🏻🔬🧬🖥 || Snr. Research Fellow @EGS_UoM || Lead Genomic Data Scientist - Rare Disease @GenomicsEngland
Stuart Wright @sjwright17
602 Followers 340 Following Health Economist (University of Manchester) interested in capacity, uptake, and implementation generally, Football (Arsenal) and Hockey (Senators) Fan
NWGMSA @nwgmsa
1K Followers 1K Following NHS North West Genomic Medicine Service Alliance - a network created to deliver the benefits of genomics for the people of the North West of England
Encarna Guillén @encarna_guillen
7K Followers 4K Following Pediatra, Genetista Clínica @AreaUnoArrixaca @murciasalud @UMU @IMIB @CIBERER @AEGHgenetica #RareDiseases
Helen Firth @HelenVFirth
302 Followers 91 Following
Dr Claire Brough @CardiacClaire
312 Followers 287 Following Inherited cardiac conditions, devices, sports cardiology MBChB (Hons) MRCP AHEA MD (Res) CCDS
Dan Carr @daniel_f_carr
307 Followers 288 Following Senior Lecturer, pharmacogeneticist, drug safety scientist, interest in Stevens-Johnson syndrome, husband, dad, views my own.
Rory Tinker @rozatinker
543 Followers 629 Following Pediatrics and medical genetics resident at VUMC. Trying to make the world a better place to live with a genetic disease. Views my own
Chris Kershaw @Little_Kersh
199 Followers 289 Following Healthcare Scientist working in the NHS. Dad-Scientist-Runner of long distances
(Elizabeth) Emma Palm.. @emmagenetics
946 Followers 826 Following Clinical Geneticist and researcher. Aims to do inclusive research with those with lived experiences enabling person-centered strengths-based rare condition care
Stephen Ball @sball_endo
2K Followers 273 Following Recently retired Professor of Medicine & Endocrinology, Manchester. Cares about high-quality clinical services, training, research, innovation & implementation
Amanda Pichini @AmandaPichini
1K Followers 948 Following Genetic counsellor 🧬 - works at @GenomicsEngland - proud Canadian 🍁 - loves a good food market - own views
Emma Woodward @ER_Woodward
634 Followers 2K Following Clinical Geneticist. Tweets, re-tweets, likes are my own.
Kartik Chundru @kartikchundru
237 Followers 466 Following Postdoc at @UniofExeter. Former postdoc @sangerinstitute. Working on the integration of 'omics data into burden testing frameworks. @chundru.bsky.social
Beth Coad @Beths_DNA_Coad
573 Followers 875 Following Registered Genetic Counsellor. Honorary Clinical Lecturer in Cancer Genomics. Decoding genetics for anyone who will listen. Views are my own. she/her 🧬🏳️🌈
Dr Katherine Wood @katherineawood9
733 Followers 1K Following Development Scientist @nanopore. Former postdoctoral researcher @MRC_WIMM. Mum to a beautiful little boy and long-distance runner. All views/opinions my own.
josej_gepanaga @jjj_gepanaga
120 Followers 282 Following ▪️Bioeconomy,Innovation, and Governance▪️little bit of Molbio/ Biochem ▪️ photos ▪️he/him ▪️views are MY OWN ▪️chaotic #Chevening 🇵🇭 at Univ of Edinburgh🇬🇧
Vishakha Tripathi @VishTrip_11
726 Followers 979 Following Genetic Counsellor, ex-medic ❤️ Innovation; Leadership & Strategy. Equality matters. Founder: DNA_Connect🐴 lover; ⚽️ fanatic. Views my own not my employers.
Arti Patel @Arti_K_Patel
735 Followers 608 Following Tweets about Genomics, BCH Implants, Treacher Collins Syndrome, Rare Disease. Views my own.
Bert Callewaert @CallewaertBert
245 Followers 373 Following Associate professor Ghent University Head of Clinic, Ghent University Hospital Senior Clinical Investigator of the Research Foundation - Flanders
Gulcin Gumus @gulcingumus1
593 Followers 618 Following Molecular biologist and geneticist & Research and Policy Senior Manager @eurordis Rare Diseases Europe #genomics #diagnosis #newbornscreening #patientadvocacy
⭐ Rhys Dore ⭐ @rhysdore
1K Followers 951 Following NIHR ACF & SpR in Clinical Genetics @KingsCollegeLon @gsttNHS Rare Diseases 🦓 RNA 🧬 Bioinformatics 💻 @UKYoungAcademy @eshg_young he/him 🏳️🌈 ✊🏾
Mariangels Ferrer Duc.. @MariangelsRive1
356 Followers 995 Following Chartered Clinical Psychologist, Narrative and Family Therapist “When you have to make a choice and don't make it, that is in itself a choice” William James
ERN-EYE @ErnEyeEU
1K Followers 215 Following https://t.co/hGZjQCukos - ERN-EYE is a European Reference Network dedicated to Rare Eye Diseases.
Carla Oliveira’s La.. @COliveiraLabi3S
172 Followers 113 Following Mentally in gastric cancer, genetics, iPSCs, bioinformatics, chromatin architecture, organoids Physically @i3S_UPorto
The Neurogenetics Lab.. @IonSynapse
903 Followers 849 Following The Neurogenetics lab @UCLION led by Professor Henry Houlden is dedicated to discovering new genes and disease mechanisms linked to neurological disorders
Ruth Horn @horn_ruth_
1K Followers 275 Following Associate Professor, The Ethox Centre, University of Oxford. Deputy Director Ethics in Medicine, University of Augsburg
Christian Schaaf @cpschaaf
1K Followers 772 Following Medical Director and Department Chair, Institute of Human Genetics, University of Heidelberg * Father * Husband * Physician * Scientist * Writer *
Junge Humangenetik @juhumgen
465 Followers 170 Following Initiative of young human geneticists in Germany. Genetic counselors, clinical & basic researchers. Views are our own.
James 🏴�.. @JamesStevePatt1
113 Followers 2K Following
Deepak Tanwar @d_k_tanwar
1K Followers 3K Following Scientist at @uzh_evolution A massive binf. #rstats #methodsmatter Alumnus of @eth_en (@Swiss_FCS former fellow), @mcgillu, @UABNews, @UniJena, @AmityUniJaipur
Charalabos Antonatos @chantonatos
28 Followers 88 Following Post-graduate student at University of Patras, GreeceLast chance to register for our online course! All lectures will be online next week (and remain online for several months). You can use a chat to ask questions to lecturers. Only 50€ registration cost - for a world class line-up of speakers. eshg.org/bertinoro0-1
EVENTO | La @AEGHgenetica organiza la I Jornada Comisión de Enfermedades Raras para celebrar el Día Internacional del ADN 🧬destinada al diagnóstico y puesta en conocimiento de nuevas iniciativas. 📅 23 de abril 🕘 17 horas ✍️ Inscripciones online: acortar.link/ShhNfB
Not to forget #lochNESS Let's go for next generation functional genomics 🚀
Followed by a great talk of @malte_spielmann about the importance of #singlecell technologies for human genetic diseases. About #MOCA #TOME #STIGMA and other cool tools 🌝 @BeSHGenet #BeSHG2024
Congrats on the well deserved presentation prize! 🎉👏🎉
@BeSHGenet @Bouckaert_M kicked off the parallel @BeSHGenet sessions with an exciting talk on #ASO therapy targeting a 5'UTR mutation of a retinal disease gene 🧬 👁️ @RAREMED1
@LudeFranke links common and rare diseases via gene regulatory networks #GRN 👇
Followed by a great talk of @malte_spielmann about the importance of #singlecell technologies for human genetic diseases. About #MOCA #TOME #STIGMA and other cool tools 🌝 @BeSHGenet #BeSHG2024
A novel neurodevelopmental condition associated with GABRA4 variants. nature.com/articles/s4143…
Development of a novel framework for the evaluation and return of incidental findings from genome sequencing. nature.com/articles/s4143…
Alternate model to opportunistic genomic screening: look for additional findings after diagnostic report given. nature.com/articles/s4143…
Functional assessment of neurodevelopmental disorder associated CACNA1D variants. nature.com/articles/s4143…
Systematic reanalysis of genomic data in undiagnosed patients - ethical and legal issues. nature.com/articles/s4143…
Identifying novel genomic causes of colonic polyps. nature.com/articles/s4143…
Novel missense variants in ACTA2 causing aortopathy nature.com/articles/s4143…
Online now, the March 2024 issue of @ejhg_journal
Wilms tumour associated with paternal TRIM28 variant. nature.com/articles/s4143…
Confirmation of the TCEAL1 neurodevelopmental disorder phenotype. nature.com/articles/s4143…
DAG1 in hyperCKaemia nature.com/articles/s4143…
Gustavson syndrome is due to an in-frame deletion of RBMX. nature.com/articles/s4143…
New methylation signatures associated with KANSL1. nature.com/articles/s4143…
What are the perspectives of the Australian public on who owns genomic data? nature.com/articles/s4143…
A stop variant in DLG3 underlies the cause of the MRX20 family nature.com/articles/s4143…
Trends for United States
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