Kate M. Orland

发表

Digenic inheritance novel mutations in SCN5a and SNTA1 increase late I(Na) contributing to LQT syndrome.

C. Valdivia, J. Pu, J. Makielski, 2013, American journal of physiology. Heart and circulatory physiology.

Psychosocial Consequences of False-Positive Newborn Screens for Cystic Fibrosis

A. Tluczek, Kate M Orland, Laura Cavanagh, 2011, Qualitative health research.

Task-Oriented and Bottle Feeding Adversely Affect the Quality of Mother-Infant Interactions After Abnormal Newborn Screens

Anne Chevalier McKechnie, Roger L. Brown, A. Tluczek, 2010, Journal of developmental and behavioral pediatrics : JDBP.

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

Birgit Funke, Eden Haverfield, Ana Morales, 2018, Genetics in Medicine.

Adaptation and validation of the ACMG / AMP variant classification framework for MYH 7-associated inherited cardiomyopathies

Birgit Funke, Eden Haverfield, Ana Morales, 2018 .

Clinical Cardiovascular Genetic Counselors Take a Leading Role in Team-based Variant Classification

Megan E. Grove, C. Caleshu, C. Reuter, 2018, Journal of Genetic Counseling.

Flecainide treats a novel KCNJ2 mutation associated with Andersen-Tawil syndrome

C. January, L. Eckhardt, Kate M Orland, 2016, HeartRhythm case reports.

A Case for Inclusion of Genetic Counselors in Cardiac Care

C. Caleshu, S. Ommen, M. Ackerman, 2016, Cardiology in review.

Shared Decision-Making in Cardiac Electrophysiology Procedures and Arrhythmia Management.

Aisha T. Langford, Paul J. Wang, R. Passman, 2021, Circulation. Arrhythmia and electrophysiology.

Atrial Fibrillation and Long QT Syndrome Presenting in a 12-Year-Old Girl

C. January, K. Maginot, Kate M. Orland, 2012, Case reports in pediatrics.

Clinical and Functional Characterization of Ryanodine Receptor 2 Variants Implicated in Calcium-Release Deficiency Syndrome.

Jeffrey M. Vinocur, A. Wilde, A. Krahn, 2021, JAMA cardiology.

An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia

Rahul C. Deo, J. Healey, C. January, 2020, Circulation.

Long QT Syndrome KCNH2 Variant Induces hERG1a/1b Subunit Imbalance in Patient-Specific Induced Pluripotent Stem Cell–Derived Cardiomyocytes

C. January, T. Kamp, C. Anderson, 2021, Circulation: Arrhythmia and Electrophysiology.

KCNJ2 mutation causes an adrenergic-dependent rectification abnormality with calcium sensitivity and ventricular arrhythmia.

C. January, J. Makielski, L. Eckhardt, 2014, Heart rhythm.

Molecular Autopsy for Sudden Cardiac Death: Current State and Considerations

Kate M Orland, K. Anderson, Kate M. Orland, 2019, Current Genetic Medicine Reports.

Elucidation of ALG10B as a Novel Long-QT Syndrome–Susceptibility Gene

C. January, D. Tester, M. Ackerman, 2023, Circulation. Genomic and precision medicine.

Newborn Screening: An Appeal for Improved Parent Education

Roger L. Brown, A. Tluczek, Audrey Tluczek, 2009, The Journal of perinatal & neonatal nursing.

Parental Attitudes and Ideas Regarding Newborn Screening for Familial Hypercholesterolemia

Xiao Zhang, A. Peterson, Kate M. Orland, 2023, Maternal and Child Health Journal.

Long QT Syndrome KCNH2 Variant Induces hERG1a/1b Subunit Imbalance in Patient-Specific Induced Pluripotent Stem Cell–Derived Cardiomyocytes

C. January, T. Kamp, C. Anderson, 2021, Circulation. Arrhythmia and electrophysiology.

Common and Rare Variant Contributions to Bradyarrhythmias from Multi-Ancestry Meta-Analyses

K. Lunetta, H. May, P. Ellinor, 2023, medRxiv.