RT @GeneticistsCCMG: Our session was kicked off by @Mark_D_Kilby who discussed prenatal exome sequencing for congenital malformations from…
Our session was kicked off by @Mark_D_Kilby who discussed prenatal exome sequencing for congenital malformations from PAGE study (https://t.co/IZSYZug8WB). Criteria for prenatal @NHS exome-based panels and outcomes were reviewed as well as ethical/future c
Watching this👇 and amazed still at how far Science has come. 👉https://t.co/15JQxJ4jhZ #PAGESTUDY #exomesequencing #fetalmedicine #genomics
@MFMSperling @ericjelin @MySMFM An n of 6 doesn’t give much insight, but 15% yield fits in the narratives of the PAGE (https://t.co/xe8IyRmRXy) and Petrovski studies from the @TheLancet in 2019. Whole exomes not ready for prime time in prenatal diagnosis-
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study - https://t.co/Jkh0eBNDDq
RT @pilarcacheiro: Dominic McMullan: PAGE cohort study https://t.co/qwChLGZoKw #acgs2019
Dominic McMullan: PAGE cohort study https://t.co/qwChLGZoKw #acgs2019
Could prenatal #genomics testing aid in the detection of certain birth defects? A cohort @TheLancet explores the possibilities: https://t.co/1kYS9gXDVM
RT @TheLancet: NEW Research: Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort…
More about exomes in prenatal diagnosis in the upcoming @COGEN_Congress
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. https://t.co/KGMd2GLQCu
RT @MFMSperling: Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. - Pub…
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. - PubMed - NCBI https://t.co/MNdFajpbqJ
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. https://t.co/NzB8eYgUAn
@UNC NV: PAGE study from UK, overall diagnostic yield (when standard tests negative) 15.4% when multisystem abnormalities in fetus, >27% for hydrops. PAGE study https://t.co/JZvPdDjKKd
RT @TheLancet: NEW Research: Prenatal exome sequencing analysis in #fetal structural anomalies detected by ultrasonography (PAGE): a cohort…
RT @TheLancet: NEW Research: Prenatal exome sequencing analysis in #fetal structural anomalies detected by ultrasonography (PAGE): a cohort…
Prospective study: structural anomalies on routine prenatal ultrasound & no aneuploidy or large CNVs —>Fetal and parental whole-exome sequencing showed clinically significant #genetic variants in 8·5% of fetuses in one study and 10·3% in the other!
#openaccess @SMH_GynMatNicu @MFH_Research
#Prenatal exome sequencing analysis in fetal structural anomalie https://t.co/MIxWlwlchR https://t.co/jJnYB9N8Bj
RT @TheLancet: NEW Research: Prenatal exome sequencing analysis in #fetal structural anomalies detected by ultrasonography (PAGE): a cohort…
RT @TheLancet: NEW Research: Prenatal exome sequencing analysis in #fetal structural anomalies detected by ultrasonography (PAGE): a cohort…
RT @TheLancet: NEW Research: Prenatal exome sequencing analysis in #fetal structural anomalies detected by ultrasonography (PAGE): a cohort…
NEW Research: Prenatal exome sequencing analysis in #fetal structural anomalies detected by ultrasonography (PAGE): a cohort study https://t.co/AHrm58vVDb https://t.co/Mw2AJ0DwIq
Shouldn't we be more modest when discussing with parents the virtues of modern #DNA diagnostic tests (#WES) to achieve meaningful results? 2 important papers and a thoughtful comment-open access: https://t.co/L6zd9TbTil https://t.co/rrRrfyzD2j https://t.co
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study https://t.co/d8f39MjUtd
RT @LancetDigitalH: "Whole exome sequencing facilitates genetic diagnosis of fetal structural anomalies, which enables more accurate predic…
"Whole exome sequencing facilitates genetic diagnosis of fetal structural anomalies, which enables more accurate predictions of fetal prognosis and risk of recurrence in future pregnancies" https://t.co/MF2JEmg2tT @TheLancet #Genomics #DigitalHealth https:
RT @TheLancet: NEW Research: Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort…
#diagnosticprénatal association d'anomalies morphologiques et de troubles développementaux : les variants génétiques apportent leur contribution. En accès libre @TheLancet https://t.co/PF45u3zZmc
RT @MuinJKhoury: The introduction of genomics into prenatal diagnosis provides tremendous opportunities but major challenges. Check out 2 n…
RT @healx: Fascinating results from the PAGE PROJECT by Birmingham Women and Children’s Hospital. https://t.co/86s174UNa9
Fascinating results from the PAGE PROJECT by Birmingham Women and Children’s Hospital. https://t.co/86s174UNa9
RT @22Q11_Ireland: Investigation of the clinical usefulness of genome-wide next-generation sequencing in the prenatal setting. @infantcentr…
RT @Congenica: The amazing team at Birmingham Women's & Children's have published their results from the Prenatal Assessment of Genomes & E…
RT @22Q11_Ireland: Investigation of the clinical usefulness of genome-wide next-generation sequencing in the prenatal setting. @infantcentr…
RT @22Q11_Ireland: Investigation of the clinical usefulness of genome-wide next-generation sequencing in the prenatal setting. @infantcentr…
RT @MuinJKhoury: The introduction of genomics into prenatal diagnosis provides tremendous opportunities but major challenges. Check out 2 n…
Investigation of the clinical usefulness of genome-wide next-generation sequencing in the prenatal setting. @infantcentre https://t.co/wBfkD7oMjP
RT @MuinJKhoury: The introduction of genomics into prenatal diagnosis provides tremendous opportunities but major challenges. Check out 2 n…
RT @MuinJKhoury: The introduction of genomics into prenatal diagnosis provides tremendous opportunities but major challenges. Check out 2 n…
RT @MuinJKhoury: The introduction of genomics into prenatal diagnosis provides tremendous opportunities but major challenges. Check out 2 n…
RT @Congenica: The amazing team at Birmingham Women's & Children's have published their results from the Prenatal Assessment of Genomes & E…
RT @Congenica: The amazing team at Birmingham Women's & Children's have published their results from the Prenatal Assessment of Genomes & E…
RT @Congenica: The amazing team at Birmingham Women's & Children's have published their results from the Prenatal Assessment of Genomes & E…
RT @MuinJKhoury: The introduction of genomics into prenatal diagnosis provides tremendous opportunities but major challenges. Check out 2 n…
The introduction of genomics into prenatal diagnosis provides tremendous opportunities but major challenges. Check out 2 new studies in @TheLancet & editorial. https://t.co/7otb9x7pQo & https://t.co/gTWuoUoGUE & https://t.co/WyXASWwW9c https://
The amazing team at Birmingham Women's & Children's have published their results from the Prenatal Assessment of Genomes & Exomes #PAGE project. Pushing the boundaries of what we can do with #genetics @BWC_NHS @WMRGLhttp https://t.co/9s4yhQE6Y5 htt
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. https://t.co/n6cW0SDtXO
RT @Mark_D_Kilby: Just under 10% pathological variant detection. More common in the fetus with multiple, skeletal, cardiac anomalies and hy…
RT @bwclibrary: Well done to @Mark_D_Kilby @BWH_NHS @unibirm_MDS for their @TheLancet article 'Prenatal exome sequencing analysis in fetal…
Well done to @Mark_D_Kilby @BWH_NHS @unibirm_MDS for their @TheLancet article 'Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study'. It is #openaccess so read it free at https://t.co/gvjCQ5B7i
RT @emedgene: Prenatal exome sequencing analysis when fetal structural anomalies detected by ultrasonography. The large cohort study demons…
Prenatal exome sequencing analysis when fetal structural anomalies detected by ultrasonography. The large cohort study demonstrates varying variant detection rate for different structural anomalies. https://t.co/dj72Z2G02v
RT @dom_macski: Finally published! UK PAGE project in full. Exemplar of NHS collaboration thanks to all patients and participating centres…
RT @wi_john: @BHPComms brilliant exemplar of the power of University - NHS collaboration. https://t.co/lz83RqjEYh
RT @ruthiegene: Congratulations on completing this important study with such skill and sensitivity. The greatest transformative potential o…
@BHPComms brilliant exemplar of the power of University - NHS collaboration.
RT @DavidLissauer: Fantastic to read the full PAGE results, well done @Mark_D_Kilby @BWH_NHS @unibirm_MDS Prenatal exome sequencing analysi…
RT @dom_macski: Finally published! UK PAGE project in full. Exemplar of NHS collaboration thanks to all patients and participating centres…
RT @Mark_D_Kilby: Just under 10% pathological variant detection. More common in the fetus with multiple, skeletal, cardiac anomalies and hy…
RT @ProfDBaralle: Well done team! Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a co…
RT @TheLancet: NEW Research: Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort…
Proud to have participated in recruitment of this study #teamBRU
RT @Mark_D_Kilby: Just under 10% pathological variant detection. More common in the fetus with multiple, skeletal, cardiac anomalies and hy…
Fantastic to read the full PAGE results, well done @Mark_D_Kilby @BWH_NHS @unibirm_MDS Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study https://t.co/IW2tZ0YLT8
RT @TheLancet: NEW Research: Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort…
RT @dom_macski: Finally published! UK PAGE project in full. Exemplar of NHS collaboration thanks to all patients and participating centres…
RT @Mark_D_Kilby: Just under 10% pathological variant detection. More common in the fetus with multiple, skeletal, cardiac anomalies and hy…
RT @Mark_D_Kilby: Just under 10% pathological variant detection. More common in the fetus with multiple, skeletal, cardiac anomalies and hy…
Just under 10% pathological variant detection. More common in the fetus with multiple, skeletal, cardiac anomalies and hydrous #PAGE
RT @ruthiegene: Congratulations on completing this important study with such skill and sensitivity. The greatest transformative potential o…
RT @dom_macski: Finally published! UK PAGE project in full. Exemplar of NHS collaboration thanks to all patients and participating centres…
#openaccess @SMH_GynMatNicu @MFH_Research
RT @dom_macski: Finally published! UK PAGE project in full. Exemplar of NHS collaboration thanks to all patients and participating centres…
RT @ProfDBaralle: Well done team! Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a co…
And open access - MEH reported grants from the Wellcome Trust @wellcometrust
RT @dom_macski: Finally published! UK PAGE project in full. Exemplar of NHS collaboration thanks to all patients and participating centres…
RT @RuthEberhardt: Fantastic to see the long-awaited @PAGEnomics paper out in the Lancet @mehurles @dom_macski https://t.co/hVlj7UXbHr
RT @dom_macski: Finally published! UK PAGE project in full. Exemplar of NHS collaboration thanks to all patients and participating centres…
RT @dom_macski: Finally published! UK PAGE project in full. Exemplar of NHS collaboration thanks to all patients and participating centres…
Well done team! Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study - The Lancet https://t.co/ZX7Fxti971
Congratulations on completing this important study with such skill and sensitivity. The greatest transformative potential of all our UK Genomics studies enabling more accurate diagnoses for pregnant women and clinicians working in this difficult area of he
RT @dom_macski: Finally published! UK PAGE project in full. Exemplar of NHS collaboration thanks to all patients and participating centres…
RT @dom_macski: Finally published! UK PAGE project in full. Exemplar of NHS collaboration thanks to all patients and participating centres…
RT @dom_macski: Finally published! UK PAGE project in full. Exemplar of NHS collaboration thanks to all patients and participating centres…
RT @dom_macski: Finally published! UK PAGE project in full. Exemplar of NHS collaboration thanks to all patients and participating centres…
RT @dom_macski: Finally published! UK PAGE project in full. Exemplar of NHS collaboration thanks to all patients and participating centres…
RT @dom_macski: Finally published! UK PAGE project in full. Exemplar of NHS collaboration thanks to all patients and participating centres…
RT @dom_macski: Finally published! UK PAGE project in full. Exemplar of NHS collaboration thanks to all patients and participating centres…
RT @dom_macski: Finally published! UK PAGE project in full. Exemplar of NHS collaboration thanks to all patients and participating centres…
RT @dom_macski: Finally published! UK PAGE project in full. Exemplar of NHS collaboration thanks to all patients and participating centres…
RT @TheLancet: NEW Research: Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort…
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study - The Lancet https://t.co/Wkylgbrm4t
RT @TheLancet: NEW Research: Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort…
NEW Research: Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study https://t.co/6KtrUgIFWT https://t.co/3HroJOwUy2
Prenatal Assessment of Genomes and Exomes- paper is out now!