Kate Orland

My biggest hope is as clinicians, you will incorporate the “Explain-Name-Validate” framework into your interactions with patients and their families and teach it to your colleagues and students. onlinejcf.com/article/S1071-…

Let me tell you a story about 2 patients we identified via a research study, both with a rare variant in the cardiac troponin T gene, TNNT2; NM_001001430.3: c.571-1G>A. Both had cardiac phenotypes and both had Oceanian ancestry /1

High five to incoming PhD student @SophieHespe for this nice case series of our experiences with FLNC truncating variants. From secondary findings, to highly arrhythmic presentations - this gene tests our expertise in many ways! @bdebneygray 👏 academic.oup.com/ehjcr/article/…

@dilgGC @PrevGenetics I use the Wisconsin State lab of Hygiene DNA banking service! They do a nice job.

The Trouble with Trabeculation: How Genetics Can Help to Unravel a Complex and Controversial Phenotype - new review article, online now at JCTR, describing the genetic basis of LVNC and the diagnostic utility of genetic testing link.springer.com/article/10.100…

Finally - balanced, clear and concise insights to help you understand polygenic scores, the complexities of implementation and potential solutions. Open to all phgfoundation.org/briefing/unpac…

@jodieingles27 Fingers crossed!!!

I think i'm going vomit i'm so anxious C'mon Taylor, I've got a blank space in Feb, *click* and i'll write your name #TaylorSwift #TaylorSwiftErasTour

Although being rapidly incorporated into health care, there are currently no clinical guidelines available for the use of this technology. @TheACMG points to consider document via @GIMJournal sciencedirect.com/science/articl…

I lost a dear patient over the weekend, but not before they participated in a celebration of life where they heard firsthand just how much they mattered to their loved ones If you truly care about someone, tell them while you can This is not a rehearsal #MondayMotivation

The study found that LQT2 patients with non-missense variants of KCNH2 had better clinical outcomes than those with missense variants. These findings could impact treatment options by guiding genetic testing and personalized therapy for LQT2 patients. #cardiotwitter @SADSFoundation #cardiogen #SADS #lqts academic.oup.com/europace/advan…

Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant @Circ_Gen ahajournals.org/doi/10.1161/CI…

Approaches to Genetic Screening in Cardiomyopathies Practical Guidance for Clinicians @JACCJournals jacc.org/doi/10.1016/j.…

🫀 Clinical Features, Genetic Findings, and Risk Stratification in ARVC: Data From a🇧🇷Cohort @CircAHA #CardioEd #Cardiology #Cardiogen #CardioTwitter

🧬Approaches to Genetic Screening in Cardiomyopathies: Practical Guidance for Clinicians @JACCJournals #CardioEd #cardiogen #CardioTwitter

Approaches to Genetic Screening in Cardiomyopathies: Practical Guidanc... sciencedirect.com/science/articl…

Hey #GeneChat I have some thoughts about #IAmAGeneticCounselor, with some personal sharing to do by way of background. Last year I hit a low point, but thanks to the support of my GP, a psychologist, an anti-anxiety pill, and 6 weeks off work, I'm starting 2023 off much better.

I have written 300+ peer-reviewed scientific papers in the last 15 years with more than 27,000 citations. Here is how I use sentence templates to write abstracts at lightning speed. ↓ @acm_chi @academicvoices @PhDVoice @PhD_Genie #AcademicTwitter #AcademicChatter #phdlife

FINALLY able to share with you our latest! You know those papers that make you lose the will to live but also feel so damned proud? 🥲 Well this is mine, and i’m so excited to finally share it. Let me tell you about desmoplakin! @circ_gen #circgen ahajournals.org/doi/abs/10.116… /1

In a retrospective analysis of pts w familial hypercholesterolemia, maternal vs paternal inheritance yielded ↑ burden of subclinical athero. Supports hypothesis that in utero exposure to maternal ↑chol may have long-term consequences ahajournals.org/doi/abs/10.116… @atvbahajournals