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🆕 Canadian Consensus for Lynch Syndrome Assessment & Testing ▶️ First national study to provide a standard of care for the assessment of LS in Canada: 18 national consensus statements established for universal MMR tumour testing, cascade testing, and germline MGPT. ▶️ Addresses

📝 BMJ Connections Clinical Genetics and Genomics, the open-access companion to JMG, provides a platform for researchers, clinicians, and experts to share high-quality original research, reviews, and perspectives that drive rapid progress in the field. connectionscgg.bmj.com

Become a BMJ Connections Clinical Genetics and Genomics author! ✍️ We encourage #genetics experts to submit high-quality original research and review papers 📝 Review the author guidelines to learn more about submitting connectionscgg.bmj.com/pages/authors

🧬 New from JMG: A novel autosomal recessive neurodevelopmental syndrome is linked to the LSM1 c.231+4A>C variant. ➡️ First cohort study confirms LSM1 as disease-causing ➡️ The c.231+4A>C variant defined as ethnicity-independent pathogenic hotspot 📉 Associated phenotypes

'Advances in Non-Invasive Prenatal Genetic Testing' We have calls for papers in your subject area. Discover our Topic Collection: bit.ly/3REuRCu

🧬 New from #JMG: Can a cancer gene variant be too common to be dangerous? ⚠️ Not always. ▶️High frequency of heterozygous carriers in control populations shouldn't rule out a pathogenic classification for truncating or loss-of-function variants in well-established disease

🎉 Celebrating 60 years of excellence! For 6 decades, we've been at the forefront of groundbreaking research, advancing our understanding of #humangenetics & transforming patient care. Thank you to all the researchers, clinicians, & readers who've been part of this journey.

🧬 New from #JMG: Is it cost-effective to personalise cancer risk for women tested for hereditary breast and ovarian cancer genes? 💡 A UK-based modelling study says: Yes — in specific situations ▶️ For genes like ATM, CHEK2, RAD51C/D, personalised risk assessment (adding genetic

'Advances in Non-Invasive Prenatal Genetic Testing' We have calls for papers in your subject area. Discover our Topic Collection: bit.ly/3REuRCu

🧬 New from #JMG: 📄 UK guidelines released for managing patients with pathogenic variants in POT1 🧪 POT1 is linked to melanoma, angiosarcoma, glioma & haematological cancers — but risks are still unclear. ⚠️Consensus reached on best practice recommendations for a POT1-TPDS UK

🎉 Celebrating 60 years of excellence! For 6 decades, we've been at the forefront of groundbreaking research, advancing our understanding of #humangenetics & transforming patient care. Thank you to all the researchers, clinicians, & readers who've been part of this journey.

🔬 Celebrating JMG's 60th Anniversary and 50 Years of Discovery in Osteogenesis Imperfecta! 📍 From the first population-wide study in Victoria, Australia to a globally recognized dyadic nosology - Prof. David Sillence reflects transformative achievements on the journey in

☢️ Ending Nuclear Weapons, Before They End Us 🩺 Health professionals across the globe are uniting behind a renewed call for nuclear disarmament — and action is urgent.🌍 🔊 The editorial urges all health professionals and organizations to: Support the World Health Assembly

'Advances in Non-Invasive Prenatal Genetic Testing' We have calls for papers in your subject area. Discover our Topic Collection: bit.ly/3REuRCu

Recently published by BMJ Connections Clinical Genetics & Genomics: Multiple #tumours of different lineages likely related to a DNMT3A pathogenic R688H variant. Read it here: 👉 bit.ly/4e1srbs

🧬 New to Journal of Medical Genetics? JMG is a leading international peer-reviewed journal covering original research in #humangenetics, including reviews of and opinion on the latest developments. Listen to our EiC Huw Dorkins introduce the journal and discover more here:

🧬 Say hello to Prof Darren Griffin, EiC of BMJ Connections Clinical Genetics and Genomics - the new companion title to JMG. With a passion for making #genomics more accessible and patient-centered, he's shaping the journal’s future. 🎥 Watch his story & read more about the

🎉 Celebrating 60 years of excellence! For 6 decades, we've been at the forefront of groundbreaking research, advancing our understanding of #humangenetics & transforming patient care. Thank you to all the researchers, clinicians, & readers who've been part of this journey.

Transparency matters 🔬 We’re sharing our latest journal metrics 📊 Impact Factor and top-cited content: bit.ly/466MRy3 👈 By publishing reliable content, we strive to create a healthier world together. #JournalMetrics #BMJGroupImpact

📢 Thinking of submitting to our journal? We proudly welcome submissions from authors worldwide! 🌍 Hear directly from our EiC Huw Dorkins on what we're looking for- then explore our author guidelines to find the best fit for your work: bit.ly/3FHC7eI #GeneticResearch