Gertjan van Ommen @gjvo11
Lifelong commitment to rare diseases, technology and therapy development (exon skipping), biobanking. Tweets on this, my dogs & all things funny / crazy. bbmri.nl Amsterdam-NL Joined September 2014-
Tweets1K
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Followers291
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Following44
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Likes835
Progress: Both with our reading glasses on the tip of our nose trying to find out, on internet, the name of the illegible wrist devices, our handheld devices declared themselves empty. Progress
Why journals should insist on the raw data x.com/theoshantonas/…
I hope the Nobel committee awards Dr. Fauci a Nobel Prize. It will save thousands of lives when those who are following Levitt just because he has a Nobel Prize switch to listening to Fauci. They will switch because Levitt only has 1/3 of a prize and Fauci will have a whole.
Surprise for Sammy
Calming timelapse of the day.
Talk about resolution!!
We proudly announce our new discovery based on an international effort: GBF1 pathogenic de novo and inherited variants cause a novel motor neuropathy. cell.com/ajhg/fulltext/…; @UKKoeln @CMTNeuropathy @AJHGNews; @mndassoc;@CureSMA;@SMAEurope
you actually catch more flies with vinegar than honey #JustSayin
Low-dose corticosteroids: An inexpensive, widely available treatment proven to reduce mortality in patients with severe COVID-19 (those who require oxygen +/- mechanical ventilation) ft.com/content/b77f87…
We need this level of testing back home 🇳🇱
We need this level of testing back home 🇳🇱
Our most recent overview on SMA is now available: annualreviews.org/eprint/PPZF82H… @SMAEurope; @CureSMA; @SMA_UK_ @SMANewsToday ; @StopSMA; @SMAresearch; @UKKoeln
📹 Join the livestream 'Duchenne and the Brain' Sept 7! Researchers, clinicians and families share their experience on #Duchenne and #Becker in relation to the brain. Please share. We can all learn something from this important aspect in DMD and BMD. 🙏 worldduchenneday.org/wdad2020-onlin…
“Would you like me to walk you through my poster?” x.com/buitengebieden…
Een wake-up call. Universiteit wilde verplichte aanbesteding negeren: 'er is toch maar één partij die dit kan leveren'. fd.nl/ondernemen/135… #FD #ICT-diensten
Bon courage Jeannette!
Mainstream testing for #BRCA variants makes little difference to detection rate in affected individuals, but is associated with reduced uptake of cascade testing by relatives. go.nature.com/2DCuxBn
Switching from enzyme replacement therapy to oral migalastat is safe and effective in #FabryDisease. go.nature.com/3j6amvV
Variants in the 5’UTR of #SHOX can interfere with gene expression and cause haploinsufficiency. go.nature.com/3eAlJJm
A best practice guideline for genetic testing of 21-hydroxylase deficiency go.nature.com/3fFJcd6
Cecilia Lindgren @ceclindgren
8K Followers 1K Following Director of Oxford Big Data Institute. Proud mom of 3. Co-chair of @icdabio. Wellcome Trust Investigator. Promoting equality in academia. Love 🦈. #🕷🕸💙
Cisca Wijmenga @wijmenga_cisca
4K Followers 1K Following former Rector Magnificus @univGroningen | Lodewijk Sandkuijl Dist Univ Prof Human Genetics l KNAW | ERC Adv grantee | Spinoza prize winner | EMBO member
A.Zhernakova @SashaZhernakova
926 Followers 315 Following Professor of the Human Genome and Exposome at University Medical Center Groningen (UMCG)
Richarda de Voer @RMdeVoer
466 Followers 546 Following Scientist | Cancer genomics | Human Genetics | Radboudumc | Breda | Dutch
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.
Nine Knoers @knoers
1K Followers 591 Following professor clinical/ medical genetics. Chair Department Genetics, UMC Groningen . former Chair Dutch Society of Clinical Genetics
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
AnnemiekeAartsma-Rus @oligogirl
3K Followers 486 Following Translating science from bench to bedside and from jargon to lay language
World Duchenne Organi.. @worldduchenne
3K Followers 1K Following Global organization to find a cure and viable treatment for those lives affected by dystrophinopathies: Duchenne and Becker Muscular Dystrophy. RT ≠ endorsement
Orphanet @Orphanet
6K Followers 625 Following The reference portal and knowledge base for information on rare diseases and orphan drugs. Orphanet nomenclature, ORPHA codes, Orphanet RD Ontology @inserm
Sir John Burn @CaPP3
5K Followers 1K Following Prof of Clinical Genetics Newcastle Uni. CI Capp3 – aspirin cancer prevent'n trial. Chair QuantuMDx Ltd Chair Newcastle Hospitals FT. tweets my own. He/him
Lochmüller Lab @LochmullerLab
799 Followers 345 Following Hanns Lochmüller's research lab in Ottawa, Canada. Clinical and basic research in neuromuscular and rare disease. Tweets by Hanns and team.
Zoltán Kutalik @zkutalik
2K Followers 630 Following Statistical Geneticist, Group leader at University of Lausanne/Unisante, father, climber, runner
Erasmus MC Genetica @Erasmusgenetica
599 Followers 353 Following Officieel account van de afdeling Klinische Genetica van het Erasmus MC Rotterdam. Erfelijkheidsadvies, genoom/DNA-diagnostiek, research/onderwijs.
NicolineHoogerbrugge @NicolineHoogerb
1K Followers 486 Following Professor Erfelijke Kanker, Radboudumc, Passie voor preventie van kanker, coordinator Europees Referentie Netwerk Genetische Tumor Risico Syndromen ERN GENTURIS
Serena Sanna @serenasanna1
416 Followers 273 Following mathematician curious about human genetics, the role of microbiome in diseases, and all the interaction with other biological functions of our body
elizabeth vroom @elizabethvroom
768 Followers 158 Following @worldduchenne 🌍 @duchennepp 🇳🇱 @duchenneday 🎈
Virginia Arechavala @VArechavala
2K Followers 2K Following Scientist and mum. @ikerbasque Professor @biocrucesHR Interested in #RNAtherapy for #neuromuscular disorders. De Bilbao de toda la vida and adopted Londoner.
Health-RI @Health__RI
711 Followers 305 Following Dutch national initiative to facilitate and stimulate an integrated health data infrastructure accessible for researchers, citizens, care providers and industry
German Biobank Node @bbmri_de
1K Followers 717 Following German Biobank Network to facilitate data and knowledge exchange, standardisation and development of standards between biobanks. German partner of BBMRI-ERIC.
Achiever_LIMS @AchieverLIMS
131 Followers 457 Following Designed in collaboration leading clinical research institutions across Europe, Achiever LIMS is a trusted #biobanking, tracking & auditing solution.
Phenomics @Phenomics_J
1K Followers 2K Following Phenomics journal is focusing on cutting-edge scientific advances in the field of #Phenomics, indexed by #PMC #ESCI|@SpringerNature @FudanUni
Cripples Unite @UniteCrips
14 Followers 397 Following
Alexandra Gylfe @elisalexndra2
21 Followers 111 Following Founding Partner at @nordic_science. X scientist @helsinkiuni @stanford. Proud mother of two girls. Uni spinout in Nordics/Baltics looking for funding? Ping me.
Rare Diseases @RareDiseases23
54 Followers 466 Following We welcome you to "6th International Conference on Rare Diseases" which is going to be scheduled on February 20-21, 2023 Amsterdam, Netherlands.
LMNA cardiac @LmnaCardiac
1K Followers 5K Following LMNA cardiac - LMNA Related Cardiac Diseases Information and Network
Kalina Cetnar @kalina_cetnar
17 Followers 362 Following
NCL_RareDisease @NCL_RareDisease
601 Followers 912 Following @UniofNewcastle Centre of Excellence for Rare Disease works with @NewcastleHosps @NHIPartners & more, to constitute a 'Newcastle RD' community(Tweets V.Hedley)
@ODExpertGroup @odexpertgroup
672 Followers 4K Following Established in 2020, the European Expert Group on Orphan Drug Incentives brings together representatives of the broad rare diseases community.
Dr Maaz @DrMaaz16
748 Followers 4K Following Genome selectionl Quantitative genetics l GWASlGenomicsl High-density genotyping datal(MPhil Animal breeding and genetics) UVAS Lahore.
CUBiobank @CUBiobank
848 Followers 927 Following Cardiff University Biobank provides high quality biological samples for scientific research.
Sarah Cox @SarahNicoleCox
37 Followers 164 Following
Biobanking.com @biobankingcom
1K Followers 3K Following Biobanking industry web portal, the leading media platform for news and information related to #biobanking, #biorepository and #biospecimen science.
Hélène Le Borgne @HeleneLBorgne
1K Followers 5K Following European, bretonne. Public health & research at EU level, rare diseases, transplantation. Youth & Sports (RTs/follows ≠ endorsements, own views).
Karien de Rooij @KariendeRooij
29 Followers 68 Following
chris de die @chrisdedie1
19 Followers 30 Following Professor in Clinical Genetics in particular Preimplantation Genetic Testing in Maastricht.
Mohammad S Fallah @fallahmp
165 Followers 503 Following Physician, Human Geneticist, MD, PhD, with interest on the NGS based diagnostics. Passionate to Improve Health for All. Tweeting mainly about Genetics.
Trends in Molecular M.. @TrendsMolecMed
6K Followers 3K Following Reviews journal by Cell Press publishing all aspects of human diseases, diagnostics, therapeutics, and disease prevention. Tweets by editor Dr. Aliki Perdikari.
J.Peter van Tintelen @jpvantintelen
1K Followers 1K Following clinical geneticist, department Genetics. professor of clinical genetics; klinisch geneticus, hoogleraar klinische genetica @umcugenetica
VKGN @erfelijk_artsen
1K Followers 579 Following VKGN: Vereniging Klinische Genetica Nederland Dutch Clinical Genetics Society Wetenschappelijke vereniging voor professionals in het vakgebied van erfelijkheid
Brage Storstein Andre.. @AndresenBrage
254 Followers 479 Following Professor of Human Molecular Genetics at SDU, Head of Section for Translational Biology. Interested in RNA biology, Splicing regulation and ASO therapy.
Fabiano Poswar, MD, P.. @errosinatos
113 Followers 327 Following Attending physician in inborn errors of metabolism at @HCPA_. Section editor at @ejhg_journal and editorial board of @BMC_series. Views are my own.
Cell Genomics @CellGenomics
8K Followers 926 Following Cell Genomics is a new gold #OpenAccess and #OpenScience research journal that represents the forefront of #genetics and #genomics 🧬
GeneticsExplained @GeneticsExplain
224 Followers 356 Following Everything genetics. Making genetics understandable for scientists, journalists and anyone interested in genetics. Tweeting facts and newsworthy items
What’s In My Fridge.. @smartfridgecam
37 Followers 341 Following Just pictures of my fridge and suggested recipes based on the “smart” camera inside
Minna Pöyhönen @PoyhonenMinna
8 Followers 34 Following
Amy Houseman @amyhouseman__
403 Followers 930 Following Bioinformatician📍Cardiff Uni Cancer Genetics PhD👩🏼🎓 BSc Genetics Edge Hill Uni 🧬Big Data Biology Lab @ Fudan University 👩🏼💻 Funded by @cancer_wales
Chromosome 6 Project�.. @c6study
857 Followers 1K Following Parent-driven research on individuals with #Chromosome6 disorders (deletion and duplication) #ProfessorConny @UMCG #Awareness #worldwide 🌏 #crowdfunding
Roland Ewald @rlndwld
232 Followers 795 Following Co-founder @limbusmedtec, working on clinical #genomics platform #varvis. (Views my own.)
Mel Hill @MelHill02699279
20 Followers 89 Following
yariyurek @yariyurek
29 Followers 419 Following
Margarita Stefanova @ItaGenetic
58 Followers 254 Following
marta bertoli @martabi79
4 Followers 47 Following
Steve Laurie @SteveLaurie42
781 Followers 959 Following Celt in BCN. Genetic sleuth at @cnag_eu with focus on rare diseases - @ConnectRD, @Solve_RD, @EJPRareDiseases. All views expressed are my own.
Savita✨️ @savitanutan
420 Followers 1K Following Lecturer • Against animal testing..learnt the hard way • IG: sav_790 • NHS 💙 • Laughter is the best medicine 😄
Joni Turunen @joniturunen
289 Followers 673 Following Ophthalmogenetics. Ophthalmologist at Helsinki University Hospital and the leader of eye genetics research group at Folkhälsan Research Center.
Roselyn Lemus-Martin @roslemusmartin
46K Followers 17K Following Medical Affairs specialist | Molecular oncologist | AI enthusiast | @ASCO @ASEICAnews member | Teaching associate at @Harvard | Tweets in 🇪🇸🇺🇸
#MedicareForAll #Clim.. @FelixMbuga
416 Followers 5K Following Scientist. Engineer. He/Him Nanofabrication. Statistics. Biostatistics. Computational Biology. Genomics. Social Justice. A Just & Livable World For ALL.
Sander Houten @SanderHouten
896 Followers 887 Following Scientist | Clinical Biochemical Geneticist | Icahn School of Medicine at Mount Sinai | husband | father | runner | Dutch | New Yorker
RARUS @atalftm
36 Followers 3K Following ⚜️Nomade istanbouliote. Essex Uni🇬🇧 ICS-ULP 🇫🇷 AFM 🇦🇹 IU🇹🇷🧬rare diseases, indigenous biology. Founder MGL @🇹🇿
Cardiogenetics @cardiogenetics
957 Followers 2K Following Our #research institute aims for better understanding the #genetic factors that lead to #cardiovascular diseases. #heart #DZHK #UKSH #UniLuebeck #COLVI
Hidde Haisma @haismahj
16 Followers 60 Following
Alexander Duyndam @Bucefaal
568 Followers 2K Following Director Communications & External Affairs @Lygature Tweets are my own opinion.
Angela van Tilborg @Postdoggy
129 Followers 525 Following Scientist, Research Manager, Policy Advisor on Research Integrity and Knowledge Security.
Cecilia Lindgren @ceclindgren
8K Followers 1K Following Director of Oxford Big Data Institute. Proud mom of 3. Co-chair of @icdabio. Wellcome Trust Investigator. Promoting equality in academia. Love 🦈. #🕷🕸💙
Mike Inouye @minouye271
7K Followers 450 Following Computational biologist. Geriatric millennial. American Australian. Professor @Cambridge_Uni. Director of Data Sciences @BakerResearchAu. Director @CamBakerSGI.
Cisca Wijmenga @wijmenga_cisca
4K Followers 1K Following former Rector Magnificus @univGroningen | Lodewijk Sandkuijl Dist Univ Prof Human Genetics l KNAW | ERC Adv grantee | Spinoza prize winner | EMBO member
Nine Knoers @knoers
1K Followers 591 Following professor clinical/ medical genetics. Chair Department Genetics, UMC Groningen . former Chair Dutch Society of Clinical Genetics
AnnemiekeAartsma-Rus @oligogirl
3K Followers 486 Following Translating science from bench to bedside and from jargon to lay language
Zoltán Kutalik @zkutalik
2K Followers 630 Following Statistical Geneticist, Group leader at University of Lausanne/Unisante, father, climber, runner
elizabeth vroom @elizabethvroom
768 Followers 158 Following @worldduchenne 🌍 @duchennepp 🇳🇱 @duchenneday 🎈
Christian Schaaf @cpschaaf
1K Followers 772 Following Medical Director and Department Chair, Institute of Human Genetics, University of Heidelberg * Father * Husband * Physician * Scientist * Writer *
Michael Eisen @mbeisen
77K Followers 15K Following I science & try to make science open. Tweets do not represent my employer's views, but are always correct. My conflicts of interest https://t.co/bZ7I9oSJe0.
Silvere vd Maarel @MaarelSilvere
83 Followers 41 Following
Dwi U. Kemaladewi, Ph.. @DKemaladewi
1K Followers 2K Following 👩🏻🔬 Assistant Professor @ChildrensPgh @PittTweet | Rare Neuromuscular Disease Genetics 💪🧠🧬🐀💉 | 🔋 by ☕ & 😍 | HopOnHopOff 🇮🇩🇳🇱🇨🇦🇺🇸➡️🚀🌜
John Inglis @JohnRInglis
3K Followers 562 Following Co-founder of bioRxiv and medRxiv. Publisher and Executive Director, Cold Spring Harbor Laboratory Press
Ans Fagel @AnsLiFa
11 Followers 507 Following
Jeanette Erdmann @JeanetteErdmann
2K Followers 3K Following #TeamScience, Leopoldina, cardiovascular genetics, DZHK, COL6-CMD, Zontian, #TeamWissenschaft, Deutsche Gesellschaft für Muskelkranke e. V., All views my own.
European Journal of H.. @ejhg_journal
8K Followers 7K Following The official journal of the European Society of Human Genetics, providing insights into human genetics, genomics, molecular, clinical and cytogenetics research
Kristian Hveem @kristian_hveem
148 Followers 51 Following Leder av K. G. Jebsen-senter for genetisk epidemiologi, NTNU og professor i klinisk epidemiologi.
Dian Donnai 🕷🇺�.. @Ddysmo
1K Followers 344 Following Emerita Professor of clinical genetics , honorary role in Saint Mary’s, long time Mancunian and NHS supporter. Enjoys travel and being a grandma!
Andres Metspalu @MetspaluAndres
99 Followers 156 Following
Nancy J Cox @NancyGenetics
2K Followers 86 Following Quantitative human geneticist, mom to two daughters and hundreds of trainees, loves family, science, biobanks, & Nashville music. Tweets represent my own views
Inga Prokopenko @Inga_genetics
695 Followers 622 Following Professor of e-One Health, Head of Section of Statistical Multiomics, University of Surrey
European Society of H.. @eshgsociety
6K Followers 957 Following
Loki/Leo @LeoLokie
141 Followers 75 Following liefhebber van muziek (clas. & prog.rock ) - bootvaren - fotograferen en nog van alles....
Henk Stunnenberg @henkstun
320 Followers 109 Following
Samuli Ripatti @samrip
2K Followers 806 Following Samuli Ripatti is director of @fimm_uh, director of @coecdg and professor of biometry at @helsinkiuni.
BBMRI-LPC @BBMRILPC
260 Followers 59 Following BBMRI-Large prospective cohorts, Helping Europeans get healthier
BBMRI-NL @BBMRINL
788 Followers 406 Following Biobanking and Biomolecular Research resources Infrastructure, the Netherlands. Werkt aan bundeling infrastructuren voor een NL Biobank.
Gosia Trynka @GosiaTrynka
4K Followers 789 Following Science Director @OpenTargets and Group Leader @sangerinstitute Genetics, immunology, cats, dogs and all animals, outdoors and bikes
Sara Pulit @saralpulit
1K Followers 527 Following Computational biologist @ Vertex. Immigrant (🇺🇸,🇳🇱,🇬🇧). Interested in the intersect of science and (in)equity. She/her. #blacklivesmatter
Chris Gunter @girlscientist
16K Followers 2K Following Geneticist & science communicator; she/her. Here rarely given new ownership’s policies, and in personal capacity. Tweets my own.
Mark McCarthy @markmccarthyoxf
6K Followers 1K Following Using human genetics to advance knowledge & find new therapies. Otherwise: Liverpool FC, cricket, cinema, seafood, travel. Now at Genentech but views mine.
Magdalena Skipper @Magda_Skipper
18K Followers 761 Following Editor in Chief @nature Geneticist, editor, accidental potter. Former Editor in Chief of @naturecomms. Views are my own
Tuuli Lappalainen @tuuliel
32K Followers 750 Following Professor in genomics at KTH, SciLifeLab, NY Genome Center. Popular science etc. here, hard core science at @tuuliel_lab.
Jeffrey Barrett @jcbarret
22K Followers 505 Following Chief Scientific Officer, Nightingale Health. Formerly led the Covid-19 genomics initiative @sangerinstitute.
Mark Daly @dalygene
6K Followers 345 Following Director, Institute for Molecular Medicine Finland (FIMM); Geneticist, MGH & Broad Institute; Blessed with amazing family
Aarno Palotie @APalotie
844 Followers 23 Following
Paul de Bakker @Piwdb
3K Followers 936 Following head of disease portfolio, data & computational sciences @VertexPharma, ex-faculty @harvardmed @BrighamWomens @umcutrecht
Thees Peereboom @tpeereboom
153 Followers 183 Following independent M&A adviser for media/tech organisations & provider of Second Opinions
Ria Kuip @RiaKuip
116 Followers 817 Following
Katie Bushby @BushbyKate
3K Followers 1K Following Professor Emerita Newcastle University. Working to extend excellence in brain tumour care with Tessa Jowell BCM. Fan of Northumberland seaside & good food.
Jorge Sequeiros @jorgesequeiros
64 Followers 102 FollowingWhy journals should insist on the raw data x.com/theoshantonas/…
I hope the Nobel committee awards Dr. Fauci a Nobel Prize. It will save thousands of lives when those who are following Levitt just because he has a Nobel Prize switch to listening to Fauci. They will switch because Levitt only has 1/3 of a prize and Fauci will have a whole.
After a week in the reds and the purples, finally seeing some oranges, and the promise of some yellow. (The greens here are indoor rather than outdoor sensors). Maybe even be able to get out on my bike later without risk of PM overload. purpleair.com
We proudly announce our new discovery based on an international effort: GBF1 pathogenic de novo and inherited variants cause a novel motor neuropathy. cell.com/ajhg/fulltext/…; @UKKoeln @CMTNeuropathy @AJHGNews; @mndassoc;@CureSMA;@SMAEurope
you actually catch more flies with vinegar than honey #JustSayin
Dit minimale Sikkelmaantje gaat straks plaatsmaken voor een volle Zon
Low-dose corticosteroids: An inexpensive, widely available treatment proven to reduce mortality in patients with severe COVID-19 (those who require oxygen +/- mechanical ventilation) ft.com/content/b77f87…
We need this level of testing back home 🇳🇱
.@BroadGenomics has processed more than 1.1 million #COVID19 tests for nursing homes, @MassDPH, colleges/universities, and public health needs. One in every 20 tests in the U.S. is now processed at Broad. @eric_lander stopped by to thank the team:
Our most recent overview on SMA is now available: annualreviews.org/eprint/PPZF82H… @SMAEurope; @CureSMA; @SMA_UK_ @SMANewsToday ; @StopSMA; @SMAresearch; @UKKoeln
📹 Join the livestream 'Duchenne and the Brain' Sept 7! Researchers, clinicians and families share their experience on #Duchenne and #Becker in relation to the brain. Please share. We can all learn something from this important aspect in DMD and BMD. 🙏 worldduchenneday.org/wdad2020-onlin…
Early morning walk in between bouts of rain. #toolenburgerplas
Insanity is doing the same thing over and over again and expecting different results... unless you resubmit the same grant to NHMRC, in which case you can expect a different result every time.
I´m an outspoken supporter of #WearAMask. Unfortunately, due to my impaired breathing muscles because of my congenital muscular disorder I cannot wear a mask for more than 5 minutes. This is one reason why I´m not going outside since more than 5 months #StayAtHome
#WearAMask RT a photo with your mask to protect the vulnerable from #COVID19
Mainstream testing for #BRCA variants makes little difference to detection rate in affected individuals, but is associated with reduced uptake of cascade testing by relatives. go.nature.com/2DCuxBn
Switching from enzyme replacement therapy to oral migalastat is safe and effective in #FabryDisease. go.nature.com/3j6amvV
Variants in the 5’UTR of #SHOX can interfere with gene expression and cause haploinsufficiency. go.nature.com/3eAlJJm
How might variation in SKOR1 be mechanistically linked to #restlesslegsyndrome? go.nature.com/2Omgsdy
Age related hearing loss is common. It is thought that both genetic and environmental factors play a role. This study demonstrates that a polygenic risk score for deafness
Trends for United States
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