Julianne Wojciak

发表

Functional phenotype variations of two novel KV7.1 mutations identified in patients with Long QT syndrome

R. Nussbaum, M. Scheinman, M. Refaat, 2020, Pacing and clinical electrophysiology : PACE.

Arrhythmogenic Right Ventricular Caused by a Novel Frameshift Mutation

P. Kwok, M. Scheinman, M. Refaat, 2016 .

Arrhythmogenic Right Ventricular Cardiomyopathy Caused by a Novel Frameshift Mutation.

P. Kwok, M. Scheinman, M. Refaat, 2016, Cardiac electrophysiology clinics.

The structure of a calsequestrin filament reveals mechanisms of familial arrhythmia

Rahul C. Deo, R. Deo, M. Scheinman, 2019, Nature Structural & Molecular Biology.

The Many Faces of Early Repolarization Syndrome:A Single Center Case-Series.

V. Vedantham, J. Moss, M. Scheinman, 2020, Heart rhythm.

Plasma BIN1 correlates with heart failure and predicts arrhythmia in patients with arrhythmogenic right ventricular cardiomyopathy.

H. Calkins, D. Judge, P. Ganz, 2012, Heart rhythm.

Atrial standstill in a pediatric patient with associated caveolin-3 mutation

R. Tanel, Akash Patel, Jennifer L. Perera, 2017, HeartRhythm case reports.

Calcium Transients Closely Reflect Prolonged Action Potentials in iPSC Models of Inherited Cardiac Arrhythmia

Kevin E. Healy, Katriina Aalto-Setälä, Bruce R. Conklin, 2014, Stem cell reports.

Bundle Branch Reentrant Ventricular Tachycardia : Novel Genetic Mechanisms in a Life-Threatening Arrhythmia

P. Kwok, V. Vedantham, J. Olgin, 2016 .

Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.

E. Behr, P. Schwartz, G. Parati, 2019, European heart journal.

Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation?

J. Healey, E. Behr, A. Moss, 2017, Circulation. Arrhythmia and electrophysiology.

A Novel Ryanodine Receptor Mutation Linked to Sudden Death Increases Sensitivity to Cytosolic Calcium

Miroslav Dura, M. Scheinman, S. Reiken, 2011, Circulation research.

Multiple genetic variations in sodium channel subunits in a case of sudden infant death syndrome

M. Scheinman, B. Bentzen, N. Schmitt, 2018, Pacing and clinical electrophysiology : PACE.

Characterization and Mechanisms of Action of Novel NaV1.5 Channel Mutations Associated With Brugada Syndrome

R. Nussbaum, M. Scheinman, K. Calloe, 2013, Circulation. Arrhythmia and electrophysiology.

High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance

Robert L. Nussbaum, Nicole Schmitt, R. Nussbaum, 2015, Scientific Reports.

The crystal structure of a cardiac calsequestrin filament reveals an atomic mechanism of calsequestrin-associated catecholaminergic polymorphic ventricular tachycardia

E. Titus, Julianne Wojciak, Frederick H. Deiter, 2019 .

The structure of a calsequestrin ﬁlament reveals mechanisms of familial arrhythmia

E. Titus, Julianne Wojciak, Frederick H. Deiter, 2022 .

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Silvio C. E. Tosatto, Julius O. B. Jacobsen, Nicholas A. Sinnott-Armstrong, 2024, Genome biology.

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Nicholas A. Sinnott-Armstrong, Jonathan M. Mudge, Hui Ting Grace Yeo, 2022, Genome biology.

Calcium Transients Closely Reflect Prolonged Action Potentials in iPSC Models of Inherited Cardiac Arrhythmia

C. January, S. Yamanaka, J. Makielski, 2014, Stem cell reports.

Bundle Branch Re-Entrant Ventricular Tachycardia: Novel Genetic Mechanisms in a Life-Threatening Arrhythmia.

Rahul C. Deo, P. Kwok, J. Olgin, 2017, JACC. Clinical electrophysiology.