Melissa A Kelly

[Melissa A Kelly @MelissaKellyCGC]

@Bmhelm @Sara_Cherny @AnaMoralesCGC @matthewjthomas @murray_bdye Connecting with this group is always one of the highlights of HRS!

[Melissa A Kelly @MelissaKellyCGC]

@ERamosSD @clesemartin @GeisingerRsrch @Marc_GeneDoc @AdamBuchanan76 @Alanna_Rahm @savatt_juliann Miss you too!

[Juliann (Jules) Savatt @savatt_juliann]

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

[Melissa A Kelly @MelissaKellyCGC]

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

[Kristy DiLoreto @KristyDiLoreto]

Excited to be presenting my first ACMG poster on HCM at the #ACMGMtg23

[Melissa A Kelly @MelissaKellyCGC]

@KristyDiLoreto Great job!

[Allison Cirino @AllisonCirino]

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 https://t.co/xQjPy58ViP #CardioGen @GeneticCouns

[Melissa A Kelly @MelissaKellyCGC]

@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!

[Juliann (Jules) Savatt @savatt_juliann]

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

[Juliann (Jules) Savatt @savatt_juliann]

Excited to share our work examining FLCN LoF variants and phenotype rates in a healthcare system population @GeisingerRsrch

[Eric Carruth @EricCarruth3]

Grateful for the opportunity to present this work at #HRS2022 and excited to continue learning from the MyCode population with @ChrisMHaggerty at @GeisingerHealth @GeisingerRsrch

[Melissa A Kelly @MelissaKellyCGC]

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 https://t.co/8OoHAUfocE

[Melissa A Kelly @MelissaKellyCGC]

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