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21 results on '"Dellefave-Castillo, Lisa M."'

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

Author

Puckelwartz, Megan J., Pesce, Lorenzo L., Hernandez, Edgar J., Webster, Gregory, Dellefave-Castillo, Lisa M., Russell, Mark W., Geisler, Sarah S., Kearns, Samuel D., Karthik, Felix, Etheridge, Susan P., Monroe, Tanner O., Pottinger, Tess D., Kannankeril, Prince J., Shoemaker, M. Benjamin, Fountain, Darlene, Roden, Dan M., Faulkner, Meghan, MacLeod, Heather M., Burns, Kristin M., Yandell, Mark, Tristani-Firouzi, Martin, George, Jr., Alfred L., and McNally, Elizabeth M.

Published
2024
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4. Hypertrophic Cardiomyopathy Secondary to RAF1 Cysteine-Rich Domain Variants

Author

Fullenkamp, Dominic E., primary, Jorgensen, Ryan M., additional, Leach, Desiree F., additional, Sinha, Arjun, additional, Salamone, Isabella M., additional, Johnston, Jamie R., additional, Dellefave-Castillo, Lisa M., additional, Choudhury, Lubna, additional, McNally, Elizabeth M., additional, and Wilsbacher, Lisa D., additional

Published
2023
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5. Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy

Author

Smith, Eric D., Lakdawala, Neal K., Papoutsidakis, Nikolaos, Aubert, Gregory, Mazzanti, Andrea, McCanta, Anthony C., Agarwal, Prachi P., Arscott, Patricia, Dellefave-Castillo, Lisa M., Vorovich, Esther E., Nutakki, Kavitha, Wilsbacher, Lisa D., Priori, Silvia G., Jacoby, Daniel L., McNally, Elizabeth M., and Helms, Adam S.

Published
2020
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6. The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young

Author

Puckelwartz, Megan J., primary, Pesce, Lorenzo L., additional, Hernandez, Edgar J., additional, Webster, Gregory, additional, Dellefave-Castillo, Lisa M., additional, Russell, Mark W., additional, Geisler, Sarah S., additional, Kearns, Samuel D., additional, Etheridge, Felix K, additional, Etheridge, Susan P., additional, Monroe, Tanner O., additional, Pottinger, Tess D., additional, Kannankeril, Prince J., additional, Shoemaker, M. Benjamin, additional, Fountain, Darlene, additional, Roden, Dan M., additional, MacLeod, Heather, additional, Burns, Kristin M., additional, Yandell, Mark, additional, Tristani-Firouzi, Martin, additional, George, Alfred L., additional, and McNally, Elizabeth M., additional

Published
2023
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7. Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing

Author

Dellefave-Castillo, Lisa M., primary, Cirino, Allison L., additional, Callis, Thomas E., additional, Esplin, Edward D., additional, Garcia, John, additional, Hatchell, Kathryn E., additional, Johnson, Britt, additional, Morales, Ana, additional, Regalado, Ellen, additional, Rojahn, Susan, additional, Vatta, Matteo, additional, Nussbaum, Robert L., additional, and McNally, Elizabeth M., additional

Published
2022
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8. Practitioners’ Confidence and Desires for Education in Cardiovascular and Sudden Cardiac Death Genetics

Author

Lopez Santibanez Jacome, Laura, primary, Dellefave‐Castillo, Lisa M., additional, Wicklund, Catherine A., additional, Scherr, Courtney L., additional, Duquette, Debra, additional, Webster, Gregory, additional, Smith, Maureen E., additional, Kalke, Kerstin, additional, Gordon, Adam S., additional, De Berg, Kristen, additional, McNally, Elizabeth M., additional, and Rasmussen‐Torvik, Laura J., additional

Published
2022
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9. Genomic Autopsy of Sudden Deaths in Young Individuals

Author

Webster, Gregory, primary, Puckelwartz, Megan J., additional, Pesce, Lorenzo L., additional, Dellefave-Castillo, Lisa M., additional, Vanoye, Carlos G., additional, Potet, Franck, additional, Page, Patrick, additional, Kearns, Samuel D., additional, Pottinger, Tess, additional, White, Steven, additional, Arunkumar, Ponni, additional, Olson, Rachael, additional, Kofman, Amber, additional, Ibrahim, Nora, additional, Ing, Alexander, additional, Brew, Casey, additional, Yap, Kai Lee, additional, Kadri, Sabah, additional, George, Alfred L., additional, and McNally, Elizabeth M., additional

Published
2021
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10. Mitochondrial cardiomyopathy and ventricular arrhythmias associated with biallelic variants inC1QBP

Author

Webster, Gregory, primary, Reynolds, Meredith, additional, Arva, Nicoleta C., additional, Dellefave‐Castillo, Lisa M., additional, McElligott, Hilary S., additional, Kofman, Amber, additional, Laboski, Aleksandra, additional, Magnetta, Defne, additional, George, Alfred L., additional, McNally, Elizabeth M., additional, and Puckelwartz, Megan J., additional

Published
2021
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11. Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy

Author

Puckelwartz, Megan J., primary, Pesce, Lorenzo L., additional, Dellefave‐Castillo, Lisa M., additional, Wheeler, Matthew T., additional, Pottinger, Tess D., additional, Robinson, Avery C., additional, Kearns, Samuel D., additional, Gacita, Anthony M., additional, Schoppen, Zachary J., additional, Pan, Wenyu, additional, Kim, Gene, additional, Wilcox, Jane E., additional, Anderson, Allen S., additional, Ashley, Euan A., additional, Day, Sharlene M., additional, Cappola, Thomas, additional, Dorn, Gerald W., additional, and McNally, Elizabeth M., additional

Published
2021
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14. Abstract 469: Genomic Context Predicts Dilated but Not Hypertrophic Cardiomyopathy

Author

Puckelwartz, Megan J, primary, Pesce, Lorenzo L, additional, Dellefave-Castillo, Lisa M, additional, Wheeler, Matthew T, additional, Pottinger, Tess D, additional, Robinson, Avery C, additional, Gacita, Anthony M, additional, Schoppen, Zachary J, additional, Pan, Wenyu, additional, Kim, Gene, additional, Wilcox, Jane E, additional, Anderson, Allen S, additional, Ashley, Euan A, additional, Day, Sharlene M, additional, Cappola, Thomas, additional, Dorn, Gerald W, additional, and McNally, Elizabeth M, additional

Published
2019
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20. Genetic counseling for the dystrophinopathies-Practice resource of the National Society of Genetic Counselors.

Author

Pickart AM, Martin AS, Gross BN, Dellefave-Castillo LM, McCallen LM, Nagaraj CB, Rippert AL, Schultz CP, Ulm EA, and Armstrong N

Abstract

The dystrophinopathies encompass the phenotypically variable forms of muscular dystrophy caused by pathogenic variants in the DMD gene. The dystrophinopathies include the most common inherited muscular dystrophy among 46,XY individuals, Duchenne muscular dystrophy, as well as Becker muscular dystrophy and other less common phenotypic variants. With increased access to and utilization of genetic testing in the diagnostic and carrier setting, genetic counselors and clinicians in diverse specialty areas may care for individuals with and carriers of dystrophinopathy. This practice resource was developed as a tool for genetic counselors and other health care professionals to support counseling regarding dystrophinopathies, including diagnosis, health risks and management, psychosocial needs, reproductive options, clinical trials, and treatment. Genetic testing efforts have enabled genotype/phenotype correlation in the dystrophinopathies, but have also revealed unexpected findings, further complicating genetic counseling for this group of conditions. Additionally, the therapeutic landscape for dystrophinopathies has dramatically changed with several FDA-approved therapeutics, an expansive research pathway, and numerous clinical trials. Genotype-phenotype correlations are especially complex and genetic counselors' unique skill sets are useful in exploring and explaining this to families. Given the recent advances in diagnostic testing and therapeutics related to dystrophinopathies, this practice resource is a timely update for genetic counselors and other healthcare professionals involved in the diagnosis and care of individuals with dystrophinopathies., (© 2024 National Society of Genetic Counselors.)

Published
2024
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21. The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.

Author

Puckelwartz MJ, Pesce LL, Hernandez EJ, Webster G, Dellefave-Castillo LM, Russell MW, Geisler SS, Kearns SD, Etheridge FK, Etheridge SP, Monroe TO, Pottinger TD, Kannankeril PJ, Shoemaker MB, Fountain D, Roden DM, MacLeod H, Burns KM, Yandell M, Tristani-Firouzi M, George AL, and McNally EM

Abstract

Background: Sudden unexpected death in children is a tragic event. Understanding the genetics of sudden death in the young (SDY) enables family counseling and cascade screening. The objective of this study was to characterize genetic variation in an SDY cohort using whole genome sequencing., Methods: The SDY Case Registry is a National Institutes of Health/Centers for Disease Control surveillance effort to discern the prevalence, causes, and risk factors for SDY. The SDY Case Registry prospectively collected clinical data and DNA biospecimens from SDY cases <20 years of age. SDY cases were collected from medical examiner and coroner offices spanning 13 US jurisdictions from 2015-2019. The cohort included 211 children (mean age 1 year; range 0-20 years), determined to have died suddenly and unexpectedly and in whom DNA biospecimens and next-of-kin consent were ascertained. A control cohort consisted of 211 randomly sampled, sex-and ancestry-matched individuals from the 1000 Genomes Project. Genetic variation was evaluated in epilepsy, cardiomyopathy and arrhythmia genes in the SDY and control cohorts. American College of Medical Genetics/Genomics guidelines were used to classify variants as pathogenic or likely pathogenic. Additionally, genetic variation predicted to be damaging was identified using a Bayesian-based artificial intelligence (AI) tool., Results: The SDY cohort was 42% European, 30% African, 17% Hispanic, and 11% with mixed ancestries, and 39% female. Six percent of the cohort was found to harbor a pathogenic or likely pathogenic genetic variant in an epilepsy, cardiomyopathy or arrhythmia gene. The genomes of SDY cases, but not controls, were enriched for rare, damaging variants in epilepsy, cardiomyopathy and arrhythmia-related genes. A greater number of rare epilepsy genetic variants correlated with younger age at death., Conclusions: While damaging cardiomyopathy and arrhythmia genes are recognized contributors to SDY, we also observed an enrichment in epilepsy-related genes in the SDY cohort, and a correlation between rare epilepsy variation and younger age at death. These findings emphasize the importance of considering epilepsy genes when evaluating SDY.

Published
2023
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