The Role of a Statewide Critical Care Coordination Center in the Coronavirus Disease 2019 Pandemic—and Beyond

por Galvagno, Samuel M., Naumann, Andrew, Delbridge, Theodore R., Kelly, Melissa A., Scalea, Thomas M.
Publicado 2021

Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy

por McLaughlin, Heather M, Kelly, Melissa A, Hawley, Pamela P, Darras, Basil T, Funke, Birgit, Picker, Jonathan
Publicado 2013

Diagnostic validity and clinical utility of genetic testing for hypertrophic cardiomyopathy: a systematic review and meta-analysis

por Christian, Susan, Cirino, Allison, Hansen, Brittany, Harris, Stephanie, Murad, Andrea M, Natoli, Jaime L, Malinowski, Jennifer, Kelly, Melissa A
Publicado 2022

Genomic Screening for Pathogenic Transthyretin Variants Finds Evidence of Underdiagnosed Amyloid Cardiomyopathy From Health Records

por Carry, Brendan J., Young, Katelyn, Fielden, Samuel, Kelly, Melissa A., Sturm, Amy C., Avila, J. David, Martin, Christa L., Kirchner, H. Lester, Fornwalt, Brandon K., Haggerty, Christopher M.
Publicado 2021

Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort

por Savatt, Juliann M., Ortiz, Nicole M., Thone, Gretchen M., McDonald, Whitney S., Kelly, Melissa A., Berry, Alexander S. F., Alvi, Madiha M., Hallquist, Miranda L. G., Malinowski, Jennifer, Purdy, Nicholas C., Williams, Marc S., Sturm, Amy C., Buchanan, Adam H.
Publicado 2022

Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing

por Bowling, Kevin M., Thompson, Michelle L., Kelly, Melissa A., Scollon, Sarah, Slavotinek, Anne M., Powell, Bradford C., Kirmse, Brian M., Hendon, Laura G., Brothers, Kyle B., Korf, Bruce R., Cooper, Gregory M., Greally, John M., Hurst, Anna C. E.
Publicado 2022

Yield of Familial Hypercholesterolemia Genetic and Phenotypic Diagnoses After Electronic Health Record and Genomic Data Screening

por Gidding, Samuel S., Kirchner, H. Lester, Brangan, Andrew, Howard, William, Kelly, Melissa A., Myers, Kelly D., Morgan, Kelly M., Oetjens, Matthew T., Shuey, Timothy C., Staszak, David, Strande, Natasha T., Walters, Nicole L., Yu, Kristen D., Wilemon, Katherine A., Williams, Marc S., Sturm, Amy C., Jones, Laney K.
Publicado 2023

Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric...

por Savatt, Juliann M., Wagner, Jennifer K., Joffe, Steven, Rahm, Alanna Kulchak, Williams, Marc S., Bradbury, Angela R., Davis, F. Daniel, Hergenrather, Julie, Hu, Yirui, Kelly, Melissa A., Kirchner, H. Lester, Meyer, Michelle N., Mozersky, Jessica, O’Dell, Sean M., Pervola, Josie, Seeley, Andrea, Sturm, Amy C., Buchanan, Adam H.
Publicado 2020

Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing

por Felker, Stephanie A, Lawlor, James MJ, Hiatt, Susan M, Thompson, Michelle L, Latner, Donald R, Finnila, Candice R, Bowling, Kevin M, Bonnstetter, Zachary T, Bonini, Katherine E, Kelly, Nicole R, Kelley, Whitley V, Hurst, Anna CE, Kelly, Melissa A, Nakouzi, Ghunwa, Hendon, Laura G, Bebin, E Martina, Kenny, Eimear E, Cooper, Gregory M
Publicado 2023

Clinical outcomes of a genomic screening program for actionable genetic conditions

por Buchanan, Adam H., Lester Kirchner, H., Schwartz, Marci L. B., Kelly, Melissa A., Schmidlen, Tara, Jones, Laney K., Hallquist, Miranda L. G., Rocha, Heather, Betts, Megan, Schwiter, Rachel, Butry, Loren, Lazzeri, Amanda L., Frisbie, Lauren R., Rahm, Alanna Kulchak, Hao, Jing, Willard, Huntington F., Martin, Christa L., Ledbetter, David H., Williams, Marc S., Sturm, Amy C.
Publicado 2020

Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology

por Banka, Siddharth, Bennington, Abigail, Baker, Martin J, Rijckmans, Ellen, Clemente, Giuliana D, Ansor, Nurhuda Mohamad, Sito, Hilary, Prasad, Pritha, Anyane-Yeboa, Kwame, Badalato, Lauren, Dimitrov, Boyan, Fitzpatrick, David, Hurst, Anna C E, Jansen, Anna C, Kelly, Melissa A, Krantz, Ian, Rieubland, Claudine, Ross, Meredith, Rudy, Natasha L, Sanz, Javier, Stouffs, Katrien, Xu, Zhuo Luan, Malliri, Angeliki, Kazanietz, Marcelo G, Millard, Tom H
Publicado 2022

Genetic Sex Validation for Sample Tracking in Clinical Testing

por Hu, Jianhong, Korchina, Viktoriya, Zouk, Hana, Harden, Maegan V., Murdock, David, Macbeth, Alyssa, Harrison, Steven M., Lennon, Niall, Kovar, Christie, Balasubramanian, Adithya, Zhang, Lan, Chandanavelli, Gauthami, Pasham, Divya, Rowley, Robb, Wiley, Ken, Smith, Maureen E., Gordon, Adam, Jarvik, Gail P., Sleiman, Patrick, Kelly, Melissa A, Bland, Harris T., Murugan, Mullai, Venner, Eric, Boerwinkle, Eric, Prows, Cynthia, Mahanta, Lisa, Rehm, Heidi L., Gibbs, Richard A., Muzny, Donna M.
Publicado 2023

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Exp...

por Kelly, Melissa A, Caleshu, Colleen, Morales, Ana, Buchan, Jillian, Wolf, Zena, Harrison, Steven M, Cook, Stuart, Dillon, Mitchell W, Garcia, John, Haverfield, Eden, Jongbloed, Jan D H, Macaya, Daniela, Manrai, Arjun, Orland, Kate, Richard, Gabriele, Spoonamore, Katherine, Thomas, Matthew, Thomson, Kate, Vincent, Lisa M, Walsh, Roddy, Watkins, Hugh, Whiffin, Nicola, Ingles, Jodie, van Tintelen, J Peter, Semsarian, Christopher, Ware, James S, Hershberger, Ray, Funke, Birgit
Publicado 2018

Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Ca...

por Morales, Ana, Ing, Alexander, Antolik, Christian, Austin-Tse, Christina, Baudhuin, Linnea M., Bronicki, Lucas, Cirino, Allison, Hawley, Megan H., Fietz, Michael, Garcia, John, Ho, Carolyn, Ingles, Jodie, Jarinova, Olga, Johnston, Tami, Kelly, Melissa A., Kurtz, C. Lisa, Lebo, Matt, Macaya, Daniela, Mahanta, Lisa, Maleszewski, Joseph, Manrai, Arjun K., Murray, Mitzi, Richard, Gabriele, Semsarian, Chris, Thomson, Kate L., Winder, Tom, Ware, James S., Hershberger, Ray E., Funke, Birgit H., Vatta, Matteo
Publicado 2021

Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis: Identification Methods, Patient Activation, and Cascade Testing for Familial Hyp...

por Campbell-Salome, Gemme, Jones, Laney K., Masnick, Max F., Walton, Nephi A., Ahmed, Catherine D., Buchanan, Adam H., Brangan, Andrew, Esplin, Edward D., Kann, David G., Ladd, Ilene G., Kelly, Melissa A., Kindt, Iris, Kirchner, H. Lester, McGowan, Mary P., McMinn, Megan N., Morales, Ana, Myers, Kelly D., Oetjens, Matthew T., Rahm, Alanna Kulchak, Schmidlen, Tara J., Sheldon, Amanda, Simmons, Emilie, Snir, Moran, Strande, Natasha T., Walters, Nicole L., Wilemon, Katherine, Williams, Marc S., Gidding, Samuel S., Sturm, Amy C.
Publicado 2021

Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy

por Dries, Annika M., Kirillova, Anna, Reuter, Chloe M., Garcia, John, Zouk, Hana, Hawley, Megan, Murray, Brittney, Tichnell, Crystal, Pilichou, Kalliopi, Protonotarios, Alexandros, Medeiros-Domingo, Argelia, Kelly, Melissa A., Baras, Aris, Ingles, Jodie, Semsarian, Christopher, Bauce, Barbara, Celeghin, Rudy, Basso, Cristina, Jongbloed, Jan D. H., Nussbaum, Robert L., Funke, Birgit, Cerrone, Marina, Mestroni, Luisa, Taylor, Matthew R. G., Sinagra, Gianfranco, Merlo, Marco, Saguner, Ardan M., Elliott, Perry M., Syrris, Petros, van Tintelen, J. Peter, James, Cynthia A., Haggerty, Christopher M., Parikh, Victoria N.
Publicado 2021

The genetic architecture of Plakophilin 2 cardiomyopathy

por Dries, Annika M., Kirillova, Anna, Reuter, Chloe M., Garcia, John, Zouk, Hana, Hawley, Megan, Murray, Brittney, Tichnell, Crystal, Pilichou, Kalliopi, Protonotarios, Alexandros, Medeiros-Domingo, Argelia, Kelly, Melissa A., Baras, Aris, Ingles, Jodie, Semsarian, Christopher, Bauce, Barbara, Celeghin, Rudy, Basso, Cristina, Jongbloed, Jan D. H., Nussbaum, Robert L., Funke, Birgit, Cerrone, Marina, Mestroni, Luisa, Taylor, Matthew R. G., Sinagra, Gianfranco, Merlo, Marco, Saguner, Ardan M., Elliott, Perry M., Syrris, Petros, van Tintelen, J. Peter, James, Cynthia A., Haggerty, Christopher M., Parikh, Victoria N.
Publicado 2021

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

por Gonzaga-Jauregui, Claudia, Yesil, Gozde, Nistala, Harikiran, Gezdirici, Alper, Bayram, Yavuz, Nannuru, Kalyan C., Pehlivan, Davut, Yuan, Bo, Jimenez, Johanna, Sahin, Yavuz, Paine, Ingrid S., Akdemir, Zeynep Coban, Rajamani, Saathyaki, Staples, Jeffrey, Dronzek, John, Howell, Kristen, Fatih, Jawid M., Smaldone, Silvia, Schlesinger, Alan E., Ramírez, Norman, Cornier, Alberto S., Kelly, Melissa A., Haber, Robert, Chim, Shek Man, Nieman, Kristy, Wu, Nan, Walls, Johnathon, Poueymirou, William, Siao, Chia-Jen, Sutton, V. Reid, Williams, Marc S., Posey, Jennifer E., Gibbs, Richard A., Carlo, Simon, Tegay, David H., Economides, Aris N., Lupski, James R.
Publicado 2020