#ejhg 搜索结果
Welcome to the #EJHG October #JournalClub! This month, we’re discussing: 'A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines' nature.com/articles/s4143…
The latest issue of #EJHG is online! The November issue explores how #genomic medicine is expanding across healthcare systems, #biobanking, collaborative platforms, and patient-centred perspectives. nature.com/ejhg/volumes/3…
Our new issue is online now! This month, #EJHG covers the full spectrum of human #genetics: from novel gene discoveries and rare disease mechanisms to clinical applications and advances in genomic technology. Explore the new issue via the link below! nature.com/ejhg/volumes/3…
WES and telomere analyses in idiopathic pulmonary fibrosis (#IPF) patients uncovered pathogenic RTEL1 and NAF1 variants through a robust, clinically useful tiered virtual gene panel workflow. Read more in the latest issue of #EJHG nature.com/articles/s4143…
Delighted to share that our manuscript entitled “A tiered strategy to identify relevant genetic variants in familial pulmonary fibrosis: a proof of concept for the clinical practice” is now published in the @ejhg_journal November issue
New in #EJHG: Expanding the molecular spectrum of aggrecanopathies: Exploring 24 patients with ACAN significant variants @trigui_melek nature.com/articles/s4143…
Our latest issue is online now! The September issue presents an overview of genomic medicine, encompassing diagnostics, neurogenetics, health policy, digital innovation, and future training. @eshgsociety Find out more in the new issue of #EJHG nature.com/ejhg/volumes/3…
🔬 Special Issue Alert! 🤝 Supported Journal of 3rd European Congress on Human Genetic 🗓️June19-20,Vienna, Austria 🧬 Submit your abstract 📢 Get published in our special issue 💸 Free APC before June #Genetics #HumanGenetics #EJHG #SpecialIssue #OpenAccess #AI
Not all pathogenic variants are in coding regions! This review highlights Mendelian disease-causing UTR variants, their mechanisms, and implications for clinical interpretation. #Mendelian #UTRvariants #ejhg nature.com/articles/s4143…
nature.com
The role of untranslated region variants in Mendelian disease: a review
European Journal of Human Genetics - The role of untranslated region variants in Mendelian disease: a review
Next-generation sequencing (NGS) panels are effective for diagnosing adult neurogenetic disorders in an African LMIC, achieving a 39.5% diagnostic yield comparable to high-income countries. #NextGenSequencing #GeneticDiagnosis #EJHG nature.com/articles/s4143…
The largest overview of #NEB structural variant–associated muscle disorders: Large deletions in NEB are now clearly linked to distal muscle weakness, expanding our understanding of recessive and dominant myopathies. #EJHG #Genetics nature.com/articles/s4143…
nature.com
Structural variation in nebulin and its impact on phenotype and inheritance: establishing a...
European Journal of Human Genetics - Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions
🧬In our study of 268 #colorectalcancer patients < age 41, prevalence of pathogenic germline variants varied dramatically by phenotype. Unless you have unlimited resources, testing decisions should be phenotype-driven! rdcu.be/edTa5 #LynchSyndrome #ejhg
#WES uncovers novel & known pathogenic variants in SPEN, POMT1, MMP2, ARL13B, and SPG11, expanding the genetic spectrum of #neuromuscular disorders and proving its value as a first-line diagnostic tool in LMICs. #EJHG #Genetics #NMD nature.com/articles/s4143…
nature.com
Exome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous...
European Journal of Human Genetics - Exome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous Pakistani Families
~8% of prostate cancer patients carry germline pathogenic variants, mainly in DNA repair genes. These mutations are linked to aggressive disease and inform targeted treatment decisions. #ProstateCancer #Genetics #EJHG nature.com/articles/s4143…
August’s #AltmetricChampion is here! Most discussed paper this month: ‘Utilisation of subsidised genetic and genomic testing in a publicly funded healthcare system, 2014–2023’ Read in #EJHG nature.com/articles/s4143…
nature.com
Utilisation of subsidised genetic and genomic testing in a publicly funded healthcare system...
European Journal of Human Genetics - Utilisation of subsidised genetic and genomic testing in a publicly funded healthcare system 2014–2023
Genetic & genomic testing have grown rapidly over the past decade, yet they still represent only a modest slice of healthcare. nature.com/articles/s4143…
nature.com
Utilisation of subsidised genetic and genomic testing in a publicly funded healthcare system...
European Journal of Human Genetics - Utilisation of subsidised genetic and genomic testing in a publicly funded healthcare system 2014–2023
New #EJHG paper: Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type I. #FSHD tinyurl.com/4uyrc45x
nature.com
Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with...
European Journal of Human Genetics - Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type I
A supervised machine learning model predicts #ALS subtypes with approximately 80% accuracy based on patients' demographics and clinical data. #EJHG #Neurogenetics nature.com/articles/s4143…
Reassessment of #VUS in #tumor suppressor genes using new ClinGen PP1/PP4 guidance can improve variant interpretation accuracy. #EJHG #Genetics nature.com/articles/s4143…
nature.com
Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen...
European Journal of Human Genetics - Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance
🧬 🌐 As we approach 2025, collaboration with non-geneticists is key to making #genomicmedicine accessible. With the rising demand for genomic testing, engaging diverse clinicians will enhance our capacity. From the #EJHG: nature.com/articles/s4143… #Genomics #GenomicsForAll
WES and telomere analyses in idiopathic pulmonary fibrosis (#IPF) patients uncovered pathogenic RTEL1 and NAF1 variants through a robust, clinically useful tiered virtual gene panel workflow. Read more in the latest issue of #EJHG nature.com/articles/s4143…
Delighted to share that our manuscript entitled “A tiered strategy to identify relevant genetic variants in familial pulmonary fibrosis: a proof of concept for the clinical practice” is now published in the @ejhg_journal November issue
The latest issue of #EJHG is online! The November issue explores how #genomic medicine is expanding across healthcare systems, #biobanking, collaborative platforms, and patient-centred perspectives. nature.com/ejhg/volumes/3…
New in #EJHG: Expanding the molecular spectrum of aggrecanopathies: Exploring 24 patients with ACAN significant variants @trigui_melek nature.com/articles/s4143…
Welcome to the #EJHG October #JournalClub! This month, we’re discussing: 'A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines' nature.com/articles/s4143…
A supervised machine learning model predicts #ALS subtypes with approximately 80% accuracy based on patients' demographics and clinical data. #EJHG #Neurogenetics nature.com/articles/s4143…
#WES uncovers novel & known pathogenic variants in SPEN, POMT1, MMP2, ARL13B, and SPG11, expanding the genetic spectrum of #neuromuscular disorders and proving its value as a first-line diagnostic tool in LMICs. #EJHG #Genetics #NMD nature.com/articles/s4143…
nature.com
Exome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous...
European Journal of Human Genetics - Exome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous Pakistani Families
Our new issue is online now! This month, #EJHG covers the full spectrum of human #genetics: from novel gene discoveries and rare disease mechanisms to clinical applications and advances in genomic technology. Explore the new issue via the link below! nature.com/ejhg/volumes/3…
~8% of prostate cancer patients carry germline pathogenic variants, mainly in DNA repair genes. These mutations are linked to aggressive disease and inform targeted treatment decisions. #ProstateCancer #Genetics #EJHG nature.com/articles/s4143…
The largest overview of #NEB structural variant–associated muscle disorders: Large deletions in NEB are now clearly linked to distal muscle weakness, expanding our understanding of recessive and dominant myopathies. #EJHG #Genetics nature.com/articles/s4143…
nature.com
Structural variation in nebulin and its impact on phenotype and inheritance: establishing a...
European Journal of Human Genetics - Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions
Next-generation sequencing (NGS) panels are effective for diagnosing adult neurogenetic disorders in an African LMIC, achieving a 39.5% diagnostic yield comparable to high-income countries. #NextGenSequencing #GeneticDiagnosis #EJHG nature.com/articles/s4143…
New #EJHG paper out today describing why we think #ESRRG is linked to #hearingloss, #hypotonia & motor delay
Welcome to this month’s #EJHG #JournalClub! This month, we’re discussing: 'Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort' from the July issue. @eshgsociety nature.com/articles/s4143…
Welcome to the #EJHG October #JournalClub! This month, we’re discussing: 'A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines' nature.com/articles/s4143…
It is online now! #Genetics #EJHG From neurodevelopmental & neuromuscular disorders to genomic medicine in practice, the August issue expands our understanding of rare diseases, diagnosis, treatment & ethics. @eshgsociety nature.com/ejhg/volumes/3…
Mayan show genetic homogeneity with two predominant Asian haplogroups goo.gl/qVL5DF published in #EJHG
Welcome to this month’s #EJHG #JournalClub! This month, we’re discussing: 'Homozygous COQ9 mutation: a new cause of potentially treatable hereditary spastic paraplegia' from the August issue! nature.com/articles/s4143…
The first report of hereditary spastic paraplegia caused by a COQ9 splicing variant expands the phenotypic spectrum of COQ9-related CoQ10 deficiency and suggests exogenous CoQ10 as a potential therapeutic option. nature.com/articles/s4143…
Our latest issue is online now! The September issue presents an overview of genomic medicine, encompassing diagnostics, neurogenetics, health policy, digital innovation, and future training. @eshgsociety Find out more in the new issue of #EJHG nature.com/ejhg/volumes/3…
Jan Voorwinden @umcg presents study determinants participation expanded carrier screening, soon published in #EJHG
#genomics #ngs @Sandi_Dheensa: 'Read our paper now in #EJHG about recontact in … , see more tweetedtimes.com/search/%23geno…
🔬 Special Issue Alert! 🤝 Supported Journal of 3rd European Congress on Human Genetic 🗓️June19-20,Vienna, Austria 🧬 Submit your abstract 📢 Get published in our special issue 💸 Free APC before June #Genetics #HumanGenetics #EJHG #SpecialIssue #OpenAccess #AI
Our new issue is online now! This month, #EJHG covers the full spectrum of human #genetics: from novel gene discoveries and rare disease mechanisms to clinical applications and advances in genomic technology. Explore the new issue via the link below! nature.com/ejhg/volumes/3…
GGC team helping to identify genes in the @Phelan_McDermid region on chromosome 22 responsible for variable phenotype. #EJHG nature.com/articles/s4143…
Genetic screening of healthy populations? 1 in 38 individuals has a likely pathogenic variant in one of the @TheACMG 59 genes. Via @Nature #EJHG. nature.com/articles/s4143…
🧬In our study of 268 #colorectalcancer patients < age 41, prevalence of pathogenic germline variants varied dramatically by phenotype. Unless you have unlimited resources, testing decisions should be phenotype-driven! rdcu.be/edTa5 #LynchSyndrome #ejhg
Down-Syndrom: Jede zweite Schwangerschaft vorzeitig beendet: Boston – Die zunehmende Verbreitung der Pränataldiagnostik hat in Europa dazu geführt, dass 54 % aller Schwangerschaften mit Down-Syndrom vorzeitig beendet… dlvr.it/RpXcZg #Trisomie21 #Studie #EJHG
Pränataldiagnostik: In Europa wird nur jedes zweite Kind mit Down-Syndrom geboren: Boston – Die zunehmende Verbreitung der Pränataldiagnostik hat in Europa dazu geführt, dass 54 % aller Schwangerschaften mit Down-Syndrom… dlvr.it/RpXBRZ #Trisomie21 #Studie #EJHG
Is group genetic counseling an acceptable alternative to individual counseling? nature.com/ejhg/journal/v… #EJHG
Something went wrong.
Something went wrong.
United States Trends
- 1. Travis Head 14.5K posts
- 2. Caleb Love 2,986 posts
- 3. Mamdani 478K posts
- 4. Marjorie Taylor Greene 73.9K posts
- 5. Sengun 8,834 posts
- 6. Suns 21.6K posts
- 7. Morgan Geekie N/A
- 8. Norvell 3,581 posts
- 9. Lando 50.3K posts
- 10. UNLV 2,279 posts
- 11. Kerr 5,369 posts
- 12. #SmackDown 48.3K posts
- 13. Collin Gillespie 4,148 posts
- 14. #DBLF2025 14K posts
- 15. Blazers 4,114 posts
- 16. Wolves 16.9K posts
- 17. #Ashes2025 30.3K posts
- 18. The View 101K posts
- 19. Florida State 10.9K posts
- 20. joshua 103K posts