De novo mutations in regulatory elements in neurodevelopmental disorders

Q313 answer: Exons https://t.co/n6soq2b1FA https://t.co/hP1oQj3316 https://t.co/svkP9GGCnB https://t.co/ARo5E1jz8M https://t.co/asLPpi2sPt https://t.co/csWxfTqrsi

1-3% of #neurodevelopmental disorder patients without a diagnostic coding #variant carry #pathogenic de novo mutations in fetal #brain-active #regulatory #elements https://t.co/NgsKrXSRWH @nature

RT @bogglerapture: De novo mutations in regulatory elements in neurodevelopmental disorders. - PubMed - NCBI https://t.co/uKPzmkySQJ

De novo mutations in regulatory elements in neurodevelopmental disorders. - PubMed - NCBI https://t.co/uKPzmkySQJ

Eric Topol: Very impressive dissection of regulatory, de novo mutations https://t.co/lE7W1iHJoL by @mehurles @patrick_j_short et al, a template in neurodevelopment disorders integrating functional + evolutionary data (for understanding regulatory elements)

RT @patrick_j_short: Talking this evening at #BoG2018 about my work on the contribution of mutations in regulatory elements in severe devel…

related paper - "De novo mutations in regulatory elements in neurodevelopmental disorders" https://t.co/rjEIhrfV55 #ccbi18

RT @patrick_j_short: Talking this evening at #BoG2018 about my work on the contribution of mutations in regulatory elements in severe devel…

RT @patrick_j_short: Talking this evening at #BoG2018 about my work on the contribution of mutations in regulatory elements in severe devel…

RT @obahcall: Patrick Short @patrick_j_short #BoG18 contribution of rare de novo mutations in ultra-conserved regulatory elements to neuro…

RT @obahcall: Patrick Short @patrick_j_short #BoG18 contribution of rare de novo mutations in ultra-conserved regulatory elements to neuro…

RT @patrick_j_short: Talking this evening at #BoG2018 about my work on the contribution of mutations in regulatory elements in severe devel…

RT @obahcall: Patrick Short @patrick_j_short #BoG18 contribution of rare de novo mutations in ultra-conserved regulatory elements to neuro…

RT @patrick_j_short: Talking this evening at #BoG2018 about my work on the contribution of mutations in regulatory elements in severe devel…

RT @patrick_j_short: Talking this evening at #BoG2018 about my work on the contribution of mutations in regulatory elements in severe devel…

RT @patrick_j_short: Talking this evening at #BoG2018 about my work on the contribution of mutations in regulatory elements in severe devel…

RT @patrick_j_short: Talking this evening at #BoG2018 about my work on the contribution of mutations in regulatory elements in severe devel…

.@patrick_j_short discussing aspects of recent paper https://t.co/MzraMx626c #BoG18

Patrick Short @patrick_j_short #BoG18 contribution of rare de novo mutations in ultra-conserved regulatory elements to neurodevelopmental disorders in @decipher_wtsi https://t.co/pLgcQjr7G7

RT @patrick_j_short: Talking this evening at #BoG2018 about my work on the contribution of mutations in regulatory elements in severe devel…

RT @patrick_j_short: Talking this evening at #BoG2018 about my work on the contribution of mutations in regulatory elements in severe devel…

RT @patrick_j_short: Talking this evening at #BoG2018 about my work on the contribution of mutations in regulatory elements in severe devel…

RT @patrick_j_short: Talking this evening at #BoG2018 about my work on the contribution of mutations in regulatory elements in severe devel…

RT @patrick_j_short: Talking this evening at #BoG2018 about my work on the contribution of mutations in regulatory elements in severe devel…

Talking this evening at #BoG2018 about my work on the contribution of mutations in regulatory elements in severe developmental disorders with @mehurles and @jcbarret. If you want more details, some of it is covered in this paper! https://t.co/V8EO0JziVv

Les mutacions de novo en elements cerebrals actius altament evolucionats conservats estan enriquits significativament i específica en els trastorns del desenvolupament neurològic: De novo mutations in regulatory elements in neurodevelopmental disorders htt

RT @repositiveio: A study of 8,000 families has shown for the first time that mutations outside of genes can cause developmental problems i…

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 | Nature https://t.co/MK8nakIJHS

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 @repositiveio: A study of 8,000 families has shown for the first time that mutations outside of genes can cause developmental problems i…

RT @repositiveio: A study of 8,000 families has shown for the first time that mutations outside of genes can cause developmental problems i…

RT @repositiveio: A study of 8,000 families has shown for the first time that mutations outside of genes can cause developmental problems i…

RT @repositiveio: A study of 8,000 families has shown for the first time that mutations outside of genes can cause developmental problems i…

A study of 8,000 families has shown for the first time that mutations outside of genes can cause developmental problems in the central nervous system. The study was conducted by researchers at @sangerinstitute and is published in @nature. #Cambridge https:

RT @patrick_j_short: Our work on mutations in regulatory elements in families with undiagnosed developmental disorders has been published!…

RT @NatureBiotech: Significant contribution of de novo mutations in non-coding, regulatory elements to severe neurodevelopmental disorders…

発達障害の調節性変異 - Nature Asia https://t.co/U5BY82SniA https://t.co/G5V4arjuhr

Nature ハイライト：発達障害の調節性変異 | Nature | Nature Research - Nature Asia https://t.co/WcUdspKXIL https://t.co/z5MgOVpd3c

Nature ハイライト：発達障害の調節性変異 | Nature | Nature Research - Nature Asia https://t.co/KtGoeQYGDi https://t.co/uzoyekkh3n

発達障害の調節性変異 - Nature Asia https://t.co/X2gowApwFI https://t.co/yQ0G1MkV4y

Nature ハイライト：発達障害の調節性変異 | Nature | Nature Research - Nature Asia https://t.co/yJsE8n1FUI https://t.co/LNPQDpTd0L

RT @NatureBiotech: Significant contribution of de novo mutations in non-coding, regulatory elements to severe neurodevelopmental disorders…

RT @NatureBiotech: Significant contribution of de novo mutations in non-coding, regulatory elements to severe neurodevelopmental disorders…

RT @NatureBiotech: Significant contribution of de novo mutations in non-coding, regulatory elements to severe neurodevelopmental disorders…

発達障害の調節性変異 - Nature Asia https://t.co/ZHJfdvWKbp https://t.co/3UQAazGF2g

Researchers analyzed targeted sequencing data for three classes of potential regulatory elements in 7,930 individuals with a severe, undiagnosed developmental disorder. #prescottgenomics https://t.co/YlGqA10S0i

RT @NatureBiotech: Significant contribution of de novo mutations in non-coding, regulatory elements to severe neurodevelopmental disorders…

RT @NatureBiotech: Significant contribution of de novo mutations in non-coding, regulatory elements to severe neurodevelopmental disorders…

Nature ハイライト：発達障害の調節性変異 | Nature | Nature Research - Nature Asia https://t.co/mgGBWLbfsz https://t.co/nXfMYJKG4m

RT @NatureBiotech: Significant contribution of de novo mutations in non-coding, regulatory elements to severe neurodevelopmental disorders…

RT @NatureBiotech: Significant contribution of de novo mutations in non-coding, regulatory elements to severe neurodevelopmental disorders…

RT @NatureBiotech: Significant contribution of de novo mutations in non-coding, regulatory elements to severe neurodevelopmental disorders…

RT @NatureBiotech: Significant contribution of de novo mutations in non-coding, regulatory elements to severe neurodevelopmental disorders…

RT @NatureBiotech: Significant contribution of de novo mutations in non-coding, regulatory elements to severe neurodevelopmental disorders…

RT @NatureBiotech: Significant contribution of de novo mutations in non-coding, regulatory elements to severe neurodevelopmental disorders…

Significant contribution of de novo mutations in non-coding, regulatory elements to severe neurodevelopmental disorders https://t.co/YEXV3xl12X #NBThighlight

Nature ハイライト：発達障害の調節性変異 | Nature | Nature Research - Nature Asia https://t.co/jpqega3rYH https://t.co/SG3WYntPsa

Nature ハイライト：発達障害の調節性変異 | Nature | Nature Research - Nature Asia https://t.co/A26A2lqHMV https://t.co/k3F7RIuItK

発達障害の調節性変異 - Nature Asia https://t.co/hEkBpJXWnt https://t.co/CofcoJG3Ph

発達障害の調節性変異 - Nature Asia https://t.co/aCfCNRMiU9 https://t.co/VKruZNoumw

遺伝学： 発達障害の調節性変異 - Nature Asia https://t.co/OZpLlh4ZOY https://t.co/X4YDyflnqM

発達障害の調節性変異 - Nature Asia https://t.co/X5klkMaflf https://t.co/kDk2llx5ZJ

遺伝学： 発達障害の調節性変異 - Nature Asia https://t.co/ocJ6tYrbrF https://t.co/93E5GBZDjr

発達障害の調節性変異 - Nature Asia https://t.co/uRud5Nw74S https://t.co/jlFHk74YJw

遺伝学： 発達障害の調節性変異 - Nature Asia https://t.co/z5ZY0CicOb https://t.co/31GjamELet

発達障害の調節性変異 - Nature Asia https://t.co/YmcCyvyu2Z https://t.co/doApTz4A8o

遺伝学： 発達障害の調節性変異 - Nature Asia https://t.co/lNGnH7XBfg https://t.co/CgtNxKKCxy

RT @EricTopol: Very impressive dissection of regulatory, de novo mutations https://t.co/OxSLhEknKg by @mehurles @patrick_j_short et al, a t…

遺伝学： 発達障害の調節性変異 - Nature Asia https://t.co/j2MEEEGX4D https://t.co/PvE86wRJNT

RT @GogosLabZMBBI: Large-scale confirmation of our 2016 findings De novo mutations in regulatory elements in neurodevelopmental disorders h…

発達障害の調節性変異 - Nature Asia https://t.co/3ctIKJ5mjA https://t.co/qZIef3yyaa

発達障害の調節性変異 - Nature Asia https://t.co/EeFOWzSqUv https://t.co/3dUF99ZbNN

Large-scale confirmation of our 2016 findings De novo mutations in regulatory elements in neurodevelopmental disorders https://t.co/MONwAd5nDd

RT @NatureGenet: Online @nature : De novo mutations in regulatory elements in neurodevelopmental disorders https://t.co/epbuoTZKo5 https://…

遺伝学： 発達障害の調節性変異[12:45] https://t.co/kDCk8XDbkR

RT @Trinity_13: de novo変異の話。ゲノムワイドのノンコーディングな変異が神経発達障害の発現に大きく寄与。従来よりもde novo変異（といっても種類があるが）の寄与度が高いという研究？ ＞（Narureハイライトより）「遺伝学：発達障害の調節性変異」 ht…

de novo変異の話。ゲノムワイドのノンコーディングな変異が神経発達障害の発現に大きく寄与。従来よりもde novo変異（といっても種類があるが）の寄与度が高いという研究？ ＞（Narureハイライトより）「遺伝学：発達障害の調節性変異」 https://t.co/DrMGVh4vqW

Nature ハイライト：発達障害の調節性変異 | Nature | Nature Research: https://t.co/TUduLFpbYl

Nature ハイライト：発達障害の調節性変異 | Nature | Nature Research: https://t.co/9MQpdx8iPG

遺伝学： 発達障害の調節性変異 - Nature Asia https://t.co/ga0rR9Qe9Z https://t.co/gMyMHYwxA0

네이처 하이라이트：신경 발달 이상에서 나타나는 조절 인자의 de novo 돌연변이 https://t.co/Sr9PZye68J

遺伝学： 発達障害の調節性変異 - Nature Asia https://t.co/IV5XoZozP6 https://t.co/89tL2vNKd4

Nature ハイライト：発達障害の調節性変異 https://t.co/csY7jxS6ca #発達障害 #遺伝学

A recent Nature article “De novo Mutations in Regulatory Elements in Neurodevelopmental Disorders” reveals that gene regulation aspects play a key role in development of neurodevelopmental disorders. Exactly as we have always said! More info available at h

@Laura_Rocci @clausmia66 Veramente è un argomento su cui si stanno spendendo miliardi, e ci sono risultati eccezionali. (l'autismo è genetico in maniera preponderante, nulla a che fare coi vax). Per es. uno degli studi più recenti pubblicato su Nature: htt

RT @Congenica: A study on the rates of de novo disease causing variants in neurodevelopmental disorders https://t.co/BuLTm182y0 #neurodevel…

A study on the rates of de novo disease causing variants in neurodevelopmental disorders https://t.co/BuLTm182y0 #neurodevelopmentaldisorders https://t.co/lB9kgIJGOb

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!…

De novo mutations in regulatory elements in neurodevelopmental disorders https://t.co/nTb8oU2IQE

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 @jsantoyo: De novo mutations in regulatory elements in neurodevelopmental disorders. https://t.co/SExn6kxF8c

De novo mutations in regulatory elements in neurodevelopmental disorders. https://t.co/SExn6kxF8c

RT @kerencarss: Really important study- a long-awaited look beyond the genes. at least 1-3% of children with unsolved severe developmental…

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…

De novo mutations in regulatory elements in neurodevelopmental disorders https://t.co/3peVkQVHcm