JMG EiC Huw Dorkins warmly welcomes the launch of BMJ Connections Clinical Genetics and Genomics - a companion journal to JMG. Watch his short video to learn how both journals will work together! 🧬📢 Great step forward for genetics and #genomics research! @darrenkgriffin

🧬 "I've been a fan of the Journal of Medical Genetics for many years and published some of my best papers in there" - BMJ Connections Clinical Genetics and Genomics EiC Darren Griffin. 🔍 The vision for BMJCCGG? A focus on whole #genome science, science communication, and

📢 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: https://t.co/bGCX9yLIF5 #GeneticResearch

🧬 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

Join us for a live webinar on the first results from a new study assessing the contribution of germline and somatic gene variants to prostate cancer. 📅 Wed 1 Oct, 12pm BST 🔗 https://t.co/vpJ29mAwB8 #ProstateCancer #BMJEvents

🧬 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:

Recently published by BMJ Connections Clinical Genetics & Genomics: Association of PPARG gene variants with obesity in South Indian young adults: a cross-sectional study. Read it here 👉 https://t.co/6HrbEvS21v

🧬 Submitting to BMJ Connections Clinical Genetics and Genomics? Think carefully about #ethics and #contentintegrity — they’re central to every #genetics study. Whether it’s a retrospective analysis or a full clinical trial, ensure the right ethical review is in place. 🤔 Not

🔍 We can’t afford to overlook the crucial issue of #ContentIntegrity. Our EiC, Huw Dorkins, shares how the journal works to uphold research ethics and rigour, especially in the era of #AItools. Find out more about content integrity at BMJ: https://t.co/6YIj50AWB2

Recently published by BMJ Connections Clinical Genetics & Genomics: Estimation of the prevalence of fragile X syndrome in England from the Clinical Practice Research Datalink. Read it here 👉 https://t.co/zIPnraf6fq

🆕 New guidance on reproductive carrier screening in Canada: ▶️ Recommends provincial/territorial pan-ethnic programmes for cystic fibrosis, fragile X syndrome, spinal muscular atrophy, haemoglobinopathies and founder mutations for Tay-Sachs disease, Canavan disease and familial

🧬 How should APC I1307K carriers be managed? ▶️ Using UK Biobank (466 315 participants), @clare__turnbull, @LValleResearch , @ICR_London & colleagues found no significant associations with CRC or other cancers in non-AJ white individuals. This study also highlights the

🌡️ How is #climatechange affecting #health and wellbeing around the world? We're calling for your insights, studies, and voices. Share your research with BMJ Connections Clinical Genetics and Genomics: https://t.co/tH9EGRrJgp #HealthImpact #ClimateCrisis #ClimateEmergency

🧬 Short-read sequencing misses up to ~11% of apparently balanced chromosomal rearrangements (ABCR). ▶️ @NicoChatron & colleagues mapped breakpoints to uncover why they were missed—often repetitive regions. ➡️ Better bioinformatic tools for alignment and calling are key to

🧬 Both Hereditary haemorrhagic telangiectasia (HHT) & juvenile polyposis syndrome (JPS) can be caused by SMAD4 variants. ▶️ @SombreMachin and colleagues developed a functional assay to distinguish benign from pathogenic variants, revealing loss of SMAD4 hetero-oligomerisation as

🧬 For clinicians working in #genetics or areas dealing with inherited conditions - JMG offers clinical guidelines that can inform and support day-to-day practice. Watch our EiC talk about the type of content #clinicians would find useful. Find out more: https://t.co/nXo9hfSgXz

🧬Is there a link between pathogenic variants (PVs) in homologous recombination repair genes and genomic instability (GI) in high-grade ovarian carcinoma tumours? ▶️@BurghelG and colleagues studied >1,000 high-grade ovarian carcinomas showing: 👉The prevalence rate of High GI

🧬 First report of an intragenic inversion in CYP11B1 associated with congenital adrenal hyperplasia ▶️ As shown by @RoucherFlorence and colleagues, this case highlights how such structural variants can be missed by Sanger sequencing and massive parallel sequencing methods. 🔗

🆕 Explore the latest Topic Collections from BMJ Connections Clinical Genetics and Genomics - tailored for busy clinicians and researchers. Listen to the journal's EiC, Darren Griffin, talk about current and upcoming #topiccollections. Start exploring: https://t.co/sJT9HSgnvl

🧬 Could BRIP1 germline variants increase the risk for central nervous system cancers? ▶️ @KMaxwellLab and colleagues reviewed germline & somatic data from 43 families with BRIP1 pathogenic germline variants, and over 1,100 CNS tumours looking for BRIP1 pathogenic variants. 🔗