Lisa Marie Castillo

  • 520 Citations
20032020

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2020

Desmoplakin cardiomyopathy, a fibrotic and inflammatory form of cardiomyopathy distinct from typical dilated or arrhythmogenic right ventricular cardiomyopathy

Smith, E. D., Lakdawala, N. K., Papoutsidakis, N., Aubert, G., Mazzanti, A., McCanta, A. C., Agarwal, P. P., Arscott, P., Dellefave-Castillo, L. M., Vorovich, E. E., Nutakki, K., Wilsbacher, L. D., Priori, S. G., Jacoby, D. L., McNally, E. M. & Helms, A. S., Jun 9 2020, In : Circulation. p. 1872-1884 13 p.

Research output: Contribution to journalArticle

1 Scopus citations
2019

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., Dellefave-Castillo, L., Demonbreun, A., Zhang, H. F. & McNally, E. M., Mar 21 2019, In : JCI Insight. 4, 6, 122686.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network

the eMERGE Consortium, Sep 5 2019, In : American journal of human genetics. 105, 3, p. 588-605 18 p.

Research output: Contribution to journalArticle

10 Scopus citations
2018

Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers

Wyatt, E. J., Demonbreun, A. R., Kim, E. Y., Puckelwartz, M. J., Vo, A. H., Dellefave-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
4 Scopus citations

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. & Dellefave-Castillo, L., Sep 1 2018, In : Academic Forensic Pathology. 8, 3, p. 738-751 14 p.

Research output: Contribution to journalArticle

2017

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

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

Research output: Contribution to journalArticle

14 Scopus citations
2016

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

18 Scopus citations

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

Lamar, K. M., Miller, T., Dellefave-Castillo, L. & McNally, E. M., Feb 2016, In : PloS one. 11, 2, e0150358.

Research output: Contribution to journalArticle

8 Scopus citations
2015

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

19 Scopus citations
2014

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

31 Scopus citations

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

38 Scopus citations
2012

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

91 Scopus citations

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

31 Scopus citations
2011

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

57 Scopus citations
2009
34 Scopus citations
2006

Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene

Gul, A., Hassan, M. J., Mahmood, S., Chen, W., Rahmani, S., Naseer, M. I., Dellefave, L., Muhammad, N., Rafiq, M. A., Ansar, M., Chishti, M. S., Ali, G., Siddique, T. & Ahmad, W., May 1 2006, In : Neurogenetics. 7, 2, p. 105-110 6 p.

Research output: Contribution to journalArticle

45 Scopus citations

Lack of association of VEGF promoter polymorphisms with sporadic ALS

Chen, W., Saeed, M., Mao, H., Siddique, N., Dellefave, L., Hung, W. Y., Deng, H. X., Sufit, R. L., Heller, S. L., Haines, J. L., Pericak-Vance, M. & Siddique, T., Aug 1 2006, In : Neurology. 67, 3, p. 508-510 3 p.

Research output: Contribution to journalArticle

28 Scopus citations
2004
36 Scopus citations
2003
35 Scopus citations