Lisa M. Dellefave‐Castillo

发表

Population-Based Variation in Cardiomyopathy Genes

Donald Wolfgeher, E. McNally, J. Fahrenbach, 2012, Circulation. Cardiovascular genetics.

Experimental Modeling Supports a Role for MyBP-HL as a Novel Myofilament Component in Arrhythmia and Dilated Cardiomyopathy

Lorenzo L. Pesce, E. A. Waters, Andy H. Vo, 2017, Circulation.

Practitioners’ Confidence and Desires for Education in Cardiovascular and Sudden Cardiac Death Genetics

Maureen E. Smith, L. Rasmussen-Torvik, A. Gordon, 2022, Journal of the American Heart Association.

Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results.

John J. Connolly, David C. Kochan, H. Hakonarson, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

COL3A1 Missense Variant in a Patient Presenting With Hemoptysis.

L. Wilsbacher, A. Riaz, James Paparello, 2021, Circulation. Genomic and precision medicine.

Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing

R. Nussbaum, T. Callis, M. Vatta, 2022, JAMA cardiology.

Genotype-Specific Interaction of Latent TGFβ Binding Protein 4 with TGFβ

E. McNally, Lisa M. Dellefave‐Castillo, Kay-Marie Lamar, 2016, PloS one.

Genetic Counselors’ Approach To Postmortem Genetic Testing After Sudden Death

Suzanne M. O’Neill, E. McNally, G. Webster, 2018, Academic forensic pathology.

Postmortem Genetic Testing Is an Increasingly Utilized Tool in Death Investigation

D. Macaya, Lisa M. Dellefave‐Castillo, H. MacLeod, 2022, Academic forensic pathology.

Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy

K. Yap, K. Rychlik, E. McNally, 2021, Journal of the American Heart Association.

Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers.

Andy H. Vo, M. Zatz, M. Vainzof, 2018, JCI insight.

Direct reprogramming of urine-derived cells with inducible MyoD for modeling human muscle disease

E. McNally, P. Page, Eugene J. Wyatt, 2016, Skeletal Muscle.

Direct reprogramming of urine-derived cells with inducible MyoD for modeling human muscle disease

E. McNally, P. Page, Eugene J. Wyatt, 2016, Skeletal Muscle.

Distinct pathological signatures in human cellular models of myotonic dystrophy subtypes.

Janel L. Davis, Andy H. Vo, Hao F. Zhang, 2019, JCI insight.

Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy

Lorenzo L. Pesce, E. Ashley, M. Wheeler, 2021, Journal of the American Heart Association.

Altered Enhancer and Promoter Usage Leads to Differential Gene Expression in the Normal and Failed Human Heart

M. Nóbrega, E. McNally, D. Barefield, 2020, Circulation. Heart failure.

Enhancer and promoter usage in the normal and failed human heart

M. Nóbrega, E. McNally, D. Barefield, 2020, bioRxiv.

Targeted Analysis of Whole Genome Sequence Data to Diagnose Genetic Cardiomyopathy

Lorenzo L. Pesce, E. McNally, J. Fahrenbach, 2014, Circulation. Cardiovascular genetics.

Supercomputing for the parallelization of whole genome analysis

Ian T. Foster, Lorenzo L. Pesce, Elizabeth M. McNally, 2014, Bioinform..

S100A12 expression in thoracic aortic aneurysm is associated with increased risk of dissection and perioperative complications.

A. Husain, E. McNally, J. Raman, 2012, Journal of the American College of Cardiology.

Genomic Autopsy of Sudden Deaths in Young Individuals.

Lorenzo L. Pesce, Sabah Kadri, K. Yap, 2021, JAMA cardiology.

Prevalence of Abnormal Heart Weight After Sudden Death in People Younger than 40 Years of Age

Lauren C. Balmert, A. George, E. McNally, 2020, Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease.

Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy

S. Priori, A. Mazzanti, P. Agarwal, 2020, Circulation.

Suicidal ideation in Huntington disease: The role of comorbidity

K. Shannon, Jane S. Paulsen, J. Schiffman, 2011, Psychiatry Research.

Integrating clinical genetics in cardiology: Current practices and recommendations for education

Maureen E. Smith, L. Rasmussen-Torvik, C. Scherr, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Mitochondrial cardiomyopathy and ventricular arrhythmias associated with biallelic variants in C1QBP

Nicoleta C. Arva, A. George, N. Arva, 2021, American journal of medical genetics. Part A.

Reducing Racial/Ethnic Disparities in Cardiovascular Genetic Testing.

E. McNally, M. Puckelwartz, Lisa M. Dellefave‐Castillo, 2018, JAMA cardiology.

A 12 Expression in Thoracic Aortic Aneurysm Is Associated With Increased Risk of Dissection and Perioperative Complications

A. Husain, E. McNally, J. Raman, 2012 .

Direct reprogramming of urine-derived cells with inducible MyoD for modeling human muscle disease

E. McNally, P. Page, Eugene J. Wyatt, 2016, Skeletal Muscle.

The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young

M. Yandell, M. Tristani-Firouzi, S. Etheridge, 2024, Genome medicine.

Distinct pathological signatures in human cellular models of myotonic dystrophy subtypes.

Janel L. Davis, Andy H. Vo, Hao F. Zhang, 2019, JCI insight.

Reduction of Filamin C Results in Altered Proteostasis, Cardiomyopathy, and Arrhythmias

L. Choudhury, Alfred L. George, Joyce C. Ohiri, 2024, Journal of the American Heart Association.

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

E. McNally, Lisa M. Dellefave‐Castillo, H. MacLeod, 2014 .