Hugh D. Allen

发表

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

E. G. Jones, X. Wehrens, H. Galehdari, 2019, Scientific Reports.

Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy

J. Rosenfeld, Yaping Yang, Jeffrey J. Kim, 2022, Journal of personalized medicine.

Efficacy of RyR2 inhibitor EL20 in induced pluripotent stem cell‐derived cardiomyocytes from a patient with catecholaminergic polymorphic ventricular tachycardia

X. Wehrens, R. Strongin, Martha Sibrian-Vazquez, 2021, Journal of cellular and molecular medicine.

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

Mahshid S. Azamian, S. Lalani, S. Morris, 2018, The Journal of pediatrics.

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.

J. Rosenfeld, Yaping Yang, D. Penny, 2018, Heart rhythm.

Meta-analysis of cardiomyopathy-associated variants in troponin genes identifies loci and intragenic hotspots that are associated with worse clinical outcomes.

S. Datta, P. Chase, Jeffrey J. Kim, 2020, Journal of molecular and cellular cardiology.

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

Mahshid S. Azamian, J. Lupski, S. Leal, 2016, Human molecular genetics.

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

Patrick S. Connell, A. Jeewa, S. Denfield, 2018, Clinical case reports.

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

J. Rosenfeld, Yaping Yang, D. Penny, 2017, Circulation. Arrhythmia and electrophysiology.

Variant R94C in TNNT2‐Encoded Troponin T Predisposes to Pediatric Restrictive Cardiomyopathy and Sudden Death Through Impaired Thin Filament Relaxation Resulting in Myocardial Diastolic Dysfunction

Sarah R. Clippinger, W. Dreyer, M. Greenberg, 2020, Journal of the American Heart Association.

Amino Acid-Level Signal-to-Noise Analysis Aids in Pathogenicity Prediction of Incidentally Identified TTN-Encoded Titin Truncating Variants

J. Rosenfeld, P. Liu, Patrick S. Connell, 2020, Circulation. Genomic and precision medicine.

TBX5‐encoded T‐box transcription factor 5 variant T223M is associated with long QT syndrome and pediatric sudden cardiac death

G. Wray, X. Wehrens, Jeffrey J. Kim, 2020, American journal of medical genetics. Part A.

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

X. Wehrens, H. Galehdari, R. Maroofian, 2019, Scientific Reports.

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.

M. Ackerman, N. Boczek, Jeffrey J. Kim, 2016, International journal of cardiology.

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

J. Rosenfeld, Yaping Yang, D. Penny, 2019, Molecular genetics & genomic medicine.