Search filters

List of works by Andrew P. Landstrom

A 14-year-old in heart failure with multiple cardiomyopathy variants illustrates a role for signal-to-noise analysis in gene test re-interpretation

article

A comprehensive guide to genetic variants and post-translational modifications of cardiac troponin C

scientific article published on 11 November 2020

A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation

scientific article

Amino acid-level signal-to-noise analysis of incidentally identified variants in genes associated with long QT syndrome during pediatric whole exome sequencing reflects background genetic noise

scientific article published on 02 March 2018

An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition

scientific article published on 16 January 2020

Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.

scientific article

Association of Wolff-Parkinson-White With Left Ventricular Noncompaction Cardiomyopathy in Children

scientific article published on 15 October 2019

Calcium Signaling and Cardiac Arrhythmias

scientific article

Cardiac dysregulation following intrahippocampal kainate-induced status epilepticus

scientific article published on 04 March 2020

Copy Number Variants of Undetermined Significance Are Not Associated with Worse Clinical Outcomes in Hypoplastic Left Heart Syndrome

scientific article published on 29 August 2018

Detection of subclinical fabry disease in patients presenting with hypertrophic cardiomyopathy

scientific article

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

scientific article published on 16 January 2019

Disrupted junctional membrane complexes and hyperactive ryanodine receptors after acute junctophilin knockdown in mice

scientific article

Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.

scientific article published in June 2011

Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.

scientific article published on 8 February 2014

Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch.

scientific article published in April 2011

Early experience with intravenous sotalol in children with and without congenital heart disease

scientific article published on 10 July 2018

Emerging roles of junctophilin-2 in the heart and implications for cardiac diseases

scientific article

GWAS or Gee Whiz, PSAS or Pshaw: elucidating the biologic and clinical significance of genetic variation in cardiovascular disease.

scientific article published on 15 September 2009

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

scientific article

Hypertension Susceptibility Loci are Associated with Anthracycline-related Cardiotoxicity in Long-term Childhood Cancer Survivors

scientific article

Hypertrophic Cardiomyopathy Cardiac Troponin C Mutations Differentially Affect Slow Skeletal and Cardiac Muscle Regulation.

scientific article

Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation

scientific article published on 15 April 2019

Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals

scientific article published in April 2017

Intravenous sotalol for the management of postoperative junctional ectopic tachycardia

scientific article published on 30 May 2018

It's not the heart: autonomic nervous system predisposition to lethal ventricular arrhythmias

scientific article published on 8 July 2015

Junctophilin-2 at the intersection of arrhythmia and pathologic cardiac remodeling

scientific article published on 17 November 2015

Junctophilin-2 expression silencing causes cardiocyte hypertrophy and abnormal intracellular calcium-handling

scientific article published on 7 January 2011

Junctophilin-2 is necessary for T-tubule maturation during mouse heart development.

scientific article published on 27 May 2013

Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C

scientific article

Molecular evolution of the junctophilin gene family

scientific article

Mutation E169K in junctophilin-2 causes atrial fibrillation due to impaired RyR2 stabilization.

scientific article published on 21 August 2013

Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy.

scientific article published on December 2010

Novel junctophilin-2 mutation A405S is associated with basal septal hypertrophy and diastolic dysfunction

scientific article published on February 2017

Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current.

scientific article

PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing.

scientific article

Philadelphia chromosome mosaicism at diagnosis in chronic myeloid leukemia: clinical correlates and effect on imatinib mesylate treatment outcome

scientific article published in November 2007

Reduced junctional Na+/Ca2+-exchanger activity contributes to sarcoplasmic reticulum Ca2+ leak in junctophilin-2-deficient mice.

scientific article

Risk Factors for Sudden Infant Death in North Carolina

scientific article published on 10 December 2021

The Achilles’ Heel of Cardiovascular Genetic Testing: Distinguishing Pathogenic Mutations From Background Genetic Noise

scientific article published on October 1, 2011

The junctophilin family of proteins: from bench to bedside

scientific article

Utility of peripheral blood dual color, double fusion fluorescent in situ hybridization for BCR/ABL fusion to assess cytogenetic remission status in chronic myeloid leukemia

scientific article published on 01 October 2006