检索结果 - Melissa Kelly
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Inherited Cardiomyopathies 由 Polakit Teekakirikul, Melissa Kelly, Heidi L. Rehm, Neal K. Lakdawala, Birgit H. Funke
出版 2012Revisão -
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How low can you go? Titrating the lowest effective dose of cyproterone acetate for transgender and gender diverse people who request feminizing hormones 由 Sarah Warzywoda, James A. Fowler, Penny Wood, Fiona Bisshop, Darren Russell, Hemming Luu, Melissa Kelly, Victoria Featherstone, Judith Dean
出版 2024Artigo -
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Mcl-1 Is a Key Regulator of Apoptosis during CNS Development and after DNA Damage 由 Nicole Arbour, Jacqueline L. Vanderluit, Jaclyn Nicole Le Grand, Arezu Jahani‐Asl, Vladimir Ruzhynsky, Eric C. Cheung, Melissa Kelly, Alex MacKenzie, David S. Park, Joseph T. Opferman, Ruth S. Slack
出版 2008Artigo -
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The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing 由 Trevor J. Pugh, Melissa Kelly, Sivakumar Gowrisankar, Elizabeth Hynes, Michael A. Seidman, Samantha Baxter, Mark Bowser, Bryan D. Harrison, Daniel Aaron, Lisa Mahanta, Neal K. Lakdawala, Gregory McDermott, Emily White, Heidi L. Rehm, Matthew S. Lebo, Birgit Funke
出版 2014Artigo -
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Genomic Screening at a Single Health System 由 Juliann M. Savatt, Melissa Kelly, Amy C. Sturm, Cara Z. McCormick, Marc S. Williams, Michelle Pistner Nixon, David D.K. Rolston, Natasha T. Strande, Karen E. Wain, Huntington F. Willard, W. Andrew Faucett, David H. Ledbetter, Adam H. Buchanan, Alastair J. Martin
出版 2025Artigo -
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Prevalence and Electronic Health Record-Based Phenotype of Loss-of-Function Genetic Variants in Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Genes 由 Eric Carruth, W. Glenn Young, Dominik Beer, Cynthia A. James, Hugh Calkins, Linyuan Jing, Sushravya Raghunath, Dustin N. Hartzel, Joseph B. Leader, H. Lester Kirchner, Diane T. Smelser, David J. Carey, Melissa Kelly, Amy C. Sturm, Amro Alsaid, Brandon K. Fornwalt, Christopher M. Haggerty
出版 2019Artigo -
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Clinical outcomes of a genomic screening program for actionable genetic conditions 由 Adam H. Buchanan, H. Lester Kirchner, M. Schwartz, Melissa Kelly, Tara Schmidlen, Laney K. Jones, Miranda L. G. Hallquist, Heather Rocha, Megan Betts, Rachel Schwiter, Loren Butry, Amanda L. Lazzeri, Lauren R. Frisbie, Alanna Kulchak Rahm, Jing Hao, Huntington F. Willard, Christa Lese Martin, David H. Ledbetter, Marc S. Williams, Amy C. Sturm
出版 2020Artigo -
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Activating<i>RAC1</i>variants in the switch II region cause a developmental syndrome and alter neuronal morphology 由 Siddharth Banka, Abigail Bennington, Martin J. Baker, Ellen Rijckmans, Giuliana Clemente, Nurhuda Mohamad Ansor, Hilary Sito, P. Phaniram Prasad, Kwame Anyane‐Yeboa, Lauren Badalato, Boyan Dimitrov, David Fitzpatrick, Anna Hurst, Anna Jansen, Melissa Kelly, Ian D. Krantz, Claudine Rieubland, Meredith J. Ross, Natasha L. Rudy, Javier Sanz, Katrien Stouffs, Zhuo Luan Xu, Angeliki Malliri, Marcelo G. Kazanietz, Tom H. Millard
出版 2022Artigo -
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Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Exp... 由 Melissa Kelly, Colleen Caleshu, Ana Morales, Jillian G. Buchan, Zena Wolf, Steven M. Harrison, Stuart A. Cook, Mitchell W. Dillon, John Garcia, Eden Haverfield, Jan D.H. Jongbloed, Daniela Macaya, Arjun K. Manrai, Kate M. Orland, Gabriele Richard, Katherine G. Spoonamore, Matthew Thomas, Kate Thomson, Lisa M. Vincent, Roddy Walsh, Hugh Watkins, Nicola Whiffin, Jodie Ingles, J. Peter van Tintelen, Christopher Semsarian, James S. Ware, Ray E. Hershberger, Birgit Funke
出版 2018Artigo -
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Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis 由 Gemme Campbell‐Salome, Laney K. Jones, Max Masnick, Nephi Walton, Catherine D. Ahmed, Adam H. Buchanan, Andrew Brangan, Edward D. Esplin, David Kann, Ilene Ladd, Melissa Kelly, Iris Kindt, H. Lester Kirchner, Mary P. McGowan, Megan McMinn, Ana Morales, Kelly D. Myers, Matthew T. Oetjens, Alanna Kulchak Rahm, Tara Schmidlen, Amanda Sheldon, Emilie Simmons, Moran Snir, Natasha T. Strande, Nicole L. Walters, Katherine Wilemon, Marc S. Williams, Samuel S. Gidding, Amy C. Sturm
出版 2021Artigo -
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Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants 由 Christopher M. Haggerty, Scott M. Damrauer, Michael G. Levin, David Birtwell, David J. Carey, Alicia Golden, Dustin N. Hartzel, Yirui Hu, Renae Judy, Melissa Kelly, Rachel L. Kember, H. Lester Kirchner, Joseph B. Leader, Lusha W. Liang, Chris McDermott‐Roe, Apoorva Babu, Michael P. Morley, Zachariah Nealy, Thomas N. Person, Arichanah Pulenthiran, Aeron Small, Diane T. Smelser, Richard C. Stahl, Amy C. Sturm, Heather Williams, Aris Baras, Kenneth B. Margulies, Thomas P. Cappola, Frederick E. Dewey, Anurag Verma, Xinyuan Zhang, Adolfo Correa, Michael E. Hall, James Wilson, Marylyn D. Ritchie, Daniel J. Rader, Michael F. Murray, Brandon K. Fornwalt, Zoltàn Arany
出版 2019Artigo -
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The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change 由 Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya, Pınar Bayrak‐Toydemir, Hunter Best, Rhonda Brandon, Jillian G. Buchan, Elizabeth Chao, Elaine Chen, Jacob Clifford, Ana S.A. Cohen, Laura K. Conlin, Soma Das, Kyle Davis, Daniela del Gaudio, Florencia Del Viso, Christina DiVincenzo, Marcia Eisenberg, Lucia Guidugli, Monia Hammer, Steven M. Harrison, Kathryn E. Hatchell, Lindsay Havens Dyer, Lily Hoang, James Holt, Vaidehi Jobanputra, Izabela Karbassi, Hutton M. Kearney, Melissa Kelly, Jacob M. Kelly, Michelle L. Kluge, Timothy Komala, Paul Kruszka, Lynette Lau, Matthew S. Lebo, Christian R. Marshall, Dianalee McKnight, Kirsty McWalter, Yan Meng, Narasimhan Nagan, Christian S. Neckelmann, Nir Neerman, Zhiyv Niu, Vitoria Paolillo, Sarah A Paolucci, Denise Perry, Tina Pesaran, Kelly Radtke, Kristen Rasmussen, Kyle Retterer, Carol Saunders, Elizabeth Spiteri, Christine M. Stanley, Anna Szuto, Ryan J. Taft, Isabelle Thiffault, Brittany C. Thomas, Amanda Thomas‐Wilson, Erin Thorpe, Timothy Tidwell, Meghan C. Towne, Hana Zouk, Christian Marshall, Linyan Meng, Vaidehi Jobanputra, Ryan J. Taft, Euan A. Ashley, Ghunwa Nakouzi, Wei Shen, Stephen F. Kingsmore, Heidi L. Rehm
出版 2023Artigo
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