Search Results - "Hawley, Megan H."

Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies by Mazzarotto, Francesco, Hawley, Megan H., Beltrami, Matteo, Beekman, Leander, de Marvao, Antonio, McGurk, Kathryn A., Statton, Ben, Boschi, Beatrice, Girolami, Francesca, Roberts, Angharad M., Lodder, Elisabeth M., Allouba, Mona, Romeih, Soha, Aguib, Yasmine, Baksi, A. John, Pantazis, Antonis, Prasad, Sanjay K., Cerbai, Elisabetta, Yacoub, Magdi H., O’Regan, Declan P., Cook, Stuart A., Ware, James S., Funke, Birgit, Olivotto, Iacopo, Bezzina, Connie R., Barton, Paul J. R., Walsh, Roddy

“…Purpose To characterize the genetic architecture of left ventricular noncompaction (LVNC) and investigate the extent to which it may represent a distinct…”
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Do mesenchymal stromal cell infusions advance the understanding and treatment options of FLNA‐associated pulmonary disease? by Yonker, Lael M., Hawley, Megan H., Kinane, T. Bernard

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Recognizing genetic disease: A key aspect of pediatric pulmonary care by Yonker, Lael M., Hawley, Megan H., Moschovis, Peter P., Lu, Mengdi, Kinane, T. Bernard

“…Advancement in technology has improved recognition of genetic etiologies of disease, which has impacted diagnosis and management of rare disease patients in…”
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The future is here: Integrating genetics into the pediatric pulmonary clinic by Hawley, Megan H., Moschovis, Peter P., Lu, Mengdi, Kinane, T. Bernard, Yonker, Lael M.

“…Recognition of underlying genetic etiologies of disease is increasing at an exponential rate, likely due to greater access to and lower cost of genetic…”
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Case 28-2019: A 22-Year-Old Woman with Dyspnea and Chest Pain by Kremer, Ted M, Lindsay, Mark E, Kinane, T. Bernard, Hawley, Megan H, Little, Brent P, Mino-Kenudson, Mari

“…A 22-year-old woman with congenital heart disease and joint laxity presented to the hospital because of chest pain, cough, and dyspnea. When she was 2 months…”
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An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy by Hawley, Megan H., Almontashiri, Naif, Biesecker, Leslie G., Berger, Natalie, Chung, Wendy K., Garcia, John, Grebe, Theresa A., Kelly, Melissa A., Lebo, Matthew S., Macaya, Daniela, Mei, Hui, Platt, Julia, Richard, Gabi, Ryan, Ashley, Thomson, Kate L., Vatta, Matteo, Walsh, Roddy, Ware, James S., Wheeler, Matthew, Zouk, Hana, Mason‐Suares, Heather, Funke, Birgit

“…The ACMG/AMP variant classification framework was intended for highly penetrant Mendelian conditions. While it is appreciated that clinically relevant variants…”
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Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel by 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

“…Diagnostic laboratories gather phenotypic data through requisition forms, but there is no consensus as to which data are essential for variant interpretation…”
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Considerations for reporting variants in novel candidate genes identified during clinical genomic testing by Chong, Jessica X., Berger, Seth I., Baxter, Samantha, Hawley, Megan H., DiTroia, Stephanie, Alvarez, Raquel, Amin, Mutaz, Assimes, Themistocles, Auriga, Light, Bamshad, Mike, Behera, Sairam, Blankenmeister, Benjamin, Blue, Elizabeth, Bonner, Devon, Boone, Philip, Brand, Harrison, Chavez, Clarisa, Chen, Ziwei, Cui, Ya Allen, Currin, Sara, Daber, Robert, Dardas, Zain, Davis, Colleen, Dawood, Moez, Doddapaneni, Harsha, Duong, Nhat, Duyzend, Michael, Eichler, Evan, Emami, Sara, Fraser, Jamie, Fusaro, Vincent, Garcia, Brandon, Garimella, Kiran, Gifford, Casey, Goddard, Page, Gogarten, Stephanie, Gogate, Nikhita, Sousa, Rodrigo Guarischi, Gudmundsson, Sanna, Gulati, Ashima, Hall, Stacey, Harvey, William, Horike-Pyne, Martha, Hu, Jianhong, Saad, Ahmed K., Knoblach, Susan, Ko, Arthur, Kundaje, Anshul, Kundu, Soumya, Larsson, Katie, Lemire, Gabrielle, Li, Yidan, LoTempio, Jonathan, Ma, Jialan, Mahmoud, Medhat, Malani, Nirav, Mangilog, Brian, Martinez, Eva, Mastrorosa, Francesco Kumara, Matalon, Dena, May, Susanne, Meador, Lauren, Mitani, Tadahiro, Montgomery, Stephen, Moyses, Mariana, Munderloh, Chloe, Muzny, Donna, Nykamp, Keith, O'Callaghan, William, Pan, Miao, Panchal, Piyush, Payne, Sheryl, Petrowski, Paul, Porter, Elizabeth, Prosser, Jaime, Quertermous, Thomas, Rai, Archana, Rivera-Munoz, Andres, Sabo, Aniko, Samocha, Kaitlin, Savage, Sarah, Shah, Gulalai, Singh, Mugdha, Smith, Kevin, Smith, Josh, Starita, Lea, Stenton, Sarah, Stilp, Adrienne, Sutton, V. Reid, Tong, Catherine (Cat), Tsao, Philip, Ungar, Rachel, Vilain, Eric, Wei, Chia-Lin, Weisburd, Ben, Wellington, Chris, Westheimer, Emily, Wheeler, Marsha, Wojcik, Monica, Yadav, Rachita

“…Since the first novel gene discovery for a Mendelian condition was made via exome sequencing, the rapid increase in the number of genes known to underlie…”
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An assessment of the role of loss of function Vinculin (VCL) variants in inherited cardiomyopathy by Hawley, Megan H., Almontashiri, Naif, Biesecker, Leslie G., Berger, Natalie, Chung, Wendy K., Garcia, John, Grebe, Theresa A., Kelly, Melissa A., Lebo, Matthew S., Macaya, Daniela, Mei, Hui, Platt, Julia, Richard, Gabi, Ryan, Ashley, Thomson, Kate L., Vatta, Matteo, Walsh, Roddy, Ware, James S., Wheeler, Matthew, Zouk, Hana, Mason-Suares, Heather, Funke, Birgit

“…The ACMG/AMP variant classification framework was intended for highly penetrant Mendelian conditions. While it is appreciated that clinically relevant variants…”
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Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM) by 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

“…Diagnostic laboratories gather phenotypic data through requisition forms, but there is no consensus as to which data are essential for variant interpretation…”
Get full text