Human Molecular Genetics @hmg_journal
Human Molecular Genetics concentrates on full-length research papers covering a wide range of topics in all aspects of human molecular genetics. academic.oup.com/hmg Joined January 2019-
Tweets1K
-
Followers1K
-
Following310
-
Likes654
Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy doi.org/10.1093/hmg/dd…
A loss of function mutation in CLDN25 causing Pelizaeus-Merzbacher-like leukodystrophy doi.org/10.1093/hmg/dd…
Plasticity and structural alterations of mitochondria and sarcoplasmic organelles in muscles of mice deficient in α-dystrobrevin, a component of the dystrophin-glycoprotein complex doi.org/10.1093/hmg/dd…
A multi-ancestry genome-wide association study in type 1 diabetes doi.org/10.1093/hmg/dd…
Real-world evidence: Risdiplam in a patient with spinal muscular atrophy type I with a novel splicing mutation and one SMN2 copy doi.org/10.1093/hmg/dd…
PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice doi.org/10.1093/hmg/dd…
The genetic admixture and assimilation of Ahom: a historic migrant from Thailand to India doi.org/10.1093/hmg/dd…
Congrats to @RobertB_R & colleagues for their new @hmg_journal paper: Mitochondrial abnormalities contribute to muscle weakness in a Dnajb6 deficient zebrafish model. tinyurl.com/y3fc7ev2
Study of prognostic splicing factors in cancer using machine learning approaches doi.org/10.1093/hmg/dd…
Melanoma-associated fibroblasts in tumor-promotion flammation and antitumor immunity: novel mechanisms and potential immunotherapeutic strategies doi.org/10.1093/hmg/dd…
Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation doi.org/10.1093/hmg/dd…
Base editing correction of OCRL in Lowe syndrome: ABE-mediated functional rescue in patient-derived fibroblasts doi.org/10.1093/hmg/dd…
Out today a beautiful study from @KarasBrittany and @KristinTerez on pomt1 zebrafish KOs and why moms matter in @hmg_journal 👇 academic.oup.com/hmg/article/33…
Functional characterization of archaic-specific variants in mitonuclear genes: insights from comparative analysis in S. cerevisiae doi.org/10.1093/hmg/dd…
Construction of a prognostic model for lung adenocarcinoma based on m6A/m5C/m1A genes #LUAD doi.org/10.1093/hmg/dd…
Co-methylation analyses identify CpGs associated with lipid traits in Chinese discordant monozygotic twins doi.org/10.1093/hmg/dd…
SUMMIT-FA: a new resource for improved transcriptome imputation using functional annotations #TWAS #eQTL doi.org/10.1093/hmg/dd…
Development of a breast cancer prognostic model based on vesicle-mediated transport-related genes to predict immune landscape and clinical drug therapy doi.org/10.1093/hmg/dd…
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders doi.org/10.1093/hmg/dd…
Veera Rajagopal @doctorveera
17K Followers 4K Following MBBS, MD, PhD | GWAS storyteller | Scientist at Regeneron | Human genetics & drug discovery in Neuroscience & Psychiatry | He/Him
Abdel Abdellaoui @dr_appie
9K Followers 2K Following Complex Trait Genetics | Population Genetics | Evolutionary Genetics | @AmsterdamUMC | @UvA_Amsterdam
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
GWAS_lit @GWAS_lit
7K Followers 183 Following Pre-publication manuscripts for genome-wide association studies. By @wpgilks Also see @genomic_pred and @Mendelian_lit #GWAS #genetics #genomics #medicine
Dr Cathryn Lewis @cathrynlewis
8K Followers 3K Following Professor of Statistical Genetics. Head of @SGDPCentreKCL. Genetics. Psychiatry. Pharmacogenetics. Executive Director, @PGCgenetics. All views mine
Claudia Gonzaga-Jaure.. @cgonzagaj
2K Followers 815 Following Human Geneticist/Genomicist working on Mendelian & rare genetic disorders to enable Precision Medicine. Tweets/opinions are my own. 🇲🇽 @cgonzagaj 🐦🦣☁️🧵
Matthew S. Alexander @Matt_Muscle_Guy
5K Followers 4K Following Geneticist, Skeletal Muscle, Drug development, Gene therapies. Non-coding RNA, and Zebrafish Aficionado. All tweets are my own. Instagram @thealexanderlab
Zoltán Kutalik @zkutalik
2K Followers 630 Following Statistical Geneticist, Group leader at University of Lausanne/Unisante, father, climber, runner
Clement Chow @ClementYChow
17K Followers 5K Following henfluencer - geriatric millennial - #stopasianhate - don’t call me Clem - emotional eater™️- he/him- @chowlab
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 🧬
James Fasham @JamesFasham
3K Followers 3K Following 🧬👨⚕️Genetics doctor & PhD 💻 💬 Social media: @ESHGsociety @JMG_BMJ and @BritSocGenMed. 🤖 @DiseaseGenes bot creator (#Genetics #Genomics #RareDisease)
Michael Love @mikelove
18K Followers 5K Following I'm not on twitter anymore, find my on Bluesky or Mastodon
Daniela Robles @danie.. @daniela_oaks
8K Followers 7K Following Studying cancer genomics in Latin America. PI @LIIGH_UNAM /Int'l Fellow @SangerInstitute /PhD @Cambridge_Uni /BSc @lcgunam. Views are my own. She/her/hers
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
Chiara Auwerx @CAuwerx
477 Followers 533 Following 🇧🇪🇨🇭| PhD student with Zoltan Kutalik & Alexandre Reymond @unil | CNVs & complex trait genetics 🧬 | ⛵️🥾🌱👩🏻🍳
Razib 🥥 Khan 🧬 .. @razibkhan
72K Followers 4K Following Genes Website: https://t.co/RMRko6hjiZ Cofounder: @genrait_inc YouTube: https://t.co/8qv9j8ivIo Advisor: @boltzmann_net Adisvor: @AtheistsLiberty
Alexander Strudwick Y.. @AlexTISYoung
4K Followers 2K Following Statistical geneticist @ UCLA & part of the SSGAC. Oxford PhD. Research how we can use family data to disentangle nature and nurture. Methods developer.
Mark R Cookson (he/hi.. @MarkRCookson1
5K Followers 5K Following Scientist interested in neurodegeneration and aging. All views/posts are my own.
Ebraheem~ @hemo39441564
304 Followers 264 Following
Emilio Galeazzi @gigigaleazzi
43 Followers 33 Following
Nicolas I. Hagenau @gorelka2024
247 Followers 1K Following
Sophie Dillon @dillon_sop21488
0 Followers 13 Following
Keshab Luitel @LuitelKeshab
1K Followers 4K Following Asst Prof. Deptt of Sanskrit, Gurucharan College,Silchar, Assam. उत्तरं यत् समुद्रस्य हिमाद्रेश्चैव दक्षिणाम् | वर्षं तद् भारतं नाम भारती यत्र सन्ततिः ||
Andrés @salcedoea_andrs
1 Followers 26 Following
Philip Anderson @PhilipA289
98 Followers 230 Following
Mark Durham @TexnWolverineMD
41 Followers 158 Following Future Child Neurology Resident at @MottChildren @UMich | Physician-Scientist | @BCM_MSTP ‘23 | PhD in Zoghbi Lab | @UMich ‘14 | Father of 3 | Fan of Football.
Sumeet Pal Singh @sumeetpalsingh8
2K Followers 4K Following Regenerative & Stress Biology Lab @iribhm_ulb @ULBruxelles | Zebrafish | In vivo Fluorescent Imaging | Liver
Lurie Cancer Center @LurieCancer
10K Followers 6K Following Fueled by research, our Cancer Program at Northwestern Memorial Hospital is ranked among the nation’s best by U.S. News & World Report.
Hafiz Muhammad Jafar .. @Hafiz_aasi
377 Followers 5K Following Husband , educationist, social worker Postdoc Associate at BCM, Houston, Texas, USA 🇺🇸
Lily Zheng @zhlingl
13 Followers 348 Following
James Park @parkjamesh
296 Followers 3K Following
Maximilian Billmann @maxbillmann
253 Followers 1K Following Asst. Prof. @UniBonn @UniklinikBonn | dataScience, ML, funcGenomics, CRISPR screens | Postdoc @UMNComputerSci @DonnellyCentre | PhD @Michael_Boutros @DKFZ
Jaye Moors @kiei_m
74 Followers 163 Following New Account! Coffee ☕️ | Outdoors | Scientist | Research | Health | Genomics | Biology | Medicines | Industry | From 🇼🇸 based in 🇳🇿 | ViewsMyOwn 🏳️⚧️
Graveley Lab @GraveleyLab
4K Followers 1K Following Chair and Professor of Genetics and Genome Sciences at UConn Health. We study RNA biology and CRISPR systems using biochemistry, genomics, and bioinformatics.
Sam Eichhorn @EichhornSam
18 Followers 60 Following BScHons Genetics student at the University of Pretoria
rita.matos @ritabmatos
241 Followers 466 Following ✨PhD student @i3S_UPorto | @COliveiraLabi3S ✨@eshg_young Representative & @CGA-IGC Communications Committee
thunderbolt @thunderbol97583
2 Followers 114 Following
FSHD Japan @fshd_japan
35 Followers 37 Following FSHD(顔面肩甲上腕型筋ジストロフィー)の患者団体。FSHDに関する情報を発信しています。日本筋ジストロフィー協会FSHD分科会が運営しています。
Vijay Ganesh @VGaneshMDPhD
284 Followers 226 Following Neurologist @BrighamWomens, @HarvardMed, Fellow @broadinstitute @bostonchildrens | Improving diagnostics and treatments of genetic neuromuscular diseases.
arianna roberts @arianna05127362
103 Followers 3K Following
Oyesola @SolaOjewunmi
75 Followers 155 Following Oyesola works as a Research Fellow @London School of Hygiene and Tropical Medicine. #Sickle cell disease #genomics of cardio-metabolic traits.
Mauro Lago-Docampo @MuruLago
344 Followers 430 Following Biologist, Ph.D. & gamer. TFs & ncDNA lover. PostDoc at the Rabinovitch Lab @stanfordCVI. Cloning, iPSCs and chromatin to understand penetrance in #PAH.
Gautam Kumar @GautamKuma41661
6 Followers 75 Following
Arístides López @aristides_lopez
588 Followers 3K Following Andaluz | Scout | Doctor en Bioquímica | Genética | Investigación | Universidad | Enfermedades Raras
سعد الهاجري @benlteqy
67 Followers 604 Following
Kyriaki Michailidou @KyrMichailidou
818 Followers 2K Following Genetic epidemiology and biostatistics @NeuroGeneticsCy, mom, views are my own
Dr. Chiara Manzini @MChiaraManzini
1K Followers 1K Following Neurogeneticist studying the causes of autism and neuromuscular disorders. Tweeting on science and science policy in the US and Italy. She/her
Yesmin Faruque @yesminfaruque
8 Followers 2K Following
José Jaime Martínez.. @JJaimeMarti
566 Followers 4K Following Husband, Science, BSc. at @unam_fesz and MSc. at @UNAM_MX, PhD at @UJAT, Postdoc at @Yale
Hamin Lee @Haminhaminl
41 Followers 138 Following PhD student in Genetics & Genomics at Baylor College of Medicine | Zoghbi lab
Erynn Johnson @johnson_erynn
28 Followers 81 Following Biochemist and metabolism junkie | skeletal muscle and rare neuromuscular disease biology | passionate about metabolism for lifestyle optimization
EMBL Science Educatio.. @ELLS_Heidelberg
1K Followers 341 Following Science Education & Public Engagement office of @embl offers training and engagement for European teachers, young learners and diverse publics. Formerly ELLS
GENETISTAS_ESPECIALIS.. @Genetista_x_FSE
824 Followers 5K Following Especialistas de laboratorio vía MIR/FIR/BIR/QIR que realizan diagnóstico genético asistencial La genética clínica NO debe salir del laboratorio clínico
Ghayas Dar @ghayas_dar
23 Followers 457 Following
COMBReG @COMBReG
6 Followers 33 Following ComBReG | Workshops | Seminar | Training | Bridging the gap between cutting-edge technology and life science. #STEM
FlorMcloughlin @FlorMcloug36111
63 Followers 2K Following
sebigec @sebigec
79 Followers 225 Following Cuenta con unl doble propósito: Que la especialidad de futuro sea de Bioquímica y Genética Clínica y unificación de las asociaciones científicas del LC.
Kate Wolstenholme @englangwsfc
986 Followers 2K Following Head of Dept English and Subject Leader for English Language A-Level at Worcester Sixth Form College
The Med13L Foundation @Med13L_Fdn
69 Followers 646 Following Supporting MED13L families through awareness, research, and community. Connecting hearts and minds to overcome challenges. #NDD #Epilepsy #Autism #ID 🧬💙🧠
iraj mousa @irajmuosa
122 Followers 4K Following
Rob García @robertgsev
13 Followers 91 Following 🇨🇴🇦🇷 Neurólogo infantil, neurofisiologia. interesado en enfermedades Neuromusculares
Wholeistic Men's Care @WholeMensCare
137 Followers 327 Following Naturopathy for ailments of the male reproductive system. Understanding foreskin restoration via developmental + regenerative biology. Human rights for all.
Veera Rajagopal @doctorveera
17K Followers 4K Following MBBS, MD, PhD | GWAS storyteller | Scientist at Regeneron | Human genetics & drug discovery in Neuroscience & Psychiatry | He/Him
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
Eric Topol @EricTopol
694K Followers 589 Following physician-scientist, author, editor. Ground Truths: https://t.co/YhatcBT0hA
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 🦈. #🕷🕸💙
National Human Genome.. @genome_gov
81K Followers 447 Following Funding research at the forefront of genomics to improve human health. Formerly the Human Genome Project. https://t.co/4hdQRFkFNU
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.
Science Magazine @ScienceMagazine
4.0M Followers 483 Following The world's leading outlet for cutting-edge research in all areas of science. Follow @NewsfromScience for stories from our news team.
eLife - the journal @eLife
163K Followers 744 Following The funder-researcher collaboration and open-access journal for research in the life and biomedical sciences | @eLifeCommunity
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.
Manolis Kellis @manoliskellis
25K Followers 4K Following Dissecting disease mechanism. Single-cell, Epigenomics, Regulatory Genomics, Disease Genetics, Brain, Cancer, Metabolism. @MIT Prof, @MIT_CSAIL, @BroadInstitute
Ensembl @ensembl
29K Followers 248 Following Ensembl Genome Browser offers open access integrated genome, gene, variation, gene regulation and comparative genomics data on a web browser platform, plus APIs
Dr Cathryn Lewis @cathrynlewis
8K Followers 3K Following Professor of Statistical Genetics. Head of @SGDPCentreKCL. Genetics. Psychiatry. Pharmacogenetics. Executive Director, @PGCgenetics. All views mine
nature @Nature
2.6M Followers 4K Following Research, News, and Commentary from Nature, the international journal of science. For daily science news, get Nature Briefing: https://t.co/wGmQlQ8a4D
Claudia Gonzaga-Jaure.. @cgonzagaj
2K Followers 815 Following Human Geneticist/Genomicist working on Mendelian & rare genetic disorders to enable Precision Medicine. Tweets/opinions are my own. 🇲🇽 @cgonzagaj 🐦🦣☁️🧵
Nature Portfolio @NaturePortfolio
2.2M Followers 2K Following Nature Portfolio’s high-quality products and services across the life, physical, chemical and applied sciences is dedicated to serving the scientific community.
Doudna Lab @doudna_lab
71K Followers 88 Following News from Jennifer Doudna's lab at @UCBerkeley @igisci. Tweets from lab members and not Jennifer Doudna unless signed JD. Tweets represent personal views only.
Matthew S. Alexander @Matt_Muscle_Guy
5K Followers 4K Following Geneticist, Skeletal Muscle, Drug development, Gene therapies. Non-coding RNA, and Zebrafish Aficionado. All tweets are my own. Instagram @thealexanderlab
Zoltán Kutalik @zkutalik
2K Followers 630 Following Statistical Geneticist, Group leader at University of Lausanne/Unisante, father, climber, runner
Nature Genetics @NatureGenet
128K Followers 2K Following Nature Genetics is a monthly journal publishing high impact research in genetics and genomics. RT/like=interesting/relevant, not necessarily endorsement.
David M. Sabatini @DMSabatini
18K Followers 550 Following [email protected] studying rapamycin and mTOR for a long time
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
Feixiong Cheng @FeixiongCheng
1K Followers 1K Following Director, Cleveland Clinic Genome Center. Utilize genomic science and systems biology to predict drug targets and identify mechanisms for Alzheimer’s disease.
Haley Geertsma @HaleyMGeertsma
97 Followers 141 Following PhD Neuroscience candidate at uOttawa studying alpha-synuclein mislocalization in PD | MUN alumn 💪 🧠🧬👩🔬
Maxime Rousseaux @maximewc
1K Followers 639 Following Assistant Professor and CRC studying protein mislocalization, neurodegeneration and functional genomics @uOttawaBMRI @OISB_ISBO. Co-director @GEMb_uOttawa
Oxford University Pre.. @OxUniPress
36K Followers 483 Following Publishing the highest quality academic and educational books and research across the globe. We help millions to achieve their potential.
Professor Dame Sue Hi.. @CSOSue
11K Followers 8K Following I am the Chief Scientific Officer for England and the Senior Responsible Officer for Genomics in the NHS
Peer Community Journa.. @PeerComJournal
1K Followers 104 Following A community-based, diamond open-access journal publishing only articles recommended by @PeerCommunityIn. ISSN 2804-3871. @[email protected]
Prof Deborah Marsh @djmarsh24
3K Followers 3K Following cancer scientist | Discipline Leader, Medical Science @ UTS | mum, enquirer | #WomeninSTEM | just trying to work it all out | thoughts always my own | she/her
Ohio Association of G.. @OhioGenetics
150 Followers 44 Following
Drew Voigt @voigt_drew
554 Followers 328 Following MD/PhD graduate from @IowaMSTP and @ChoroidLab PGY-1 @NMOphthalmology Bioinformatics Vision Research 👁
Cesar Fortes-Lima @CesarFortesLima
1K Followers 1K Following Researcher in Human Population Genetics, studying genomic diversity and demographic history of African and African-descendant populations.
Iain S. Forrest, PhD @IainSForrest
3K Followers 64 Following MD-PhD Student in genomics/artificial intelligence👨🏻⚕️ Postdoctoral fellow @DoGenetics @IcahnMountSinai Electric Cellist/Singer-Songwriter (link below) 🎻
Jerry Coyne @Evolutionistrue
37K Followers 0 Following Superannuated evolutionary biologist, writer, humanist, atheist, secularist and ailurophile.
Razib 🥥 Khan 🧬 .. @razibkhan
72K Followers 4K Following Genes Website: https://t.co/RMRko6hjiZ Cofounder: @genrait_inc YouTube: https://t.co/8qv9j8ivIo Advisor: @boltzmann_net Adisvor: @AtheistsLiberty
Toru Takumi @ToruTakumi
611 Followers 674 Following Professor, Kobe U Sch Med, RIKEN Brain Science Institute, neuroscientist, #autism, neurodevelopmental disorder, psychiatric disorder, #rhythm, sleep, 内匠透
Barbara Engelhardt @BeEngelhardt
10K Followers 1K Following Machine learning, statistical genomics, ML4 health, senior investigator at Gladstone Institutes, professor at Stanford, single mom to four kids. she/her
PacBio @PacBio
46K Followers 3K Following Our mission is to enable the promise of #genomics to better human health by creating the world’s most advanced #sequencing technologies. #PacBio
Timothy Chan @GeneCollector
5K Followers 730 Following Chair, Global Center for Immunotherapy, Cleveland Clinic Health System, @ClevelandClinic; Professor of Medicine; fan of tennis, coral reefs, Legos; views my own
Stan Gerson @StanGersonMD
562 Followers 90 Following Case Comprehensive Cancer Center, past President of AACI, Case Western Reserve University
AACR @AACR
112K Followers 2K Following The mission of the American Association for Cancer Research is to prevent and cure cancer through research, education, communication, and collaboration.
Dana-Farber @DanaFarber
113K Followers 9K Following Dana-Farber Cancer Institute - a leading center for expert, compassionate cancer care and advanced research. Appts: 877-442-3324 | https://t.co/HvCwkLltic
Ruth Keri @RuthKeri2
971 Followers 536 Following Dept. Cancer Biology @CCLRI @ClevelandClinic Professor Mol Med. @CWRUSOM. Associate Director for Basic Research @caseccc; #breastcancer researcher; #FGLI #bcsm
Richard Durbin @richard_durbin
4K Followers 40 Following Computational genomics, population and evolutionary genetics, humans and cichlids. Genetics Dept, University of Cambridge.
Mark Gerstein @MarkGerstein
8K Followers 894 Following #Bioinformatics professor, interested in #DataScience, with photography, triathlons & non-fiction books as hobbies
Graveley Lab @GraveleyLab
4K Followers 1K Following Chair and Professor of Genetics and Genome Sciences at UConn Health. We study RNA biology and CRISPR systems using biochemistry, genomics, and bioinformatics.
Daniela Witten @daniela_witten
49K Followers 754 Following dorothy gilford endowed chair and prof of stat/biostat @uw. all views my own.
Janet Kelso @jfkelso
3K Followers 2K Following Genomics, bioinformatics, ancient DNA. 🇿🇦 Scientist at the Max Planck Institute for Evolutionary Anthropology in Leipzig.
Dr. Brian O'Roak @TheRealDrOLab
1K Followers 708 Following We study genomics, neuroscience, neurodevelopment and its disorders, such as autism. My goal is develop interventions based on one's genetics. My own thoughts.
Kathryn Paige Harden @kph3k
29K Followers 3K Following Professor, mother, Texan. Books: THE GENETIC LOTTERY; working on ORIGINAL SIN. Lab: Developmental Behavior Genetics @UTPsychology https://t.co/rEGnc5IdWY
Kevin Mitchell @WiringTheBrain
39K Followers 2K Following Neurogeneticist interested in genes, brains, and minds. Author of INNATE (2018), FREE AGENTS (2023). https://t.co/PdgAxi6myV
Nicole Barbaro @NicoleBarbaro
18K Followers 1K Following 🧠 PhD | Director of Communications at @HdxAcademy working to improve #HigherEd | talks about: books, science, education, PhD careers | typos & opinions mine
Carl Zimmer @carlzimmer
284K Followers 2K Following I write about science https://t.co/kFEXJadgqf (I didn't pay for that blue check.)
NCI Genomics @NCIgenomics
13K Followers 101 Following Official Twitter account of NCI’s Center for Cancer Genomics (CCG), providing cancer genomics news & updates. Part of @NIH. Privacy Policy: https://t.co/KxAEks7rVB
Richard Haier @rjhaier
10K Followers 230 Following Researcher, Author, The Neuroscience of Intelligence; co-ed, Cambridge Handbook of Intelligence & Cog Neurosci; editor of Intelligence, a scientific journal
Paul Knoepfler @pknoepfler
21K Followers 5K Following Prof @UCDAVIS #Stemcells & peds high-grade glioma epigenomics #CRISPR. Reedie. PhD Mol Path The Niche https://t.co/oXW4PiaYAl YouTube channel https://t.co/s96VUDfokO
Michael Hoffman @mich.. @michaelhoffman
23K Followers 7K Following Chair, Comp Bio & Medicine Program, Princess Margaret Cancer Centre. Assoc Prof, Med Biophysics & Comp Sci, University of Toronto. COI https://t.co/CvupKNIjZr
Nick Loman @pathogenomenick
38K Followers 2K Following Professor of Microbial Genomics and Bioinformatics @unibirmingham, @MRCClimb, Sr. Genomics Adviser @UKHSA, CSO @microbesNG
Stephen Turner @strnr
30K Followers 585 Following Data scientist, bioinformatician, dad, runner, guitar noise-maker. Views my own. https://t.co/isjce46fPW
Simply Statistics @simplystats
63K Followers 284 Following Simply Statistics blog by Jeff Leek, Roger Peng, and Rafael Irizarry. Home to statistics; data; science; and Rafa's Rants.1 in 343 patients harbored copy number variants of ACMG SFv3.2 genes, according to a survey of a large cohort of nearly 11,000 patients bit.ly/3wbJJB5 @MAarabiMDPhD #GIMO #ACMG #CNV #CopyNumberVariants #SecondaryFinding #CopyNumberGain #CopyNumberLoss
Happy to share our latest AI/ML models and multi-omics approaches to identify potent gut metabolites as potential treatments for Alzheimer’s disease. Thanks @NIHAging @CCLRI cell.com/cell-reports/f…
Genome sequencing of healthy people finds 2-5% unknowingly harbor important, actionable, disease- causing gene mutations. A new report @MountSinaiNYC adds to previous studies cell.com/cell-reports-m… @IainSForrest @IcahnMountSinai @DoGenetics
Congrats to @RobertB_R & colleagues for their new @hmg_journal paper: Mitochondrial abnormalities contribute to muscle weakness in a Dnajb6 deficient zebrafish model. tinyurl.com/y3fc7ev2
A mind-blowing discovery of a noncoding region in the human genome that might be holding the answer that 1000s of parents around the world with a child with a neurodevelopmental disorder (NDD) have been patiently waiting for years. A recurrent de novo noncoding single base pair…
Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in @GenomicsEngland ??? I didn’t initially either, but here is the story of RNU4-2 🧵1/9
Out today a beautiful study from @KarasBrittany and @KristinTerez on pomt1 zebrafish KOs and why moms matter in @hmg_journal 👇 academic.oup.com/hmg/article/33…
In this preprint, Aylwyn Scally, Richard Durbin and I present evidence for deep population structure shared by all modern humans biorxiv.org/content/10.110… @aylwyn_scally @richard_durbin
Low frequency and rare variants associated with rheumatoid arthritis Kronzer et al. Nat Rev Rheumatol nature.com/articles/s4158…
New @hmg_journal paper: Get access 📷Plasticity and structural alterations of mitochondria and sarcoplasmic organelles in muscles of mice deficient in alpha-dystrobrevin, a component of the dystrophin-glycoprotein complex. tinyurl.com/2wxhtwkv
m6A RNA methylation regulates mitochondrial function. Findings published in @hmg_journal open up new avenues for understanding the pathogenesis of neurological diseases. academic.oup.com/hmg/article-ab… @NUFeinbergMed
Congrats to @jdowling007 & colleagues for their new @hmg_journal paper: Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy. tinyurl.com/48jjjndb
Our recently published article: we benchmarked top-performing in-silico tools for predicting the pathogenicity of AD IRD variants @bcmgenetics @hmg_journal @BaylorGenetics academic.oup.com/hmg/advance-ar…
@Dpla_ Your genetic interactions remind me of our genetic interactions of a few years ago (VPS35 and Parkin) academic.oup.com/hmg/article/24…
@doctorveera A true great illustration of genetics meeting therapeutics Done a fun study with my team few years back using glycosuria test in population academic.oup.com/hmg/article/28…
We summarized how we may leverage AI and open science approaches to identify disease-modifying drugs and precision medicine for Alzheimer’s disease from @NIHAging thanks @DrJeffCummings @feiwang03 and many others @CCLRI cell.com/action/showPdf…
🎉 Exciting News! 🎉 Our latest study on sickle cell disease genetics just got published in @hmg_journal!🧬 Uncovering new insights into fetal haemoglobin levels. academic.oup.com/hmg/article/do… @JohnStrouboulis @_JohnBrewin @PdbInusa @KCLredcell @DavidRe40855993 #SCD #Genetics
New @hmg_journal paper: Muscle eosinophilia is a hallmark of chronic disease in facioscapulohumeral muscular dystrophy. #FSHD tinyurl.com/8jasj8xp
for improved variant interpretation. We provide a user friendly guide on "how to" and a simple logistic regression calculator here: biostatisticsunitcing.shinyapps.io/Logistic_regre… #variantclassification #breastcancerresearch #progresshappenstogether 3/3
Our work emphasizes the advantages and generalizability of logistic regression analysis over simple proband-counting approaches to empirically determine the relative predictive capacity and weight of various personal clinical features in the context of multigene panel testing 2/3
Trends for United States
You might like
