Christel Depienne @ChristelDepienn
Molecular geneticist | Neurogenetics | repeat expansions | chromosome X | French expat 🇫🇷🇩🇪🇪🇺| Mum of 2 Essen, Allemagne Joined January 2018-
Tweets767
-
Followers961
-
Following843
-
Likes6K
Our own #MorbidGene panel in routine genetic diagnostics at @hug_leipzig. It has a simple logic for inclusion of new genes & its updated monthly... 👇 @RTJauss @berntpopp @CaptainPsycho @RamiJamra morbidgenes.uni-leipzig.de medrxiv.org/content/10.110…
Our own #MorbidGene panel in routine genetic diagnostics at @hug_leipzig. It has a simple logic for inclusion of new genes & its updated monthly... 👇 @RTJauss @berntpopp @CaptainPsycho @RamiJamra morbidgenes.uni-leipzig.de medrxiv.org/content/10.110…
📢New from @durrale & colleagues 📰CAG repeat mosaicism is gene specific in spinocerebellar ataxias cell.com/ajhg/fulltext/…
Enjoyed telling the stories of some great human genetics papers published in the first quarter of this year. The field is moving fast, and many exciting works are getting out every day. I enjoy curating papers that together paint a big picture of the field's progress and…
Enjoyed telling the stories of some great human genetics papers published in the first quarter of this year. The field is moving fast, and many exciting works are getting out every day. I enjoy curating papers that together paint a big picture of the field's progress and…
T2T Nanopore Ultra-Long Workshop presentations now available online. Latest insides on ultra long @nanopore sequencing 🌱 🐿️ and more ucsc-seqtech-events.online/event/
A new Parkinson’s gene has been discovered, RAB32. This gene is possibly involved in the same pathway as LRRK2. Great discovery by Matt Farrer and his team (who initially discovered this gene as a candidate back in 2017). sciencedirect.com/science/articl…
Can we detect the #RNU4-2 recurrent variant in exome / panel data ? In a nutshell : YES ! (with some luck) 🧵1/5 @nickywhiffin @ChristelDepienn
Interested in identifying repeat expansions in your genomes but don't know which technique to use? Our latest open access review on the subject may be of interest to you 👇 sciencedirect.com/science/articl…
Very happy that we genematched with @AnneOtation and @nickywhiffin and to have been able to contribute our #RNU4-2 cases to this amazing study. This example shows why we should stop doing exomes and start analyzing noncoding variants in #RareDiseases.
Very happy that we genematched with @AnneOtation and @nickywhiffin and to have been able to contribute our #RNU4-2 cases to this amazing study. This example shows why we should stop doing exomes and start analyzing noncoding variants in #RareDiseases.
New post: my analysis of PRNP in @gnomad_project v4 cureffi.org/2024/04/03/lea…
We are recruiting #PhD students! Interested in #neurodevelopment #epigenetics? Enthusiastic PhD candidates can apply via the Dresden International Graduate School @digsbb @CRTDpress Deadline: 29 April 2024 digs-bb.de/research/resea…
Bergner et al. describe a novel adult-onset leukodystrophy in individuals carrying different variants of the CST3 gene. Affected individuals suffer from migraine in early adulthood, before later developing slowly progressive cognitive and motor decline. tinyurl.com/59ajtz46
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders medrxiv.org/cgi/content/sh… #medRxiv
Tenure track position opening in Brest, France, in statistical genomics ! Come and join us to work with our team at UMR1078 on the development of multiomics data analysis. univ-brest.fr/umr1078-geneti…
📢We are hiring 2 #Postdocs to lead new research projects: 1 with expertise in #bioinformatics (#transcriptomics or image analysis) 1 with expertise in hiPSCs and #organoids Funded for 3-5 years. More information & instructions for application➡️ shorturl.at/sIQU9
Some of the published long-read sequencing (LRS)-based whole genome datasets: 🟥 1000 genomes (N=64; assembled) generated by the Human Genome Structural Variation Consortium (HGSVC) (science.org/doi/10.1126/sc…) 🟥 deCODE Genetics (N=3362; read mapped to GRCh38)…
Some of the published long-read sequencing (LRS)-based whole genome datasets: 🟥 1000 genomes (N=64; assembled) generated by the Human Genome Structural Variation Consortium (HGSVC) (science.org/doi/10.1126/sc…) 🟥 deCODE Genetics (N=3362; read mapped to GRCh38)… https://t.co/95cmuxnAjR
Here a very detailed review on Epileptic Encephalopathies, a reference for pathological mechanisms and phenotypes: journals.physiology.org/doi/abs/10.115… written with @r_guerrini (as coordinator), @valetw4020, Simona Balestrini, Aristea Galanopoulou and Fabio Benfenati.
Two Group Leader Positions at the IGBMC, Strasbourg - FRANCE job with IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire) nature.com/naturecareers/…
How did we lose our tail? A simple question.. but it wasn't really asked before! We discovered a plausible scenario for the genetic mechanism that led to tail loss. Amazing that such a big change may have been caused by such a small genetic event. nature.com/articles/s4158… @BoXia7
How humans lost their tails — and why the discovery took 2.5 years to publish. 🙏@ewencallaway nature.com/articles/d4158…
Our review article on sequencing & characterising short tandem repeats (STRs) is out in @NatureRevGenet! We delve into short read & long read STR genotyping tools and applications in rare disease & population genetics🧬 go.nature.com/48pWZix @GenTechGp @hdashnow @dgmacarthur
Konrad Platzer @platzer_k
1K Followers 391 Following Institute of Human Genetics @hug_leipzig @UKL_Leipzig • 👨💻 neurodevelopmental disorders (w/ epilepsy) 🧠 • rare diseases • gene discovery • apprentice in 📸
Rikke S. Møller @FiladelfiaGene1
2K Followers 745 Following Professor of Epilepsy Genetics; Head of Department of Epilepsy Genetics and Personalized Medicine at @Filadelfia_dk & SDU. Tweets are my own.
Prof Ingrid Scheffer @ingridscheffer
3K Followers 656 Following Laureate Professor of Paediatric Neurology at @unimelb, @theflorey, @austin_health, @RCHMelbourne. Research epilepsy, classn, genetics, speech & mentorship
Allan Bayat, postdoc .. @AllanBayat
1K Followers 643 Following Pediatrician/translational researcher #epilepsy #genetics #precisionMedicine #raredisorders #neurotwitter #EpilepsyAwarenessMonth @UCPH_BRIDGE @UCPH_research
Dr. Heather Mefford @hcmefford
3K Followers 948 Following Physician, scientist, mom, wife #genetics #epilepsy #pediatrics #raredisease @StJude @StJudeResearch formerly @UWMedicine
Ingo Helbig @IngoHelbig
3K Followers 349 Following Child Neurologist, epilepsy genetics researcher, blogger
Ana Mingorance @CNSdrughunter
3K Followers 1K Following 🧠 🧬 Neuroscientist. Looking for new medicines for CDKL5, SCN1A, SHANK3, DHPS and a few others.
Stéphane Auvin @stephane_auvin
2K Followers 864 Following Child Neurologist & Epileptologist. Professor at @univ_paris_cite. Dept Chair at @HopRobertDebre. Senior member 2021 @InstUnivFr. Deputy Editor @EpilepsiaJourn
Solve-RD @Solve_RD
2K Followers 402 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.
Stéphanie Baulac @BaulacS
721 Followers 317 Following Paris Brain Institute (ICM) | Brain mosaicism & Epilepsy | @ParisBrainInst
Katja Kobow @KatjaKobow
1K Followers 1K Following Epigenetics enthusiast. Working in molecular neuropathology 🧠🔬🧬 @UniFAU. @UKL guest researcher. Cortical malformations and epilepsy. More than a scientist.
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
Peter Krawitz @KrawitzPeter
560 Followers 595 Following For precision medicine human and artificial intelligence need to join efforts.
AGE Program - Adult G.. @DrDaniAndrade
2K Followers 713 Following Professor of Neurology @UofT. Director, #AdultGeneticEpilepsy Program @UHN. Chair of @IlaeWeb #TransitionTaskForce #EpilepsyGenetics #neurotwitter
James Fasham @JamesFasham
3K Followers 3K Following 🧬👨⚕️Genetics doctor & PhD 💻 💬 Social media: @ESHGsociety @JMG_BMJ and @BritSocGenMed. 🤖 @DiseaseGenes bot creator (#Genetics #Genomics #RareDisease)
Gemma Carvill, PhD @CarvillLab
1K Followers 646 Following rare disease geneticist | epilepsy | epigenetics | iPSCs | mentor & genetics MedEd | immigrant | tweets about science, lab fun & occasionally our tiny hooman
Laurent Nguyen @neuroliege
3K Followers 1K Following Scientific director and PI at GIGA Institute, University of Liège 🇧🇪 - personal views
Katrine M Johannesen @Katrine92658231
348 Followers 280 Following MD and PostDoc. training to be a clinical geneticist. Mother of three humans and most comfortable in rubberboots. Words and opinions are my own.
Ángel Aledo-Serrano @AledoNeuro
7K Followers 1K Following Neurologist🧠 Epileptologist, director of @Vithas @SynaptiaMadrid Institute & Epilepsy Center - Neurogenetics🧬 @SENeurologia - #FND - [email protected]
Aadil Yousuf @AadilYo35690520
5 Followers 35 Following
Marta @croniquesdemart
57 Followers 638 Following
Mohamed Wafik @mo__wafik
35 Followers 526 Following 🧬 Clinical Geneticist in London | Paediatric focus | Innovating patient care through genomics | Views are my own 🇬🇧 🇪🇬🔬
Barbarii Teodora @TeodoraBarbarii
28 Followers 112 Following Medical Genetics resident in training. Interested in studying neurodevelopmental disorders and rare neurogenetics diseases #NDDs, #neurogenetics, #rarediseases
Sarah Kingan @drsarahdoom
1K Followers 1K Following Bioinformatics scientist turned product manager @pacbio, mother of two, retired roller derby skater/coach/announcer, views are my own, she/her
Polona @PolonaLeQS
114 Followers 647 Following genomics, variant analysis, rare diseases, inherited cardiac diseases
Ali Kheirandish @AliKheirandish4
155 Followers 4K Following
Gene & Protein in Dis.. @GPD_ASP
273 Followers 2K Following Gene & Protein in Disease (GPD) ( ISSN: 2811-003X) is an international journal for #molecular and #translational #medicine.
hjulienne @hanna_julienne
504 Followers 807 Following I'm a research engineer @GGSPasteur trying to decipher the #genetic component of complex diseases #GWAS. co-organizer of the @DEIPasteur #WomenInScience
Geneyx @GeneyxGenomex
188 Followers 505 Following A comprehensive genomic analysis solution for whole genome, exome and gene panels. Suited for Long-Read. In collaboration with Oxford #Nanopore and #PacBio
Eric Kernfeld @ekernf01
540 Followers 1K Following Statistician and computational biologist; uw alum; jhu student in @cahanlab, @alexisjbattle lab. He/him. https://t.co/jaMuFiHR9y
Simão Teixeira da Ro.. @SimoTeixeirada3
610 Followers 996 Following Assistant Professor at @DBioengineering & Group Leader of the "Stem Cell Epigenetics" Lab at @iBBTecnico, @istecnico.
Paul Gardner @ppgardne
4K Followers 3K Following Bioinformatician. ex-Whāngārā. New Zealand/Aotearoa. A/Prof. Overly fond of RNA. Kayaking. Fishing.
Hayley Lees @DrHayleyLees
400 Followers 460 Following Clinical Scientist in Genetics 🧬 @ExeterGenomes 🧬 @exeter_lab 🧬 @RoyalDevonNHS 🧬 Eternal lover of C. elegans 🪱 All views my own.
Tania ATTIE-BITACH @AttieTania
5 Followers 29 Following
Juliet French @JulietFrench01
376 Followers 326 Following Functional geneticist, interested in how noncoding variants influence enhancers, chromatin looping, noncoding RNAs, gene regulation 🦘🇦🇺
Mahdi Muhaddesi @MahdiMuhaddesi
217 Followers 604 Following 💊🔬Co-Founder at @RaycaBio | Precision Medicine | #HealthTech Startup Founder | Next Generation Sequencing (NGS) | #PrecisionOncology | https://t.co/Gy9fxBfvt0
Franziska Reschke @franziska_ler
53 Followers 58 Following clinical geneticist focussed on #prenatal medicine and #rarediseases, networking team @juhumgen
Eric Olinger @ericolinger1
194 Followers 414 Following MD, PhD. Interested in all things genetics and genomics
Jussi T. @Jussi02841019
157 Followers 426 Following Clinical Researcher @SuomenAkatemia @UniOulu | Child Neurology | Genetics, Ataxias | Brain Organoids | Alumnus: @MSCActions @KavliOxford @NDCNOxford
Soham Sengupta @sohamsg90
108 Followers 230 Following
Eric Dawson @erictdawson
987 Followers 1K Following Senior Scientist - Genomics, HPC and AI @nvidia . Formerly National Cancer Institute and University of Cambridge. All views are my own. (he/him)
Zhongbo Chen @ZhongboC
227 Followers 388 Following Neurology doctor & Crick postdoctoral clinical training fellow
Alex Blakes @DrABlakes
298 Followers 274 Following Academic Paediatrics trainee and Wellcome Clinical Research Training Fellow in Manchester. Developmental disorders, genomics, and bioinformatics.
Ruby Dawes @RuebenaEDawes
320 Followers 1K Following Sydney girl, @AustAmFulbright recipient 2020-2021 with @theFourier2k. PhD @kids_research 2022, now postdoc with @nickywhiffin at @bdi_oxford. Splicing & smORFs!
Jenny Lord @DrJennyLord
100 Followers 150 Following Lecturer in Systems Biology at the University of Sheffield interested in RNA, splicing, big data, rare disease diagnostics and neuroscience
Sarah Louise Stenton @SL_Stenton
134 Followers 272 Following Deciphering the genetic cause of rare diseases | Postdoctoral Research Fellow @ BCH and Broad Institute of MIT and Harvard
Segun Fatumo @SFatumo
4K Followers 940 Following Associate Professor, NCDE, LSHTM, United Kingdom. Associate Professor, MRC/UVRI and LSHTM Uganda. Genomics | GWAS | Africa | Capacity Building | Global Health
ShorterLab @ShorterLab
11K Followers 6K Following Countering deleterious phase transitions in ALS/FTD, PD, AD, and related disorders @Penn @PennMedicine @bb_upenn @BMBGGUPENN @PGGUPenn @PennNGG @CAMBUpenn
Supratim Paul @supratimpaul09
226 Followers 3K Following Cricket lover, enthusiastic, technology lover, passionate, likes travelling all over India.
Nicky Whiffin @nickywhiffin
4K Followers 759 Following Associate Prof & Henry Dale Fellow @bdi_oxford @HumanGeneticsOx | Computational Rare Disease Genomics | Non-coding | @StAnnesCollege | @nickywhiffin.bsky.social
Tauquir Faiyyaz @Tauquirbiomedsc
20 Followers 138 Following
Steve Laurie @SteveLaurie42
780 Followers 958 Following Celt in BCN. Genetic sleuth at @cnag_eu with focus on rare diseases - @ConnectRD, @Solve_RD, @EJPRareDiseases. All views expressed are my own.
Christos Proukakis @proukakis
2K Followers 2K Following Tweets strictly personal. Mostly neurogenetics when not distracted by wars...
Douglas Dluzen @ripplesintime24
606 Followers 896 Following Director @JHUPhDCareers. Geneticist. STEM diversity advocate. Fiction in @Analog_SF & non-fic in @Clarkesworld & elsewhere. He/him. Views are my own.
Kathleen Claes @KathleenClaes73
126 Followers 427 Following Familial cancer │Cancer predisposition │Zebrafish │Precision oncology │Human molecular diagnostics
Gia 😏 @GiaLacey455
8 Followers 565 Following Аdventurоus spirit sеeking a partnеr for steаmy еncоuntеrs
Megan Dennis @meganydennis
2K Followers 2K Following Assoc Prof @ UCDavis. Interests: family, human neurogenetics, duplicated genes, zebrafish. Tweets my own. #firstgen bluesky: mydennis
Víctor Sánchez Gaya @SanchezGaya
163 Followers 551 Following Bioinformatics & Biostatistics / Postdoc at @RadaIglesiasLab / Developing POSTRE https://t.co/JBa5OQMs2N to facilitate SV interpretation
Bryant McGill @BryantMcGill
38K Followers 42K Following Thought Leader 🇻🇦 Adopted Offspring of Howard Hughes 🧬 Technologist ✮ WSJ & USAToday BestSelling Author ✮ 10 Million Followers ✮ UN Appointed Global Champion
Carlos A. Pinzón Art.. @carlosapinzona
514 Followers 986 Following DVM, MSc, Ph.D. Postdoctoral Fellow at @Moazed_Lab HHMI / Harvard Medical School . From Bogotá, Colombia.🇨🇴 @Harvard @HarvardMed
Stefan Leye @StefanLeye
86 Followers 435 Following Software Engineer and Co-Founder Limbus of Medical Technologies. Opinions are my own.
CASK Research UK @CASKResearch
165 Followers 353 Following We are a charitable foundation promoting research into CASK gene mutations and associated neurological conditions in hope of finding therapies and treatments
Konrad Platzer @platzer_k
1K Followers 391 Following Institute of Human Genetics @hug_leipzig @UKL_Leipzig • 👨💻 neurodevelopmental disorders (w/ epilepsy) 🧠 • rare diseases • gene discovery • apprentice in 📸
Oded Rechavi @OdedRechavi
139K Followers 1K Following Don't be fooled by the rocks that I got, I'm still Oded from the block. TED: https://t.co/rcOm9TSTf5 Huberman Lab Podcast: https://t.co/xZTNlx9nbi
Rikke S. Møller @FiladelfiaGene1
2K Followers 745 Following Professor of Epilepsy Genetics; Head of Department of Epilepsy Genetics and Personalized Medicine at @Filadelfia_dk & SDU. Tweets are my own.
Prof Ingrid Scheffer @ingridscheffer
3K Followers 656 Following Laureate Professor of Paediatric Neurology at @unimelb, @theflorey, @austin_health, @RCHMelbourne. Research epilepsy, classn, genetics, speech & mentorship
Allan Bayat, postdoc .. @AllanBayat
1K Followers 643 Following Pediatrician/translational researcher #epilepsy #genetics #precisionMedicine #raredisorders #neurotwitter #EpilepsyAwarenessMonth @UCPH_BRIDGE @UCPH_research
Dr. Heather Mefford @hcmefford
3K Followers 948 Following Physician, scientist, mom, wife #genetics #epilepsy #pediatrics #raredisease @StJude @StJudeResearch formerly @UWMedicine
Ingo Helbig @IngoHelbig
3K Followers 349 Following Child Neurologist, epilepsy genetics researcher, blogger
Ana Mingorance @CNSdrughunter
3K Followers 1K Following 🧠 🧬 Neuroscientist. Looking for new medicines for CDKL5, SCN1A, SHANK3, DHPS and a few others.
Stéphane Auvin @stephane_auvin
2K Followers 864 Following Child Neurologist & Epileptologist. Professor at @univ_paris_cite. Dept Chair at @HopRobertDebre. Senior member 2021 @InstUnivFr. Deputy Editor @EpilepsiaJourn
Aaron Quinlan @aaronquinlan
17K Followers 1K Following Genome mutation, software for genomic discovery. https://t.co/6GKjALLFfk Co-director, DELPHI Data Science Init.: https://t.co/8uWRcIzWRr
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
Solve-RD @Solve_RD
2K Followers 402 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.
Brain @Brain1878
65K Followers 172 Following Brain: A Journal of Neurology. Publishing leading studies in neurological science since 1878.
Stéphanie Baulac @BaulacS
721 Followers 317 Following Paris Brain Institute (ICM) | Brain mosaicism & Epilepsy | @ParisBrainInst
Katja Kobow @KatjaKobow
1K Followers 1K Following Epigenetics enthusiast. Working in molecular neuropathology 🧠🔬🧬 @UniFAU. @UKL guest researcher. Cortical malformations and epilepsy. More than a scientist.
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
Peter Krawitz @KrawitzPeter
560 Followers 595 Following For precision medicine human and artificial intelligence need to join efforts.
AGE Program - Adult G.. @DrDaniAndrade
2K Followers 713 Following Professor of Neurology @UofT. Director, #AdultGeneticEpilepsy Program @UHN. Chair of @IlaeWeb #TransitionTaskForce #EpilepsyGenetics #neurotwitter
Barbarii Teodora @TeodoraBarbarii
28 Followers 112 Following Medical Genetics resident in training. Interested in studying neurodevelopmental disorders and rare neurogenetics diseases #NDDs, #neurogenetics, #rarediseases
Sarah Kingan @drsarahdoom
1K Followers 1K Following Bioinformatics scientist turned product manager @pacbio, mother of two, retired roller derby skater/coach/announcer, views are my own, she/her
Polona @PolonaLeQS
114 Followers 647 Following genomics, variant analysis, rare diseases, inherited cardiac diseases
R2D2-MH project @R2d2Mh
187 Followers 302 Following #horizoneurope funded project on risk and #resilience factors in #developmentaldiversity and #mentalhealth, as #ADHD, #autism and #ID. Tweets project's own.
Ronny Derks @RonnyDerks
5 Followers 29 Following
Janneke Weiss @JannekeWeiss
90 Followers 110 Following Director Radboud Genome Technology Center and Clinical laboratory geneticist, RadboudUMC Nijmegen
Gene & Protein in Dis.. @GPD_ASP
273 Followers 2K Following Gene & Protein in Disease (GPD) ( ISSN: 2811-003X) is an international journal for #molecular and #translational #medicine.
GencodeGenes @GencodeGenes
1K Followers 289 Following Human And Vertebrate Analysis aNd Annotation (HAVANA) team, part of the Ensembl group at the European Bioinformatics Institute.
hjulienne @hanna_julienne
504 Followers 807 Following I'm a research engineer @GGSPasteur trying to decipher the #genetic component of complex diseases #GWAS. co-organizer of the @DEIPasteur #WomenInScience
Geneyx @GeneyxGenomex
188 Followers 505 Following A comprehensive genomic analysis solution for whole genome, exome and gene panels. Suited for Long-Read. In collaboration with Oxford #Nanopore and #PacBio
Alexandra Durr @durrale
59 Followers 24 Following Clinical Researcher at the Paris Brain Institute in Paris, France
Elica Le Bon الیک.. @elicalebon
87K Followers 307 Following Daughter of Iran // Attorney, activist, artist, and other such labels that belie the illimitable dimensions of human existence
Shahryar Alavi @Schahrjar
58 Followers 79 Following Human Genomics 🇮🇷 🇬🇧 Bioinformatician at @UCLIoN and a structural biology enthusiast
Eric Kernfeld @ekernf01
540 Followers 1K Following Statistician and computational biologist; uw alum; jhu student in @cahanlab, @alexisjbattle lab. He/him. https://t.co/jaMuFiHR9y
Simão Teixeira da Ro.. @SimoTeixeirada3
610 Followers 996 Following Assistant Professor at @DBioengineering & Group Leader of the "Stem Cell Epigenetics" Lab at @iBBTecnico, @istecnico.
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
Paul Gardner @ppgardne
4K Followers 3K Following Bioinformatician. ex-Whāngārā. New Zealand/Aotearoa. A/Prof. Overly fond of RNA. Kayaking. Fishing.
Tania ATTIE-BITACH @AttieTania
5 Followers 29 Following
Helen Chen, PhD @helenc327
360 Followers 626 Following iPSC scientist & organoid engineer for rare neurodevelopmental disease, working on disease modelling & precision medicine @StJudeResearch, @ubc alumnus🇨🇦
Mahdi Muhaddesi @MahdiMuhaddesi
217 Followers 604 Following 💊🔬Co-Founder at @RaycaBio | Precision Medicine | #HealthTech Startup Founder | Next Generation Sequencing (NGS) | #PrecisionOncology | https://t.co/Gy9fxBfvt0
Juliet French @JulietFrench01
376 Followers 326 Following Functional geneticist, interested in how noncoding variants influence enhancers, chromatin looping, noncoding RNAs, gene regulation 🦘🇦🇺
Franziska Reschke @franziska_ler
53 Followers 58 Following clinical geneticist focussed on #prenatal medicine and #rarediseases, networking team @juhumgen
Hayley Lees @DrHayleyLees
400 Followers 460 Following Clinical Scientist in Genetics 🧬 @ExeterGenomes 🧬 @exeter_lab 🧬 @RoyalDevonNHS 🧬 Eternal lover of C. elegans 🪱 All views my own.
Daniel Rissi @danielrissi
389 Followers 2K Following Bioinformatics, Microbial Ecology, Evolutionary biology, Phylogenetics, Comparative Genomics, Data Science
Eric Olinger @ericolinger1
194 Followers 414 Following MD, PhD. Interested in all things genetics and genomics
Cas Simons @SimonsCas
87 Followers 47 Following Rare Disease Analysis Team Lead, Centre for Population Genomics at @MCRI_for_kids and @GarvanInstitute.
Soham Sengupta @sohamsg90
108 Followers 230 Following
Zhongbo Chen @ZhongboC
227 Followers 388 Following Neurology doctor & Crick postdoctoral clinical training fellow
Yuyang Chen @quenchentin
114 Followers 49 Following PhD student - Computational Rare Disease Genomics group with @nickywhiffin, Big Data Institute, University of Oxford (https://t.co/bfBM3lqX75)
David R. Thorburn @thorburn_mito
252 Followers 18 Following Mitochondrial disease research, diagnosis, prevention, treatment, advocacy. Hiking, gardening, grandparenting, opinions my own @MCRI_for_kids @TeamVCGS @AusMito
Diana Baralle @ProfDBaralle
850 Followers 290 Following Research Professor Genomic Medicine and Consultant in Clinical Genetics. Associate Dean Research
cedric boeckx @cedricboeckx
3K Followers 340 Following Working on the neurobiological bases of language from an evolutionary perspective @cbl_bcn; ICREA Research Professor, ICREA/Universitat de Barcelona.
Jussi T. @Jussi02841019
157 Followers 426 Following Clinical Researcher @SuomenAkatemia @UniOulu | Child Neurology | Genetics, Ataxias | Brain Organoids | Alumnus: @MSCActions @KavliOxford @NDCNOxford
Dr Ali Kay 🧬📚�.. @AliMakesHay
2K Followers 2K Following People, genetics/genomics & personalised medicine. Researcher @RDMOxford Research Fellow @CPMoxford @StAnnesCollege Volunteer Muscular Dystrophy UK. Tweets own
Eric Dawson @erictdawson
987 Followers 1K Following Senior Scientist - Genomics, HPC and AI @nvidia . Formerly National Cancer Institute and University of Cambridge. All views are my own. (he/him)
Mayank Verma @Mayank_Verma_
640 Followers 719 Following Child Neurology Resident @ UTSW, MD/PhD. Interested in rare disease, gene therapy, skeletal muscle, myoclonic epilepsies, imaging, biomarkers.
antoni.riera @antoni_riera
188 Followers 684 Following Postdoctoral researcher at OHSU. #Genomics #infertility
Hugues Abriel @SwissI.. @SwissIonChannel
2K Followers 299 Following Scientist - Vice-Rector (VP) Research and Innovation @unibern @uniofbern - #BetterScience #SciComm #ScienceInAfrica #IonChannels #Channelopathies
Hannah Long @Hannah_K_Long
1K Followers 986 Following Group Leader @mrc_hgu investigating gene regulation in development & human disease
Ruby Dawes @RuebenaEDawes
320 Followers 1K Following Sydney girl, @AustAmFulbright recipient 2020-2021 with @theFourier2k. PhD @kids_research 2022, now postdoc with @nickywhiffin at @bdi_oxford. Splicing & smORFs!
Sarah Louise Stenton @SL_Stenton
134 Followers 272 Following Deciphering the genetic cause of rare diseases | Postdoctoral Research Fellow @ BCH and Broad Institute of MIT and Harvard
Alex Blakes @DrABlakes
298 Followers 274 Following Academic Paediatrics trainee and Wellcome Clinical Research Training Fellow in Manchester. Developmental disorders, genomics, and bioinformatics.
Anshul Kundaje (anshu.. @anshulkundaje
22K Followers 2K Following Genomics, Machine Learning, Statistics, Big Data and Football (Soccer, GGMU). Post: @anshulkundaje, Threads: anshulkundaje
Jonathan Pritchard @jkpritch
15K Followers 358 Following My lab at Stanford studies human population genetics and complex traits.
Andrea ganna @andganna
3K Followers 607 Following Associate Prof in health data science @HiLIFE_helsinki @FIMM_UH - MGH/Harvard - Playing with all kind of data - https://t.co/BffgAbQTls
Jenny Lord @DrJennyLord
100 Followers 150 Following Lecturer in Systems Biology at the University of Sheffield interested in RNA, splicing, big data, rare disease diagnostics and neuroscienceGreat paper on the somatic CAG repeat expansions in blood and brain tissue of different ataxia subtypes. Not all ataxia subtypes show repeat expansions, suggesting the expansion is not repeat sequence-specific but gene-specific (ATXN7 in SCA7, HTT in Huntington's). Likewise, not…
Required reading for anyone working in (gen)omics
NEW TODAY in @Nature - A vast DNA tree of life brings open access DNA sequences of >9500 flowering plants! 🧬 This invaluable resource crafted by 279 scientists lets us answer key questions about modern plant life and look back in time to its origins 🌿 nature.com/articles/s4158…
All tools are openly available: github.com/bionanogenomic… github.com/bionanogenomic…
Enigmatic missense mutations can cause disease via creation of de novo nuclear export signals biorxiv.org/cgi/content/sh… #bioRxiv
🧠Janelia scientists have reached another milestone in connectomics: A wiring diagram of the fruit fly visual system. With 50K+ neurons, the optic lobe connectome provides the fullest picture yet of one of the most important parts of the nervous system. janelia.org/news/seeing-is…
@francois_leco @platzer_k @Solve_RD @ChristelDepienn We likely have a further 3 cases in @Solve_RD with the recurrent variant in ES data within @ConnectRD #GPAP (5 total, 1 WGS), plus 2 more candidate SNVs in the 18nt region. We found a further 11 SNVs at 5 loci in 22k samples that are also in unaffected so presumably benign.
@platzer_k @SteveLaurie42 @Solve_RD @ChristelDepienn Wow so three likely new diagnosis using offtarget reads, is that correct ? This is awesome, congrats 👌👌👌
So in summary, @SteveLaurie42 & @Solve_RD not only helped us to make 1 new #RNU4-2 diagnosis, but motivated us to likely identify 2 more... 👌 🙏 I mean, when do we have the chance for re-analysis of only 18 bp & get these results? Likely not again... @ChristelDepienn 🙋♂️ 😉 /5
We likely made a new #RNU4-2 diagnosis at @hug_leipzig due to the help of @SteveLaurie42 & the awesome @Solve_RD infrastructure. 🙂 This case was not included in our own re-analysis of old data using @francois_leco example last week... 🥲 But wait... there is more... /1
Can we detect the #RNU4-2 recurrent variant in exome / panel data ? In a nutshell : YES ! (with some luck) 🧵1/5 @nickywhiffin @ChristelDepienn
🧬New rare disease solved ! Happy to share our latest work on the developmental disorder associated to a recurrent missense variant in FEM1B (1/5) sciencedirect.com/science/articl…
Always an absolute pleasure and privilege to plan / attend ‘Genetics of NDV’ meeting in quaint Troina, Sicily! SUPERB science, people, food, wine, hospitality. This meeting is a true gem, as is Sicily. #raredisease #Genetics
Many thanks to @hcmefford for inviting me to speak at the fantastic Genetics of Neurodevelopment meeting in beautiful Sicily!!
Always an absolute pleasure and privilege to plan / attend ‘Genetics of NDV’ meeting in quaint Troina, Sicily! SUPERB science, people, food, wine, hospitality. This meeting is a true gem, as is Sicily. #raredisease #Genetics
Long-read sequencing and structural variant characterization in 1,019 samples from the 1000 Genomes Project doi.org/10.1101/2024.0… Comparison of read mapping and variant calling tools for the analysis of plant NGS data doi.org/10.1101/2020.0…
L'Europe de nuit depuis la station spatiale internationale, par @Thom_astro . Admirez les orages et en vert la lumière du ciel nocturne, qui révèle notre fine atmosphère
gnomAD 4.1 is now live! This release fixes the AN issue in #gnomAD v4.0 & adds 2 new functionalities: 1) Joint AN across all called sites in exomes and genomes 2) A flag indicating when exomes and genomes frequencies are highly discordant Learn more at broad.io/gnomad_v4-1
"Vous devriez juste avoir honte ! C'est nous, les femmes, qui choisissons ce que nous voulons dans notre vie, que ce soit être mère ou ne pas l'être."
A funny thing happened on the way to routine single nucleus ATAC-seq analysis…and after scratching at it for longer than we wanted, we wrote a paper about what we found. This is a 🧵 about our little paper...(sorry long) biorxiv.org/content/10.110… 1/
Dreaming of a career in neuroscience 🧠? Neuroscience Academy Denmark 🇩🇰 (NAD) offers 16 fully funded PhD fellowships to exceptional and highly motivated candidates pursuing a career in neuroscience research ‼️ 📅Call deadline: August 12, 2024 👇 neuroscienceacademydenmark.dk/call/16-nad-ph…
Exciting meeting ongoing in the south of Italy, thanks for the invitation to #Troina @hcmefford and other organisers not on Twitter! #neuroscience #genetics #raredisease
Trends for United States
You might like
