De novo mutations in regulatory elements in neurodevelopmental disorders https://t.co/gDajWJ71oh #genomics #raredisorders
RT @mehurles: 8000 🇬🇧families, 200 🇬🇧clinicians, 1 super-smart 🇺🇸PhD student. Well done @patrick_j_short. @jcbarret and I enjoyed the ride…
RT @patrick_j_short: Our work on mutations in regulatory elements in families with undiagnosed developmental disorders has been published!…
De novo mutations in regulatory elements in neurodevelopmental disorders https://t.co/c9wmBaqVHa
RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…
RT @mehurles: 8000 🇬🇧families, 200 🇬🇧clinicians, 1 super-smart 🇺🇸PhD student. Well done @patrick_j_short. @jcbarret and I enjoyed the ride…
RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…
RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…
RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…
RT @patrick_j_short: Our work on mutations in regulatory elements in families with undiagnosed developmental disorders has been published!…
RT @patrick_j_short: Our work on mutations in regulatory elements in families with undiagnosed developmental disorders has been published!…
RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…
RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…
RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…
RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…
RT @mehurles: 8000 🇬🇧families, 200 🇬🇧clinicians, 1 super-smart 🇺🇸PhD student. Well done @patrick_j_short. @jcbarret and I enjoyed the ride…
RT @NatureGenet: Online @nature : De novo mutations in regulatory elements in neurodevelopmental disorders https://t.co/epbuoTZKo5 https://…
RT @mehurles: 8000 🇬🇧families, 200 🇬🇧clinicians, 1 super-smart 🇺🇸PhD student. Well done @patrick_j_short. @jcbarret and I enjoyed the ride…
RT @patrick_j_short: Our work on mutations in regulatory elements in families with undiagnosed developmental disorders has been published!…
RT @patrick_j_short: Our work on mutations in regulatory elements in families with undiagnosed developmental disorders has been published!…
RT @mehurles: 8000 🇬🇧families, 200 🇬🇧clinicians, 1 super-smart 🇺🇸PhD student. Well done @patrick_j_short. @jcbarret and I enjoyed the ride…
RT @mehurles: 8000 🇬🇧families, 200 🇬🇧clinicians, 1 super-smart 🇺🇸PhD student. Well done @patrick_j_short. @jcbarret and I enjoyed the ride…
RT @MRC_IGMM: Important paper from DDD consortium, identifying mutations in regulatory elements in neurodevelopmental disorders, co-authors…
RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…
RT @patrick_j_short: Our work on mutations in regulatory elements in families with undiagnosed developmental disorders has been published!…
RT @patrick_j_short: Our work on mutations in regulatory elements in families with undiagnosed developmental disorders has been published!…
RT @patrick_j_short: Our work on mutations in regulatory elements in families with undiagnosed developmental disorders has been published!…
RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…
RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…
RT @NatureGenet: Online @nature : De novo mutations in regulatory elements in neurodevelopmental disorders https://t.co/epbuoTZKo5 https://…
RT @patrick_j_short: Our work on mutations in regulatory elements in families with undiagnosed developmental disorders has been published!…
RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…
pathogenic de novo mutations in fetal brain-active regulatory elements could be present in up to 1-3% of patients without a diagnostic coding variant https://t.co/oCGlUlRTRU
RT @JamesFasham: Another Nature paper for DDD. Congratulations @carolinefwright and others. Currently trying to get my clinician head round…
RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…
RT @mehurles: 8000 🇬🇧families, 200 🇬🇧clinicians, 1 super-smart 🇺🇸PhD student. Well done @patrick_j_short. @jcbarret and I enjoyed the ride…
RT @patrick_j_short: Our work on mutations in regulatory elements in families with undiagnosed developmental disorders has been published!…
RT @NatureGenet: Online @nature : De novo mutations in regulatory elements in neurodevelopmental disorders https://t.co/epbuoTZKo5 https://…
Another Nature paper for DDD. Congratulations @carolinefwright and others. Currently trying to get my clinician head round the methods, any thoughts to follow https://t.co/b3f9Yyh5sD
RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…
RT @patrick_j_short: Our work on mutations in regulatory elements in families with undiagnosed developmental disorders has been published!…
RT @patrick_j_short: Our work on mutations in regulatory elements in families with undiagnosed developmental disorders has been published!…
RT @patrick_j_short: Our work on mutations in regulatory elements in families with undiagnosed developmental disorders has been published!…
RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…
RT @patrick_j_short: Our work on mutations in regulatory elements in families with undiagnosed developmental disorders has been published!…
RT @patrick_j_short: Our work on mutations in regulatory elements in families with undiagnosed developmental disorders has been published!…
RT @mehurles: 8000 🇬🇧families, 200 🇬🇧clinicians, 1 super-smart 🇺🇸PhD student. Well done @patrick_j_short. @jcbarret and I enjoyed the ride…
RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…
RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…
Would you classify a mutation in noncoding RNA RNU12 that causes early onset cerebellar ataxia regulatory? https://t.co/RKLVOoz104 https://t.co/i2eQfXaeHl
RT @stephanecastel: Great work demonstrating the importance of the non-coding genome with respect to rare disease. https://t.co/LRLU17bFFT
De novo #mutations in regulatory elements in #neurodevelopmental disorders, #enhancers https://t.co/6EUOcB6ddb
I guess this gives another piece of evidence that focusing on coding region for functional variants is a smarter choice: De novo mutations in regulatory elements in neurodevelopmental disorders https://t.co/yD4bDjf7lt
RT @PradeepMadapura: De novo mutations in regulatory elements in neurodevelopmental disorders https://t.co/XUzoosPF4B
RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…
RT @obahcall: De novo mutations in regulatory elements in neurodevelopmental disorders @patrick_j_short @mehurles @nature https://t.co/pLgc…
RT @NatureGenet: Online @nature : De novo mutations in regulatory elements in neurodevelopmental disorders https://t.co/epbuoTZKo5 https://…
Very important to start to understand these mutations. https://t.co/2jsIctmRI5
RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…
RT @NatureGenet: Online @nature : De novo mutations in regulatory elements in neurodevelopmental disorders https://t.co/epbuoTZKo5 https://…
RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…
RT @patrick_j_short: Our work on mutations in regulatory elements in families with undiagnosed developmental disorders has been published!…
RT @NatureGenet: Online @nature : De novo mutations in regulatory elements in neurodevelopmental disorders https://t.co/epbuoTZKo5 https://…
RT @patrick_j_short: Our work on mutations in regulatory elements in families with undiagnosed developmental disorders has been published!…
RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…
RT @mehurles: 8000 🇬🇧families, 200 🇬🇧clinicians, 1 super-smart 🇺🇸PhD student. Well done @patrick_j_short. @jcbarret and I enjoyed the ride…
RT @NatureGenet: Online @nature : De novo mutations in regulatory elements in neurodevelopmental disorders https://t.co/epbuoTZKo5 https://…
RT @GabKardon: Interested to read this paper! De novo mutations in regulatory elements in neurodevelopmental disorders https://t.co/Yxefyfn…
RT @mehurles: 8000 🇬🇧families, 200 🇬🇧clinicians, 1 super-smart 🇺🇸PhD student. Well done @patrick_j_short. @jcbarret and I enjoyed the ride…
RT @NatureGenet: Online @nature : De novo mutations in regulatory elements in neurodevelopmental disorders https://t.co/epbuoTZKo5 https://…
Interested to read this paper! De novo mutations in regulatory elements in neurodevelopmental disorders https://t.co/Yxefyfn1qm
RT @obahcall: De novo mutations in regulatory elements in neurodevelopmental disorders @patrick_j_short @mehurles @nature https://t.co/pLgc…
RT @NatureGenet: Online @nature : De novo mutations in regulatory elements in neurodevelopmental disorders https://t.co/epbuoTZKo5 https://…
RT @NatureGenet: Online @nature : De novo mutations in regulatory elements in neurodevelopmental disorders https://t.co/epbuoTZKo5 https://…
RT @patrick_j_short: Our work on mutations in regulatory elements in families with undiagnosed developmental disorders has been published!…
RT @NatureGenet: Online @nature : De novo mutations in regulatory elements in neurodevelopmental disorders https://t.co/epbuoTZKo5 https://…
RT @NatureGenet: Online @nature : De novo mutations in regulatory elements in neurodevelopmental disorders https://t.co/epbuoTZKo5 https://…
RT @NatureGenet: Online @nature : De novo mutations in regulatory elements in neurodevelopmental disorders https://t.co/epbuoTZKo5 https://…
RT @NatureGenet: Online @nature : De novo mutations in regulatory elements in neurodevelopmental disorders https://t.co/epbuoTZKo5 https://…
Online @nature : De novo mutations in regulatory elements in neurodevelopmental disorders https://t.co/epbuoTZKo5 https://t.co/jO0iy0jZiX
RT @patrick_j_short: Our work on mutations in regulatory elements in families with undiagnosed developmental disorders has been published!…
De novo mutations in regulatory elements in neurodevelopmental disorders. https://t.co/KUt9xUMSRT
RT @obahcall: De novo mutations in regulatory elements in neurodevelopmental disorders @patrick_j_short @mehurles @nature https://t.co/pLgc…
De novo mutations in regulatory elements in neurodevelopmental disorders @patrick_j_short @mehurles @nature https://t.co/pLgcQjr7G7 DNM in 3 classes of putative REs in 7,930 patients #DDD. Estimate 1–3% w/o diagnostic coding variant carry pathogenic DNM in
De novo mutations in highly evolutionarily conserved fetal brain-active elements are significantly and specifically enriched in neurodevelopmental disorders. #neuroscience #neurodevelopment https://t.co/yECgQN0L6j
RT @patrick_j_short: Our work on mutations in regulatory elements in families with undiagnosed developmental disorders has been published!…
PubMed: De novo mutations in regulatory elements in neurodevelopmental disorders. https://t.co/SFqd6qDtUv
RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…
RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…
RT @MRC_IGMM: Important paper from DDD consortium, identifying mutations in regulatory elements in neurodevelopmental disorders, co-authors…
De novo mutations in regulatory elements in neurodevelopmental disorders https://t.co/tnuqKAWHpt
RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…
RT @PradeepMadapura: De novo mutations in regulatory elements in neurodevelopmental disorders https://t.co/XUzoosPF4B
RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…
RT @mehurles: 8000 🇬🇧families, 200 🇬🇧clinicians, 1 super-smart 🇺🇸PhD student. Well done @patrick_j_short. @jcbarret and I enjoyed the ride…
RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…
RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…
RT @patrick_j_short: Our work on mutations in regulatory elements in families with undiagnosed developmental disorders has been published!…
RT @MRC_IGMM: Important paper from DDD consortium, identifying mutations in regulatory elements in neurodevelopmental disorders, co-authors…