@Bmhelm @Sara_Cherny @AnaMoralesCGC @matthewjthomas @murray_bdye Connecting with this group is always one of the highlights of HRS!
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Melissa A Kelly
13 posts
@ERamosSD @clesemartin @GeisingerRsrch @Marc_GeneDoc @AdamBuchanan76 @Alanna_Rahm @savatt_juliann Miss you too!
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the @GeisingerRsrch gene team! Just missing @Marc_GeneDoc ... he must have been busy doing something else! 😁 #ACMGMtg23
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Melissa A Kelly retweetledi
2nd year @GeisingerCwlth student Tyler Singer presenting on “Characterization of MyCode Participants with Pathogenic or Likely Pathogenic Variants in ENG, ACVRL1, or SMAD4 Associated with Hereditary Hemorrhagic Telangiectasia” from MyCode @GeisingerRsrch #ACMGMtg23
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Our amazing cardio GC @KristyDiLoreto presenting an initial look into rates of cardiomyopathy within MyCode at @GeisingerRsrch. #CardioGen #ACMGMtg23
Kristy DiLoreto@KristyDiLoreto
Excited to be presenting my first ACMG poster on HCM at the #ACMGMtg23
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The 2nd paper from our #HCM systematic review is out w/ a focus on uptake + utility of genetic counseling and testing. This caps a great multi-year collab! @Christian_S_73 @stephharris44 @BrittanyPHansen @MelissaKellyCGC @malinoj doi.org/10.1002/jgc4.1… #CardioGen @GeneticCouns
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@AllisonCirino @Christian_S_73 @stephharris44 @BrittanyPHansen @malinoj @GeneticCouns Agreed! So great to finally see this in print and couldn’t have asked for a better group to collaborate with!
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Melissa A Kelly retweetledi
Sharing our work demonstrating that screening for P/LP variants associated with endocrine tumor syndromes (MEN1, MEN2, VHL, PCC/PGL) in MyCode enabled id of individuals at risk, led to risk management, and facilitated relevant dx #populationscreening #genechat @GeisingerRsrch
BMC Medicine@BMCMedicine
New Research today: Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort Read it here: bmcmedicine.biomedcentral.com/articles/10.11…
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Melissa A Kelly retweetledi
Excited to share our work examining FLCN LoF variants and phenotype rates in a healthcare system population @GeisingerRsrch
Scott Myers@ScottMyers20
Higher freq of FLCN LoF variants than expected based on prevalence estimates, & lower rates of Birt-Hogg-Dubé-associated cutaneous, pulmonary, & renal phenotypes in a healthcare system population @savatt_juliann @clesemartin @dhledbetter @brenda_finucane sciencedirect.com/science/articl…
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Melissa A Kelly retweetledi
Grateful for the opportunity to present this work at #HRS2022 and excited to continue learning from the MyCode population with @ChrisMHaggerty at @GeisingerHealth @GeisingerRsrch
Brianna Davies @Davies7B
Very informative talk by @EricCarruth3 on penetrance of incidental desmosomal variants in the Geisinger MyCode cohort: 5-year risk of VA using ARVC Risk Calculator by @JuliaCTourigny et al is low, gene-specific differences identified #HRS2022
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Ecstatic to finally share the 1st manuscript from our systematic review on genetic testing for HCM - the culmination of 5 yrs with an amazing group! @Christian_S_73 @AllisonCirino @BrittanyPHansen @stephharris44 @malinoj @GeneticCouns #CardioGen #GeneChat openheart.bmj.com/content/9/1/e0…
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Excited to have shared our analysis of ACMG SF genes in 144K Geisinger MyCode participants at #ACMGMtg22. Detection rate increased by 35% between SFv2.0 to v3.0 (2.29% to 3.09%), PALB2: 8% of all cancer results. TTN: 26% of all cardio results (only A-band TTNtv). @GeisingerRsrch
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