📢 Welcome to our December #JournalClub! 🧬 This month, we’re discussing: "PIGC-related encephalopathy: Lessons learned from 18 new probands" from the latest issue of #EJHG 🔗 www.nature.com/articles/s41...

📢 Welcome to our December #JournalClub! 🧬 This month, we’re discussing: "PIGC-related encephalopathy: Lessons learned from 18 new probands" from the latest issue of #EJHG 🔗 www.nature.com/articles/s41...

📢 Clinical heterogeneity of Xia-Gibbs syndrome: A review of 85 cases identifies three main phenotypic subtypes 🧬 ⬇️ #Genetics #RareDisease #XGS www.nature.com/articles/s41...

📢 Clinical heterogeneity of Xia-Gibbs syndrome: A review of 85 cases identifies three main phenotypic subtypes 🧬 ⬇️ #Genetics #RareDisease #XGS www.nature.com/articles/s41...

📢 Clinical exome sequencing identified 27% of Congenital Anomalies of the Kidney and Urinary Tract ( #CAKUT) cases, surpassing standard gene panels. 🧬 #Genetics #RareDisease New risk genes have been uncovered ⬇️ www.nature.com/articles/s41...

📢 New insights into DLG3 variants reveal a broader, syndromic spectrum of X-linked Intellectual Developmental Disorder 90. 🧬 #Genetics #RareDisease #Neurodevelopment www.nature.com/articles/s41...

📢 New insights into DLG3 variants reveal a broader, syndromic spectrum of X-linked Intellectual Developmental Disorder 90. 🧬 #Genetics #RareDisease #Neurodevelopment www.nature.com/articles/s41...

📢 Whole-exome sequencing in 506 patients with #InheritedRetinalDisease shows approximately 50% diagnostic yield. 🧬 Early onset & family history boost detection, while heterogeneous diseases remain challenging. #Genetics #PrecisionMedicine www.nature.com/articles/s41...

📢 Fragile X without the repeat expansion? 🧬 A rare FMR1 missense variant (p.Gln167Pro) may cause #FragileX features. ⬇️ www.nature.com/articles/s41...

📢 How do patients feel about genomic testing in primary care? Are we ready for genomic medicine at the frontline? 🧬 #Genomics #PrimaryCare #PatientExperience Read more ➡️ www.nature.com/articles/s41...

📢 How do patients feel about genomic testing in primary care? Are we ready for genomic medicine at the frontline? 🧬 #Genomics #PrimaryCare #PatientExperience Read more ➡️ www.nature.com/articles/s41...

📢 The December issue of #EJHG is online! 🧬 New genes, new discoveries, new insights in #HumanGenetics ⬇️⬇️⬇️ www.nature.com/ejhg/volumes...

📢 The December issue of #EJHG is online! 🧬 New genes, new discoveries, new insights in #HumanGenetics ⬇️⬇️⬇️ www.nature.com/ejhg/volumes...

📢 Welcome to this month’s #JournalClub! 🧬 We’re discussing: “Further delineation of defects in MRPS2 causing human OXPHOS deficiency and early developmental abnormalities in zebrafish” from the November issue of #EJHG www.nature.com/articles/s41...

📢 Welcome to this month’s #JournalClub! 🧬 We’re discussing: “Further delineation of defects in MRPS2 causing human OXPHOS deficiency and early developmental abnormalities in zebrafish” from the November issue of #EJHG www.nature.com/articles/s41...

📢 #AltmetricChampion of the November issue! 🧬 Most discussed paper of this month: "Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementation." ⬇️

📢 Analysis of 462 PcG/TrxG patients reveals gene- and patient-level phenotypic clusters that don’t always align with genetic diagnoses, highlighting both convergence and heterogeneity in these rare disorders. 🧬 #Genetics #RareDisease #Epigenetics #PcG #TrxG www.nature.com/articles/s41...

How do expectant parents define the “severity” of a genetic disorder, and how do their perspectives differ from those of healthcare professionals when it comes to pregnancy termination decisions? #Genetics #GeneticCounselling www.nature.com/articles/s41...

How do expectant parents define the “severity” of a genetic disorder, and how do their perspectives differ from those of healthcare professionals when it comes to pregnancy termination decisions? #Genetics #GeneticCounselling www.nature.com/articles/s41...

📢 Genomic testing is expanding across mainstream healthcare, but how well is it being implemented? 🧬 This comprehensive review explores what works, what varies, and what still needs transformation. ⬇️ www.nature.com/articles/s41...

📢 Genomic testing is expanding across mainstream healthcare, but how well is it being implemented? 🧬 This comprehensive review explores what works, what varies, and what still needs transformation. ⬇️ www.nature.com/articles/s41...

Prof Angela Morgan led team calling to better differentiate speech vs language in genetics. Clearer terms = better diagnosis & care. With input from Prof Adam Vogel, our CSO, advancing communication science. In @ejhg-journal.bsky.social 🧪🧠📈 www.nature.com/articles/s41... #bskySPEECHIES

📢 #DMPK intermediate CTG repeats (37–43 units) with CCGCTG interruptions do not expand across generations and are unlikely to act as premutations. 🧬 #MyotonicDystrophy #RareDisease www.nature.com/articles/s41...

📢 Novel heterozygous #MYH10 variants cause ocular coloboma and ptosis without neurodevelopmental disorders, expanding the MYH10 phenotype 🧬 #Genetics #RareDisease www.nature.com/articles/s41...

📢 Novel heterozygous #MYH10 variants cause ocular coloboma and ptosis without neurodevelopmental disorders, expanding the MYH10 phenotype 🧬 #Genetics #RareDisease www.nature.com/articles/s41...

📢 Genome sequencing in 32 fetuses with #prenatal #skeletal abnormalities achieved a 72% diagnostic yield, identifying pathogenic or likely pathogenic variants in most cases. 🧬 www.nature.com/articles/s41...

📢 Genome sequencing in 32 fetuses with #prenatal #skeletal abnormalities achieved a 72% diagnostic yield, identifying pathogenic or likely pathogenic variants in most cases. 🧬 www.nature.com/articles/s41...

📢 WES in 768 patients revealed genetic causes in 65% of #HearingLoss cases, with the highest rates in severe-profound cases (95.8%). Forty novel variants were identified, supporting #WES and parental testing for early intervention. 🧬 www.nature.com/articles/s41...

📢 WES in 768 patients revealed genetic causes in 65% of #HearingLoss cases, with the highest rates in severe-profound cases (95.8%). Forty novel variants were identified, supporting #WES and parental testing for early intervention. 🧬 www.nature.com/articles/s41...

📢 MINDDS-Connect is a platform that enables secure querying of patient samples and the construction of virtual meta-cohorts, while allowing institutions to retain control of their data. 🧬 #Genomics #DataSharing Read more ⬇️ www.nature.com/articles/s41...

📢 MINDDS-Connect is a platform that enables secure querying of patient samples and the construction of virtual meta-cohorts, while allowing institutions to retain control of their data. 🧬 #Genomics #DataSharing Read more ⬇️ www.nature.com/articles/s41...

📢 Rare #ARID2 variants cause a #neurodevelopmental disorder with developmental delay, ID, behavioural issues, and dysmorphic features. A unique DNA methylation episignature may help reclassify #VUS and refine diagnosis. 🧬 🔗 www.nature.com/articles/s41...

📢 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 ⬇️ www.nature.com/articles/s41...

📢 Rare #ARID2 variants cause a #neurodevelopmental disorder with developmental delay, ID, behavioural issues, and dysmorphic features. A unique DNA methylation episignature may help reclassify #VUS and refine diagnosis. 🧬 🔗 www.nature.com/articles/s41...

📢 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. 🧬 www.nature.com/ejhg/volumes...

📢 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. 🧬 www.nature.com/ejhg/volumes...

📢 New #ClinicalGenetics risk assessment tools across Europe to systematise risk evaluation & monitor adverse events. Pinpointing risk enables targeted interventions, helping reduce risk & improve care quality! 🧬 #Genetics #PatientSafety www.nature.com/articles/s41...

📢 Children with #GeneticDisorders deserve specific growth charts too, and the #LMSz method makes this possible! 💡 ➡️ www.nature.com/articles/s41...

📢 Children with #GeneticDisorders deserve specific growth charts too, and the #LMSz method makes this possible! 💡 ➡️ www.nature.com/articles/s41...

📢 New in #EJHG: Expanding the molecular spectrum of aggrecanopathies: Exploring 24 patients with ACAN significant variants 🧬 www.nature.com/articles/s41...

📢 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' ➡️ www.nature.com/articles/s41...

📢 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' ➡️ www.nature.com/articles/s41...

📢 #AltmetricChampion of the October issue! 🧬 Most discussed paper of this month: "Genetic influences on antidepressant side effects: a CYP2C19 gene variation and polygenic risk study in the Estonian Biobank" ⬇️

📢 #AltmetricChampion of the October issue! 🧬 Most discussed paper of this month: "Genetic influences on antidepressant side effects: a CYP2C19 gene variation and polygenic risk study in the Estonian Biobank" ⬇️

🧬 Genomic testing is key for paediatric inborn errors of immunity (IEI), but how do parents experience mainstream genomic testing in #IEI? 📢 Interviews highlight psychosocial impacts and a need for tailored support. @tatyanes.bsky.social #Genetics #RareDisease ⬇️ www.nature.com/articles/s41...

📢 #Face2Gene: AI-driven tool for rare genetic disorders 🧬 #Genetics #AI #RareDisease ⬇️ www.nature.com/articles/s41...

📢 Reassessment of #VUS in #tumor suppressor genes using new #ClinGen PP1/PP4 guidance can improve variant interpretation accuracy. 🧬 #EJHG #Genetics www.nature.com/articles/s41...

Our article describing the "Proto-Dravidian" ancestry has been published in the European Journal of Human Genetics @ejhg-journal.bsky.social Here is a simplified summary of the scientific findings. #protodravidian #ivc #ancientcivilisation popgenworld.blogspot.com/2025/10/trac...

📢 No significant difference in genetic #counseling uptake between healthcare-mediated and family-mediated risk disclosure to 836 relatives at risk of #hereditary cancer. 🧬 📊 The largest RCT of its kind! ⬇️ www.nature.com/articles/s41...

📢 Rapid #WES in children with severe #epilepsy achieves a high diagnostic yield and enables gene-targeted therapies. 🧬 #Genetics #PrecisionMedicine #EJHG www.nature.com/articles/s41...