Lisa Marie Castillo

  • 274 Citations
20112024
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Research Output 2011 2019

2019
2 Citations (Scopus)

Distinct pathological signatures in human cellular models of myotonic dystrophy subtypes

Kim, E. Y., Barefield, D. Y., Vo, A. H., Gacita, A. M., Schuster, E. J., Wyatt, E. J., Davis, J. L., Dong, B., Sun, C., Page, P., Castillo, L. M., Demonbreun, A. R., Zhang, H. F. & McNally, E. M., Mar 21 2019, In : JCI Insight. 4, 6, 122686.

Research output: Contribution to journalArticle

Open Access
Myotonic Dystrophy
Cardiac Myocytes
Induced Pluripotent Stem Cells
Nucleotides
Trinucleotide Repeat Expansion
2018
2 Citations (Scopus)

Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers

Wyatt, E. J., Demonbreun, A. R., Kim, E. Y., Roy-Puckelwartz, M. J., Vo, A. H., Castillo, L. M., Gao, Q. Q., Vainzof, M., Pavanello, R. C. M., Zatz, M. & McNally, E. M., May 3 2018, In : JCI insight. 3, 9

Research output: Contribution to journalArticle

Open Access
Morpholinos
Exons
Reading Frames
Mutation
Sarcoglycans

Genetic Counselors’ Approach To Postmortem Genetic Testing After Sudden Death: An Exploratory Study

Liu, G., MacLeod, H., Webster, G., McNally, E. M., O’Neill, S. M. & Castillo, L. M., Sep 1 2018, In : Academic Forensic Pathology. 8, 3, p. 738-751 14 p.

Research output: Contribution to journalArticle

Genetic Testing
Sudden Death
Coroners and Medical Examiners
Costs and Cost Analysis
Insurance Coverage
2 Citations (Scopus)

Reducing racial/ethnic disparities in cardiovascular genetic testing

Castillo, L. M., Roy-Puckelwartz, M. J. & McNally, E. M., Apr 1 2018, In : JAMA Cardiology. 3, 4, p. 277-279 3 p.

Research output: Contribution to journalEditorial

Genetic Testing
2017
10 Citations (Scopus)

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

Barefield, D. Y., Roy-Puckelwartz, M. J., Kim, E. Y., Wilsbacher, L. D., Vo, A. H., Waters, E. A., Earley, J. U., Hadhazy, M., Castillo, L. M., Pesce, L. L. & McNally, E. M., Oct 17 2017, In : Circulation. 136, 16, p. 1477-1491 15 p.

Research output: Contribution to journalArticle

Myofibrils
Dilated Cardiomyopathy
Myosins
Cardiac Arrhythmias
Carrier Proteins
2016
13 Citations (Scopus)

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

Kim, E. Y., Page, P., Castillo, L. M., McNally, E. M. & Wyatt, E. J., Sep 15 2016, In : Skeletal Muscle. 6, 1, 32.

Research output: Contribution to journalArticle

Urine
Muscles
Fibroblasts
Clustered Regularly Interspaced Short Palindromic Repeats
Induced Pluripotent Stem Cells
8 Citations (Scopus)

Genotype-specific interaction of latent TGFβ binding protein 4 with TGFβ

Lamar, K. M., Miller, T., Castillo, L. M. & McNally, E. M., Feb 1 2016, In : PLoS One. 11, 2, e0150358.

Research output: Contribution to journalArticle

binding proteins
cardiomyopathy
Carrier Proteins
Dilated Cardiomyopathy
Alleles
2015
17 Citations (Scopus)

Reengineering a transmembrane protein to treat muscular dystrophy using exon skipping

Gao, Q. Q., Wyatt, E., Goldstein, J. A., LoPresti, P., Castillo, L. M., Gazda, A., Petrossian, N., Earley, J. U., Hadhazy, M., Barefield, D. Y., Demonbreun, A. R., Bönnemann, C., Wolf, M. & McNally, E. M., Nov 2 2015, In : Journal of Clinical Investigation. 125, 11, p. 4186-4195 10 p.

Research output: Contribution to journalArticle

Sarcoglycans
Muscular Dystrophies
Exons
Dystrophin
Proteins
2014
26 Citations (Scopus)

Supercomputing for the parallelization of whole genome analysis

Puckelwartz, M. J., Pesce, L. L., Nelakuditi, V., Dellefave-Castillo, L., Golbus, J. R., Day, S. M., Cappola, T. P., Dorn, G. W., Foster, I. T. & Mcnally, E. M., Jun 1 2014, In : Bioinformatics. 30, 11, p. 1508-1513 6 p.

Research output: Contribution to journalArticle

Parallelization
Genome
Genes
Human Genome
Supercomputers
34 Citations (Scopus)

Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy

Golbus, J. R., Puckelwartz, M. J., Dellefave-Castillo, L., Fahrenbach, J. P., Nelakuditi, V., Pesce, L. L., Pytel, P. & McNally, E. M., Dec 1 2014, In : Circulation: Cardiovascular Genetics. 7, 6, p. 751-759 9 p.

Research output: Contribution to journalArticle

Cardiomyopathies
Genome
Mutation
Genes
Genetic Testing
2012
82 Citations (Scopus)

Population-based variation in cardiomyopathy genes

Golbus, J. R., Puckelwartz, M. J., Fahrenbach, J. P., Dellefave-Castillo, L. M., Wolfgeher, D. & McNally, E. M., Aug 1 2012, In : Circulation: Cardiovascular Genetics. 5, 4, p. 391-399 9 p.

Research output: Contribution to journalArticle

Cardiomyopathies
Genome
Sarcomeres
Population
Genes

Response to letter regarding article, Population-based variation in cardiomyopathy genes

Golbus, J. R., Puckelwartz, M. J., Fahrenbach, J. P., Dellefave-Castillo, L. M., Wolfgeher, D. & McNally, E. M., Dec 1 2012, In : Circulation: Cardiovascular Genetics. 5, 6

Research output: Contribution to journalLetter

Cardiomyopathies
Population
Genes
28 Citations (Scopus)

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

Das, D., Gawdzik, J., Dellefave-Castillo, L., McNally, E. M., Husain, A., Raman, J. & Hofmann Bowman, M. A., Aug 21 2012, In : Journal of the American College of Cardiology. 60, 8, p. 775-785 11 p.

Research output: Contribution to journalArticle

Thoracic Aortic Aneurysm
Dissection
Smooth Muscle Myocytes
Caspase 3
S100A12 Protein
2011
50 Citations (Scopus)

Suicidal ideation in Huntington disease: The role of comorbidity

Wetzel, H. H., Gehl, C. R., Dellefave-Castillo, L., Schiffman, J. F., Shannon, K. M. & Paulsen, J. S., Aug 15 2011, In : Psychiatry Research. 188, 3, p. 372-376 5 p.

Research output: Contribution to journalArticle

Suicidal Ideation
Huntington Disease
Comorbidity
Suicide
Psychiatry