المؤلفون: Machini, Kalotina, Hao, Limin, Zook, Hana, Mahanta, Lisa, Mason-Suares, Heather, Nagy, Anna, Rehm, Heidi, Amr, Sami, Lebo, Matthew

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100551 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100551
https://api.elsevier.com/content/article/PII:S2949774423005514?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774423005514?httpAccept=text/plain

المؤلفون: Nagy, Anna, Mysen, Eugene, Sun, Chungming Glendy, Mahanta, Lisa, Zettler, Bethany, Beggs, Alan, Holm, Ingrid, Green, Robert, Lebo, Matthew, Zouk, Hana

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100564 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100564
https://api.elsevier.com/content/article/PII:S2949774423005642?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774423005642?httpAccept=text/plain

المؤلفون: Zouk, Hana, Yu, Wanfeng, Oza, Andrea, Hawley, Megan, Vijay Kumar, Prathik K., Koch, Christopher, Mahanta, Lisa M., Harley, John B., Jarvik, Gail P., Karlson, Elizabeth W., Leppig, Kathleen A., Myers, Melanie F., Prows, Cynthia A., Williams, Marc S., Weiss, Scott T., Lebo, Matthew S., Rehm, Heidi L.

المصدر: Genetics in Medicine ; volume 24, issue 2, page 454-462 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2021.10.010
https://api.elsevier.com/content/article/PII:S1098360021053600?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021053600?httpAccept=text/plain

المؤلفون: 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

المساهمون: Medical and Molecular Genetics, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Hypertrophic cardiomyopathy, Genetic testing, Genetic variation, Genomics, Human genome, Phenotype

وصف الملف: application/pdf

Relation: The Journal of Molecular Diagnostics; Morales A, Ing A, Antolik C, et al. 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. J Mol Diagn. 2021;23(5):589-598. doi:10.1016/j.jmoldx.2021.01.014; https://hdl.handle.net/1805/32255

الاتاحة: https://hdl.handle.net/1805/32255

المؤلفون: Blout Zawatsky, Carrie L., Shah, Nidhi, Machini, Kalotina, Perez, Emma, Christensen, Kurt D., Zouk, Hana, Steeves, Marcie, Koch, Christopher, Uveges, Melissa, Shea, Janelle, Gold, Nina, Krier, Joel, Boutin, Natalie, Mahanta, Lisa, Rehm, Heidi L., Weiss, Scott T., Karlson, Elizabeth W., Smoller, Jordan W., Lebo, Matthew S., Green, Robert C.

المساهمون: National Institutes of Health, National Institute of Health

المصدر: The American Journal of Human Genetics ; volume 108, issue 12, page 2224-2237 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2021.10.005
https://api.elsevier.com/content/article/PII:S0002929721003827?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929721003827?httpAccept=text/plain

المؤلفون: Brockman, Deanna G., Austin-Tse, Christina A., Pelletier, Renée C., Harley, Caroline, Patterson, Candace, Head, Holly, Leonard, Courtney Elizabeth, O’Brien, Kimberly, Mahanta, Lisa M., Lebo, Matthew S., Lu, Christine Y., Natarajan, Pradeep, Khera, Amit V., Aragam, Krishna G., Kathiresan, Sekar, Rehm, Heidi L., Udler, Miriam S.

المساهمون: Massachusetts General Hospital

المصدر: Genetics in Medicine ; volume 23, issue 9, page 1689-1696 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-021-01193-y
https://www.nature.com/articles/s41436-021-01193-y.pdf
https://www.nature.com/articles/s41436-021-01193-y
https://api.elsevier.com/content/article/PII:S1098360021050966?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021050966?httpAccept=text/plain

المؤلفون: 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

المساهمون: National Human Genome Research Institute, Eunice Kennedy Shriver National Institute of Child Health and Human Development, MyoKardia

المصدر: The Journal of Molecular Diagnostics ; volume 23, issue 5, page 589-598 ; ISSN 1525-1578

الاتاحة: http://dx.doi.org/10.1016/j.jmoldx.2021.01.014
https://api.elsevier.com/content/article/PII:S1525157821000428?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1525157821000428?httpAccept=text/plain

المؤلفون: Machini, Kalotina, Ceyhan-Birsoy, Ozge, Azzariti, Danielle R., Sharma, Himanshu, Rossetti, Peter, Mahanta, Lisa, Hutchinson, Laura, McLaughlin, Heather, Green, Robert C., Lebo, Matthew, Rehm, Heidi L.

المساهمون: National Institutes of Health

المصدر: The American Journal of Human Genetics ; volume 105, issue 1, page 177-188 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2019.05.017
https://api.elsevier.com/content/article/PII:S0002929719302046?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929719302046?httpAccept=text/plain

المؤلفون: 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.

المساهمون: Robert Wood Johnson Foundation, Commonwealth of Pennsylvania, Department of Community and Economic Development, Frontier Communications, The Horace W. Goldsmith Foundation, Mericle Foundation

المصدر: The American Journal of Human Genetics ; volume 103, issue 3, page 328-337 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2018.07.009
https://api.elsevier.com/content/article/PII:S0002929718302362?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929718302362?httpAccept=text/plain

المؤلفون: Boutin, Natalie T., Schecter, Samantha B., Perez, Emma F., Tchamitchian, Natasha S., Cerretani, Xander R., Gainer, Vivian S., Lebo, Matthew S., Mahanta, Lisa M., Karlson, Elizabeth W., Smoller, Jordan W.

المصدر: J Pers Med

مصطلحات موضوعية: Article, info, demo

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9410531/

الاتاحة: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9410531/

المؤلفون: Pugh, Trevor J., Amr, Sami S., Bowser, Mark J., Gowrisankar, Sivakumar, Hynes, Elizabeth, Mahanta, Lisa M., Rehm, Heidi L., Funke, Birgit, Lebo, Matthew S.

المصدر: Genetics in Medicine ; volume 18, issue 7, page 712-719 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/gim.2015.156
http://www.nature.com/articles/gim2015156.pdf
http://www.nature.com/articles/gim2015156
https://api.elsevier.com/content/article/PII:S1098360021044051?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021044051?httpAccept=text/plain

المؤلفون: Ceyhan‐Birsoy, Ozge, Pugh, Trevor J., Bowser, Mark J., Hynes, Elizabeth, Frisella, Ashley L., Mahanta, Lisa M., Lebo, Matt S., Amr, Sami S., Funke, Birgit H.

المساهمون: Partners Healthcare

المصدر: Molecular Genetics & Genomic Medicine ; volume 4, issue 2, page 143-151 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.187
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmgg3.187
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.187
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.187

المؤلفون: Pugh, Trevor J., Kelly, Melissa A., Gowrisankar, Sivakumar, Hynes, Elizabeth, Seidman, Michael A., Baxter, Samantha M., Bowser, Mark, Harrison, Bryan, Aaron, Daniel, Mahanta, Lisa M., Lakdawala, Neal K., McDermott, Gregory, White, Emily T., Rehm, Heidi L., Lebo, Matthew, Funke, Birgit H.

المصدر: Genetics in Medicine ; volume 16, issue 8, page 601-608 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/gim.2013.204
http://www.nature.com/articles/gim2013204.pdf
http://www.nature.com/articles/gim2013204
https://api.elsevier.com/content/article/PII:S1098360021048851?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021048851?httpAccept=text/plain

المؤلفون: Eric, Venner, Yi, Victoria, Murdock, David, Kalla, Sara E., Wu, Tsung-Jung, Sabo, Aniko, Li, Shoudong, Meng, Qingchang, Tian, Xia, Murugan, Mullai, Cohen, Michelle, Kovar, Christie, Wei, Wei-Qi, Chung, Wendy K., Weng, Chunhua, Wiesner, Georgia L., Jarvik, Gail P., Muzny, Donna, Gibbs, Richard A., Abrams, Debra, Adunyah, Samuel E., Albertson-Junkans, Ladia, Almoguera, Berta, Ames, Darren C., Appelbaum, Paul, Aronson, Samuel, Aufox, Sharon, Babb, Lawrence J., Balasubramanian, Adithya, Bangash, Hana, Basford, Melissa, Bastarache, Lisa, Baxter, Samantha, Behr, Meckenzie, Benoit, Barbara, Bhoj, Elizabeth, Bielinski, Suzette J., Bland, Harris T., Blout, Carrie, Borthwick, Kenneth, Bottinger, Erwin P., Bowser, Mark, Brand, Harrison, Brilliant, Murray, Brodeur, Wendy, Caraballo, Pedro, Carrell, David, Carroll, Andrew, Castillo, Lisa, Castro, Victor, Chandanavelli, Gauthami, Chiang, Theodore, Chisholm, Rex L., Christensen, Kurt D., Chung, Wendy, Chute, Christopher G., City, Brittany, Cobb, Beth L., Connolly, John J., Crane, Paul, Crew, Katherine, Crosslin, David R., Dayal, Jyoti, De Andrade, Mariza, De la Cruz, Jessica, Denny, Josh C., Denson, Shawn, DeSmet, Tim, Dikilitas, Ozan, Dinsmore, Michael J., Dodge, Sheila, Dunlea, Phil, Edwards, Todd L., Eng, Christine M., Fasel, David, Fedotov, Alex, Feng, Qiping, Fleharty, Mark, Foster, Andrea, Freimuth, Robert, Friedrich, Christopher, Fullerton, Stephanie M., Funke, Birgit, Gabriel, Stacey, Gainer, Vivian, Gharavi, Ali, Gibbs, Richard A., Glazer, Andrew M., Glessner, Joseph T., Goehringer, Jessica, Gordon, Adam S., Graham, Chet, Green, Robert C., Gundelach, Justin H., Hain, Heather S., Hakonarson, Hakon, Harden, Maegan V., Harley, John, Harr, Margaret, Hartzler, Andrea, Hayes, M. Geoffrey, Hebbring, Scott, Henrikson, Nora, Hershey, Andrew, Hoell, Christin, Holm, Ingrid, Howell, Kayla M., Hripcsak, George, Hu, Jianhong, Hynes, Elizabeth Duffy, Jarvik, Gail P., Jayaseelan, Joy C., Jiang, Yunyun, Joo, Yoonjung Yoonie, Jose, Sheethal, Josyula, Navya Shilpa, Justice, Anne E., Kalra, Divya, Karlson, Elizabeth W., Keating, Brendan J., Kelly, Melissa A., Kenny, Eimear E., Key, Dustin, Kiryluk, Krzysztof, Kitchner, Terrie, Klanderman, Barbara, Klee, Eric, Kochan, David C., Korchina, Viktoriya, Kottyan, Leah, Kudalkar, Emily, Rahm, Alanna Kulchak, Kullo, Iftikhar J., Lammers, Philip, Larson, Eric B., Lebo, Matthew S., Leduc, Magalie, Lee, Ming Ta (Michael), Lennon, Niall J., Leppig, Kathleen A., Leslie, Nancy D., Li, Rongling, Liang, Wayne H., Lin, Chiao-Feng, Linder, Jodell E., Lindor, Noralane M., Lingren, Todd, Linneman, James G., Liu, Cong, Liu, Wen, Liu, Xiuping, Lynch, John, Lyon, Hayley, Macbeth, Alyssa, Mahadeshwar, Harshad, Mahanta, Lisa, Malin, Bradley, Manolio, Teri, Marasa, Maddalena, Marsolo, Keith, McGowan, Michelle L., McNally, Elizabeth, Meldrim, Jim, Mentch, Frank, Rasouly, Hila Milo, Mosley, Jonathan, Mukherjee, Shubhabrata, Mullen, Thomas E., Muniz, Jesse, Murdock, David R., Murphy, Shawn, Murugan, Mullai, Muzny, Donna, Myers, Melanie F., Namjou, Bahram, Ni, Yizhao, Onofrio, Robert C., Obeng, Aniwaa Owusu, Person, Thomas N., Peterson, Josh F., Petukhova, Lynn, Pisieczko, Cassandra J., Pratap, Siddharth, Prows, Cynthia A., Puckelwartz, Megan J., Raj, Ritika, Ralston, James D., Ramaprasan, Arvind, Ramirez, Andrea, Rasmussen, Luke, Rasmussen-Torvik, Laura, Raychaudhuri, Soumya, Rehm, Heidi L., Ritchie, Marylyn D., Rives, Catherine, Riza, Beenish, Roden, Dan M., Rosenthal, Elisabeth A., Santani, Avni, Dan, Schaid, Scherer, Steven, Scott, Stuart, Scrol, Aaron, Sengupta, Soumitra, Shang, Ning, Sharma, Himanshu, Sharp, Richard R., Singh, Rajbir, Sleiman, Patrick M.A., Slowik, Kara, Smith, Joshua C., Smith, Maureen E., Smoot, Duane T., Smoller, Jordan W., Sohn, Sunghwan, Stanaway, Ian B., Starren, Justin, Stroud, Mary, Su, Jessica, Taylor, Casey Overby, Tolwinski, Kasia, Van Driest, Sara L., Vargas, Sean M., Varugheese, Matthew, Veenstra, David, Venner, Eric, Verbitsky, Miguel, Vicente, Gina, Wagner, Michael, Walker, Kimberly, Walunas, Theresa, Wang, Liwen, Wang, Qiaoyan, Wei, Wei-Qi, Weiss, Scott T., Wells, Quinn S., Weng, Chunhua, White, Peter S., Wiesner, Georgia L., Wiley, Ken L., Williams, Janet L., Williams, Marc S., Wilson, Michael W., Witkowski, Leora, Woods, Laura Allison, Woolf, Betty, Wynn, Julia, Yang, Yaping, Zhang, Ge, Zhang, Lan, Zouk, Hana

المصدر: Genetics in Medicine; October 2021, Vol. 23 Issue: 10 p1838-1846, 9p

المؤلفون: Blau, Ashley, Brown, Alison, Mahanta, Lisa, Amr, Sami S.

مصطلحات موضوعية: translational genomics core, academic core facility, genomics services, genotyping, seamless workflows

وصف الملف: application/pdf

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4810389/pdf/; Journal of Personalized Medicine; Blau, Ashley, Alison Brown, Lisa Mahanta, and Sami S. Amr. 2016. “The Translational Genomics Core at Partners Personalized Medicine: Facilitating the Transition of Research towards Personalized Medicine.” Journal of Personalized Medicine 6 (1): 10. doi:10.3390/jpm6010010. http://dx.doi.org/10.3390/jpm6010010.; http://nrs.harvard.edu/urn-3:HUL.InstRepos:26860016

الاتاحة: http://nrs.harvard.edu/urn-3:HUL.InstRepos:26860016
https://doi.org/10.3390/jpm6010010

المؤلفون: Aronson, Samuel, Mahanta, Lisa, Ros, Lei Lei, Clark, Eugene, Babb, Lawrence, Oates, Michael, Rehm, Heidi, Lebo, Matthew

مصطلحات موضوعية: genetic testing process, information technology support, LIMS, LIS, GeneInsight, GIGPAD

وصف الملف: application/pdf

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4810383/pdf/; Journal of Personalized Medicine; Aronson, Samuel, Lisa Mahanta, Lei Lei Ros, Eugene Clark, Lawrence Babb, Michael Oates, Heidi Rehm, and Matthew Lebo. 2016. “Information Technology Support for Clinical Genetic Testing within an Academic Medical Center.” Journal of Personalized Medicine 6 (1): 4. doi:10.3390/jpm6010004. http://dx.doi.org/10.3390/jpm6010004.; http://nrs.harvard.edu/urn-3:HUL.InstRepos:26859992

الاتاحة: http://nrs.harvard.edu/urn-3:HUL.InstRepos:26859992
https://doi.org/10.3390/jpm6010004

المؤلفون: Mahanta, Lisa, Aronson, Samuel, Ros, Lei Lei, Clark, Eugene, Babb, Lawrence, Oates, Michael, Lebo, Matthew, Rehm, Heidi

المصدر: Journal of Personalized Medicine; 2016, Vol. 6 Issue 1, p4, 9p

مصطلحات موضوعية: GENETIC testing, INFORMATION technology, MEDICAL centers

المؤلفون: Boutin, Natalie, Holzbach, Ana, Mahanta, Lisa, Aldama, Jackie, Cerretani, Xander, Embree, Kevin, Leon, Irene, Rathi, Neeta, Vickers, Matilde

المصدر: Journal of Personalized Medicine; 2016, Vol. 6 Issue 1, p6, 6p

مصطلحات موضوعية: BIOBANKS, INDIVIDUALIZED medicine, INFORMATION technology

المؤلفون: Ceyhan‐Birsoy, Ozge, Pugh, Trevor J., Bowser, Mark J., Hynes, Elizabeth, Frisella, Ashley L., Mahanta, Lisa M., Lebo, Matt S., Amr, Sami S., Funke, Birgit H.

المصدر: Molecular Genetics & Genomic Medicine; Mar2016, Vol. 4 Issue 2, p143-151, 9p

مصطلحات موضوعية: DNA copy number variations, NUCLEOTIDE sequencing, GENETIC mutation, CARDIOMYOPATHIES, EXONS (Genetics)

المؤلفون: Tayoun, Ahmad N. Abou, Mason‐Suares, Heather, Frisella, Ashley L., Bowser, Mark, Duffy, Elizabeth, Mahanta, Lisa, Funke, Birgit, Rehm, Heidi L., Amr, Sami S.

المصدر: Human Mutation; Jan2016, Vol. 37 Issue 1, p119-126, 8p