Uncovering barriers and facilitators to caring for familial hypercholesterolemia

Laney K. Jones , Olivia Schlottmann , Alanna Rahm , Terry Seaton
Journal of Clinical Lipidology 13 ( 3)

2019
Disclosure of s Genetic Risk Variant to Familial Hypercholesterolemia Improves Adherence to Lipid Lowering Therapy

Laney Jones , Nan Chen , Dina Hassen , Tracey Klinger
Journal of Clinical Lipidology 14 ( 4) 563 -564

2020
Pharmacogenomic (PGx) Counseling: Exploring Participant Questions about PGx Test Results.

Tara Schmidlen , Amy Sturm , Laura Scheinfeldt
Journal of Personalized Medicine 10 ( 2) 29

1
2020
Healthcare Utilization and Costs after Receiving a Positive BRCA1/2 Result from a Genomic Screening Program

Jing Hao , Dina Hassen , Kandamurugu Manickam , Michael F. Murray
Journal of Personalized Medicine 10 ( 1) 7

5
2020
Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network.

John Lynch , Richard Sharp , Sharon Aufox , Sarah Bland
Journal of Personalized Medicine 10 ( 2) 38

2
2020
Design and Implementation of a Randomized Controlled Trial of Genomic Counseling for Patients with Chronic Disease

Kevin Sweet , Erynn Gordon , Amy Sturm , Tara Schmidlen
Journal of Personalized Medicine 4 ( 1) 1 -19

22
2014
Early Outcome Data Assessing Utility of a Post-Test Genomic Counseling Framework for the Scalable Delivery of Precision Health.

Amy Sturm , Tara Schmidlen , Laura Scheinfeldt , Shelly Hovick
Journal of Personalized Medicine 8 ( 3) 25

3
2018
2062 Use of cardiac magnetic resonance imaging to identify variable phenotypic expression of an identical sarcomeric protein mutation

Osama Bishara , Elizabeth A Sparks , Amy Sturm , Subha V Raman
Journal of Cardiovascular Magnetic Resonance 10 ( 1) 1 -2

2008
RESPONSES TO RECEIPT OF INCIDENTAL GENETIC FINDINGS FOR FAMILIAL HYPERCHOLESTEROLEMIA IN ADULT BIOBANK PARTICIPANTS

Laney Jones , Alanna Kulchak Rahm , Amy Sturm , Amanda Lazzeri
Journal of the American College of Cardiology 71 ( 11)

2018
Novel gelsolin variant as the cause of nephrotic syndrome and renal amyloidosis in a large kindred

Yvonne A. Efebera , Amy Sturm , Elizabeth C. Baack , Craig C. Hofmeister
Amyloid 21 ( 2) 110 -112

26
2014
Update on Cardiovascular Genetic Counseling 2008

Heather MacLeod , Amy Sturm
Journal of Cardiovascular Translational Research 1 ( 4) 305 -307

2
2008
GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms

Lucas D Ward , Ho-Chou Tu , Chelsea B Quenneville , Shira Tsour
Nature Communications 12 ( 1) 4571 -4571

26
2021
ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma

Kavita Praveen , Gaurang C Patel , Lauren Gurski , Ariane H Ayer
Communications biology 5 ( 1) 1051 -1051

9
2022
The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network

Kathleen A Leppig , Alanna Kulchak Rahm , Paul Appelbaum , Sharon Aufox
Genetics in Medicine 24 ( 5) 1130 -1138

16
2022
Familial Hypercholesterolemia in the EMERGE Network: 1-Year Outcomes After Return of Results

Alborz Sherafati , Ozan Dikilitas , Seyedmohammad Saadatagah , Benjamin Satterfield
Circulation 146 ( Suppl_1) A10822 -A10822

2022
A Phenome-Wide Association Study to Assess Pleiotropic Effects of LPA

Maya S Safarova , Xiao Fan , Gail P Jarvik , Kathleen A Leppig
Circulation 136 ( suppl_1) A20688 -A20688

2017
P120: Prevalence of malignant hyperthermia symptoms in patients receiving RYR1 results through a population genomic screening program

Kristen Yu , Megan Betts , Gretchen Thone , Marci Schwartz
Genetics in Medicine Open 1 ( 1)

2023
Risk Stratification of Severe Hypercholesterolemia Using EHR and Sequencing for Familial Hypercholesterolemia Genes

Prashant Patel , Amy Kolinovsky , Jeffrey Ruhl , Caroline deRichemond
Circulation 136 ( suppl_1) A12130 -A12130

2017