Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource
Strande, Natasha T., Riggs, Erin Rooney, Buchanan, Adam H., Ceyhan-Birsoy, Ozge, DiStefano, Marina, Dwight, Selina S., Goldstein, Jenny, Ghosh, Rajarshi, Seifert, Bryce A., Sneddon, Tam P., Wright, Matt W., Milko, Laura V., Cherry, J. Michael, Giovanni, Monica A., Murray, Michael F., O’Daniel, Julianne M., Ramos, Erin M., Santani, Avni B., Scott, Alan F., Plon, Sharon E., Rehm, Heidi L., Martin, Christa L., Berg, Jonathan S.
Published in American journal of human genetics (01.06.2017)
Published in American journal of human genetics (01.06.2017)
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Journal Article
Genetic identification of familial hypercholesterolemia within a single U.S. health care system
Abul-Husn, Noura S., Manickam, Kandamurugu, Jones, Laney K., Wright, Eric A., Hartzel, Dustin N., Gonzaga-Jauregui, Claudia, O'Dushlaine, Colm, Leader, Joseph B., Kirchner, H. Lester, Lindbuchler, D'Andra M., Barr, Marci L., Giovanni, Monica A., Ritchie, Marylyn D., Overton, John D., Reid, Jeffrey G., Metpally, Raghu P. R., Wardeh, Amr H., Borecki, Ingrid B., Yancopoulos, George D., Baras, Aris, Shuldiner, Alan R., Gottesman, Omri, Ledbetter, David H., Carey, David J., Dewey, Frederick E., Murray, Michael F.
Published in Science (American Association for the Advancement of Science) (23.12.2016)
Published in Science (American Association for the Advancement of Science) (23.12.2016)
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Journal Article
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
Coste, Bertrand, Houge, Gunnar, Murray, Michael F., Stitziel, Nathan, Bandell, Michael, Giovanni, Monica A., Philippakis, Anthony, Hoischen, Alexander, Riemer, Gunnar, Steen, Unni, Steen, Vidar Martin, Mathur, Jayanti, Cox, James, Lebo, Matthew, Rehm, Heidi, Weiss, Scott T., Wood, John N., Maas, Richard L., Sunyaev, Shamil R., Patapoutian, Ardem
Published in Proceedings of the National Academy of Sciences - PNAS (19.03.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (19.03.2013)
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Journal Article
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants
Manickam, Kandamurugu, Buchanan, Adam H, Schwartz, Marci L B, Hallquist, Miranda L G, Williams, Janet L, Rahm, Alanna Kulchak, Rocha, Heather, Savatt, Juliann M, Evans, Alyson E, Butry, Loren M, Lazzeri, Amanda L, Lindbuchler, D'Andra M, Flansburg, Carroll N, Leeming, Rosemary, Vogel, Victor G, Lebo, Matthew S, Mason-Suares, Heather M, Hoskinson, Derick C, Abul-Husn, Noura S, Dewey, Frederick E, Overton, John D, Reid, Jeffrey G, Baras, Aris, Willard, Huntington F, McCormick, Cara Z, Krishnamurthy, Sarath B, Hartzel, Dustin N, Kost, Korey A, Lavage, Daniel R, Sturm, Amy C, Frisbie, Lauren R, Person, T Nate, Metpally, Raghu P, Giovanni, Monica A, Lowry, Lacy E, Leader, Joseph B, Ritchie, Marylyn D, Carey, David J, Justice, Anne E, Kirchner, H Lester, Faucett, W Andrew, Williams, Marc S, Ledbetter, David H, Murray, Michael F
Published in JAMA network open (07.09.2018)
Published in JAMA network open (07.09.2018)
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Journal Article
DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)
Murray, Michael F., Giovanni, Monica A., Doyle, Debra L., Harrison, Steven M., Lyon, Elaine, Manickam, Kandamurugu, Monaghan, Kristin G., Rasmussen, Sonja A., Scheuner, Maren T., Palomaki, Glenn E., Watson, Michael S.
Published in Genetics in medicine (01.06.2021)
Published in Genetics in medicine (01.06.2021)
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Journal Article
A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort
Schwartz, Marci L.B., McCormick, Cara Zayac, Lazzeri, Amanda L., Lindbuchler, D’Andra M., Hallquist, Miranda L.G., Manickam, Kandamurugu, Buchanan, Adam H., Rahm, Alanna Kulchak, Giovanni, Monica A., Frisbie, Lauren, Flansburg, Carroll N., Davis, F. Daniel, Sturm, Amy C., Nicastro, Christine, Lebo, Matthew S., Mason-Suares, Heather, Mahanta, Lisa Marie, Carey, David J., Williams, Janet L., Williams, Marc S., Ledbetter, David H., Faucett, W. Andrew, Murray, Michael F.
Published in American journal of human genetics (06.09.2018)
Published in American journal of human genetics (06.09.2018)
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Journal Article
COVID-19 outcomes and the human genome
Murray, Michael F, Kenny, Eimear E, Ritchie, Marylyn D, Rader, Daniel J, Bale, Allen E, Giovanni, Monica A, Abul-Husn, Noura S
Published in Genetics in medicine (01.07.2020)
Published in Genetics in medicine (01.07.2020)
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Journal Article
Risks of Presymptomatic Direct-to-Consumer Genetic Testing
Annes, Justin P, Giovanni, Monica A, Murray, Michael F
Published in The New England journal of medicine (16.09.2010)
Published in The New England journal of medicine (16.09.2010)
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Journal Article
Obtaining a Genetic Family History Using Computer-Based Tools
Li, Weilong, Murray, Michael F, Giovanni, Monica A
Published in Current protocols in human genetics (01.01.2019)
Published in Current protocols in human genetics (01.01.2019)
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Journal Article
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
Beggs, Alan H, Yu, Timothy W, DeChene, Elizabeth T, Towne, Meghan C, Price, Emily N, Luquette, Lovelace J, Lyon, Elaine, Majzoub, Joseph, Neupert, Peter, Szolovits, Peter, Temme, Renee, Medne, Livija, Cassa, Christopher A, Duzkale, Hatice, Fairbrother, William, Francioli, Laurent, Funke, Birgit H, Lage, Kasper, Lebo, Matthew S, Leshchiner, Ignaty, McLaughlin, Heather M, Murray, Michael F, Polak, Paz P, Raychaudhuri, Soumya, Rehm, Heidi L, Stitziel, Nathan O, Vestecka, Sara, Supper, Jochen, Gugenmus, Claudia, Klocke, Bernward, Hahn, Alexander, Schubach, Max, Menzel, Mortiz, Biskup, Saskia, Freisinger, Peter, Sheffield, Val C, Stone, Edwin M, Bair, Thomas, Braun, Terry A, Darbro, Benjamin, Edens, Erik, Shchelochkov, Oleg A, Heusel, Jonathan W, Maga, Tara, Panzer, Karin, Azaiez, Hela, Booth, Kevin, Meyer, Nic, Tromp, Gerard, Corsmeier, Donald, Herman, Gail, McBride, Kim L, Rakowsky, Alexander T, Maver, Aleš, Lovrečić, Luca, Magnusson, Måns, Nilsson, Daniel, Stranneheim, Henrik, Gilissen, Christian, Hoischen, Alexander, van Bon, Bregje, Zhang, Weidong, Sager, Jason, Zhang, Lu, Blair, Kathryn, Kural, Deniz, Javed, Asif, Sandhu, Komal S, Veeramachaneni, Vamsi, Isakov, Ofer, Friedman, Eitan, Shomron, Noam, Glusman, Gustavo, Roach, Jared C, Caballero, Juan, Mauldin, Denise, Rowen, Lee, Richards, Daniel R, San Lucas, F Anthony, Gonzalez-Garay, Manuel L, Caskey, C Thomas, Bai, Yu, Huang, Ying, Fang, Fang, Zhang, Yan, Barrera, Jorge, Rodriguez, Maria C, De La Vega, Francisco M, Cargill, Michele, Lyon, Gholson J, Yandell, Mark, Hou, Lin, Yan, Xiting, Yang, Can, Gunel, Murat, Alexander, Austin C, Boycott, Kym M, Bulman, Dennis E, Sawyer, Sarah L, Margulies, David M
Published in Genome Biology (01.01.2014)
Published in Genome Biology (01.01.2014)
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Journal Article
Comparing Electronic Health Record Portals to Obtain Patient-Entered Family Health History in Primary Care
Murray, Michael F., Giovanni, Monica A., Klinger, Elissa, George, Elise, Marinacci, Lucas, Getty, George, Brawarsky, Phyllis, Rocha, Beatriz, Orav, E. John, Bates, David W., Haas, Jennifer S.
Published in Journal of general internal medicine : JGIM (01.12.2013)
Published in Journal of general internal medicine : JGIM (01.12.2013)
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Journal Article
Recurrent HERV-H-Mediated 3q13.2-q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays
Shuvarikov, Andrey, Campbell, Ian M., Dittwald, Piotr, Neill, Nicholas J., Bialer, Martin G., Moore, Christine, Wheeler, Patricia G., Wallace, Stephanie E., Hannibal, Mark C., Murray, Michael F., Giovanni, Monica A., Terespolsky, Deborah, Sodhi, Sandi, Cassina, Matteo, Viskochil, David, Moghaddam, Billur, Herman, Kristin, Brown, Chester W., Beck, Christine R., Gambin, Anna, Cheung, Sau Wai, Patel, Ankita, Lamb, Allen N., Shaffer, Lisa G., Ellison, Jay W., Ravnan, J. Britt, Stankiewicz, Paweł, Rosenfeld, Jill A.
Published in Human mutation (01.10.2013)
Published in Human mutation (01.10.2013)
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Journal Article
Recurrent HERV-H-Mediated 3q13.2q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays
Shuvarikov, Andrey, Campbell, Ian M., Dittwald, Piotr, Neill, Nicholas J., Bialer, Martin G., Moore, Christine, Wheeler, Patricia G., Wallace, Stephanie E., Hannibal, Mark C., Murray, Michael F., Giovanni, Monica A., Terespolsky, Deborah, Sodhi, Sandi, Cassina, Matteo, Viskochil, David, Moghaddam, Billur, Herman, Kristin, Brown, Chester, Gambin, Anna, Cheung, Sau Wai, Patel, Ankita, Lamb, Allen N., Shaffer, Lisa G., Ellison, Jay W., Ravnan, J. Britt, Stankiewicz, Paweł, Rosenfeld, Jill A.
Published in Human mutation (13.08.2013)
Published in Human mutation (13.08.2013)
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Journal Article
A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort
Barr Schwartz, Marci Lynn, Cara Zayac Mccormick, Lazzeri, Amanda L, Lindbuchler, D'andra M, Hallquist, Miranda L G, Manickam, Kandamurugu, Buchanan, Adam H, Rahm, Alanna Kulchak, Giovanni, Monica A, Frisbie, Lauren, Flansburg, Carroll N, Davis, F Daniel, Sturm, Amy C, Nicastro, Christine, Lebo, Matthew S, Mason-Suares, Heather, Mahanta, Lisa Marie, Carey, David J, Williams, Janet L, Williams, Marc S, Ledbetter, David H, Faucett, W Andrew, Murray, Michael F
Published in bioRxiv (03.08.2017)
Published in bioRxiv (03.08.2017)
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