المؤلفون: Philippakis, Anthony A., Onderzoeker, Azzariti, Danielle R., Onderzoeker, Beltran, Sergi, Onderzoeker, Taschner, Peter, Lector

المساهمون: Genome-based Health, Hogeschool Leiden@@@Faculteit Techniek

المصدر: Human Mutation. 36(10):915-921

مصطلحات موضوعية: gene, genome, rare disease, human, sequence

URL الوصول: https://surfsharekit.nl/public/2eb21d4f-db62-4e7b-860c-979aa014a65d
https://surfsharekit.nl/objectstore/553342bc-d494-44dc-a83a-d2af13106a2e

الاتاحة: http://www.hbo-kennisbank.nl/en/page/hborecord.view/?uploadId=sharekit_hsleiden:oai:surfsharekit.nl:2eb21d4f-db62-4e7b-860c-979aa014a65d

المؤلفون: Christensen, Kurt D, Vassy, Jason L, Phillips, Kathryn A, Blout, Carrie L, Azzariti, Danielle R, Lu, Christine Y, Robinson, Jill O, Lee, Kaitlyn, Douglas, Michael P, Yeh, Jennifer M, Machini, Kalotina, Stout, Natasha K, Rehm, Heidi L, McGuire, Amy L, Green, Robert C, Dukhovny, Dmitry, for the MedSeq Project

المصدر: Genetics in Medicine. 20(12)

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Comparative Effectiveness Research, Clinical Research, Cardiovascular, Health Services, Biotechnology, Good Health and Well Being, Cardiology, Cost-Benefit Analysis, Female, Genetic Testing, Humans, Male, Pilot Projects, Primary Health Care, Whole Genome Sequencing, cardiology, costs, economics, primary care, whole-genome sequencing, MedSeq Project, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/99t0x751

المؤلفون: Paul, Lianna, Savatt, Juliann, Azzariti, Danielle, Rehm, Heidi, Riggs, Erin, Martin, Christa

المصدر: Genetics in Medicine ; volume 24, issue 3, page S357-S358 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2022.01.578
https://api.elsevier.com/content/article/PII:S1098360022005950?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360022005950?httpAccept=text/plain

المؤلفون: Savatt, Juliann M., Azzariti, Danielle R., Ledbetter, David H., Palen, Emily, Rehm, Heidi L., Riggs, Erin Rooney, Martin, Christa Lese

المصدر: Genetics in Medicine ; volume 23, issue 9, page 1738-1745 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-021-01197-8
https://www.nature.com/articles/s41436-021-01197-8.pdf
https://www.nature.com/articles/s41436-021-01197-8
https://api.elsevier.com/content/article/PII:S1098360021051005?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021051005?httpAccept=text/plain

المؤلفون: Wain, Karen E., Azzariti, Danielle R., Goldstein, Jennifer L., Johnson, Amy Knight, Krautscheid, Patti, Lepore, Brianna, O’Daniel, Julianne M., Ritter, Deborah, Savatt, Juliann M., Riggs, Erin Rooney, Martin, Christa Lese

المصدر: Genetics in Medicine ; volume 22, issue 4, page 785-792 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-019-0705-9
http://www.nature.com/articles/s41436-019-0705-9.pdf
http://www.nature.com/articles/s41436-019-0705-9
https://api.elsevier.com/content/article/PII:S1098360021011485?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021011485?httpAccept=text/plain

المؤلفون: Wright, Matt W., Thaxton, Courtney L., Nelson, Tristan, DiStefano, Marina T., Savatt, Juliann M., Brush, Matthew H., Cheung, Gloria, Mandell, Mark E., Wulf, Bryan, Ward, TJ, Goehringer, Scott, O'Neill, Terry, Weller, Phil, Preston, Christine G., Keseler, Ingrid M., Goldstein, Jennifer L., Strande, Natasha T., McGlaughon, Jennifer, Azzariti, Danielle R., Cordova, Ineke

المصدر: Annual Review of Biomedical Data Science; 2024, Vol. 7 Issue 1, p31-50, 18p

المؤلفون: Riggs, Erin Rooney, Azzariti, Danielle R., Niehaus, Annie, Goehringer, Scott R., Ramos, Erin M., Rodriguez, Laura Lyman, Knoppers, Bartha, Rehm, Heidi L., Martin, Christa Lese

المصدر: Genetics in Medicine ; volume 21, issue 1, page 81-88 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-018-0017-5
https://www.nature.com/articles/s41436-018-0017-5
https://www.nature.com/articles/s41436-018-0017-5.pdf
https://api.elsevier.com/content/article/PII:S1098360021000848?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021000848?httpAccept=text/plain

المؤلفون: Niehaus, Annie, Azzariti, Danielle R., Harrison, Steven M., DiStefano, Marina T., Hemphill, Sarah E., Senol-Cosar, Ozlem, Rehm, Heidi L.

المصدر: Genetics in Medicine ; volume 21, issue 8, page 1699-1701 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-018-0432-7
http://www.nature.com/articles/s41436-018-0432-7.pdf
http://www.nature.com/articles/s41436-018-0432-7
https://api.elsevier.com/content/article/PII:S1098360021016312?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021016312?httpAccept=text/plain

المؤلفون: Milko, Laura V., Funke, Birgit H., Hershberger, Ray E., Azzariti, Danielle R., Lee, Kristy, Riggs, Erin R., Rivera-Munoz, Edgar A., Weaver, Meredith A., Niehaus, Annie, Currey, Erin L., Craigen, William J., Mao, Rong, Offit, Kenneth, Steiner, Robert D., Martin, Christa L., Rehm, Heidi L., Watson, Michael S., Ramos, Erin M., Plon, Sharon E., Berg, Jonathan S.

المصدر: Genetics in Medicine ; volume 21, issue 4, page 987-993 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-018-0267-2
http://www.nature.com/articles/s41436-018-0267-2
http://www.nature.com/articles/s41436-018-0267-2.pdf
https://api.elsevier.com/content/article/PII:S1098360021009643?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021009643?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: Rivera‐Muñoz, Edgar A., Milko, Laura V., Harrison, Steven M., Azzariti, Danielle R., Kurtz, C. Lisa, Lee, Kristy, Mester, Jessica L., Weaver, Meredith A., Currey, Erin, Craigen, William, Eng, Charis, Funke, Birgit, Hegde, Madhuri, Hershberger, Ray E., Mao, Rong, Steiner, Robert D., Vincent, Lisa M., Martin, Christa L., Plon, Sharon E., Ramos, Erin, Rehm, Heidi L., Watson, Michael, Berg, Jonathan S.

المساهمون: National Human Genome Research Institute

المصدر: Human Mutation ; volume 39, issue 11, page 1614-1622 ; ISSN 1059-7794 1098-1004

الاتاحة: https://doi.org/10.1002/humu.23645
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.23645
https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23645
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/humu.23645

المؤلفون: Porter, Kathryn M., Kauffman, Tia L., Koenig, Barbara A., Lewis, Katie L., Rehm, Heidi L., Richards, Carolyn Sue, Strande, Natasha T., Tabor, Holly K., Wolf, Susan M., Yang, Yaping, Amendola, Laura M., Azzariti, Danielle R., Berg, Jonathan S., Bergstrom, Katie, Biesecker, Leslie G., Biswas, Sawona, Bowling, Kevin M., Chung, Wendy K., Clayton, Ellen W., Conlin, Laura K., Cooper, Gregory M., Dulik, Matthew C., Garraway, Levi A., Ghazani, Arezou A., Green, Robert C., Hiatt, Susan M., Jamal, Seema M., Jarvik, Gail P., Goddard, Katrina A. B., Wilfond, Benjamin S.

المساهمون: National Human Genome Research Institute

المصدر: Molecular Genetics & Genomic Medicine ; volume 6, issue 6, page 898-909 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.453
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmgg3.453
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.453

المؤلفون: Lane, William J, Westhoff, Connie M, Gleadall, Nicholas S, Aguad, Maria, Smeland-Wagman, Robin, Vege, Sunitha, Simmons, Daimon P, Mah, Helen H, Lebo, Matthew S, Walter, Klaudia, Soranzo, Nicole, Di Angelantonio, Emanuele, Danesh, John, Roberts, David J, Watkins, Nick A, Ouwehand, Willem H, Butterworth, Adam S, Kaufman, Richard M, Rehm, Heidi L, Silberstein, Leslie E, Green, Robert C, Bates, David W., Blout, Carrie, Christensen, Kurt D., Cirino, Allison L., Ho, Carolyn Y., Krier, Joel B., Lehmann, Lisa S., MacRae, Calum A., Morton, Cynthia C., Perry, Denise L., Seidman, Christine E., Sunyaev, Shamil R., Vassy, Jason L., Schonman, Erica, Nguyen, Tiffany, Steffens, Eleanor, Betting, Wendi Nicole, Aronson, Samuel J., Ceyhan-Birsoy, Ozge, Machini, Kalotina, McLaughlin, Heather M., Azzariti, Danielle R., Tsai, Ellen A., Blumenthal-Barby, Jennifer, Feuerman, Lindsay Z., McGuire, Amy L., Lee, Kaitlyn, Robinson, Jill O., Slashinski, Melody J.

المساهمون: Brigham and Women's Hospital, National Heart, Lung, and Blood Institute, National Human Genome Research Institute, Doris Duke Charitable Foundation

المصدر: The Lancet Haematology ; volume 5, issue 6, page e241-e251 ; ISSN 2352-3026

الاتاحة: http://dx.doi.org/10.1016/s2352-3026(18)30053-x
https://api.elsevier.com/content/article/PII:S235230261830053X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S235230261830053X?httpAccept=text/plain

المؤلفون: Patel, Ronak Y., Shah, Neethu, Jackson, Andrew R., Ghosh, Rajarshi, Pawliczek, Piotr, Paithankar, Sameer, Baker, Aaron, Riehle, Kevin, Chen, Hailin, Milosavljevic, Sofia, Bizon, Chris, Rynearson, Shawn, Nelson, Tristan, Jarvik, Gail P., Rehm, Heidi L., Harrison, Steven M., Azzariti, Danielle, Powell, Bradford, Babb, Larry, Plon, Sharon E., Milosavljevic, Aleksandar

المساهمون: National Human Genome Research Institute

المصدر: Genome Medicine ; volume 9, issue 1 ; ISSN 1756-994X

الاتاحة: http://dx.doi.org/10.1186/s13073-016-0391-z
http://link.springer.com/content/pdf/10.1186/s13073-016-0391-z.pdf
http://link.springer.com/article/10.1186/s13073-016-0391-z/fulltext.html

المؤلفون: Harrison, Steven M., Dolinsky, Jill S., Knight Johnson, Amy E., Pesaran, Tina, Azzariti, Danielle R., Bale, Sherri, Chao, Elizabeth C., Das, Soma, Vincent, Lisa, Rehm, Heidi L.

المصدر: Genetics in Medicine ; volume 19, issue 10, page 1096-1104 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/gim.2017.14
http://www.nature.com/articles/gim201714.pdf
http://www.nature.com/articles/gim201714
https://api.elsevier.com/content/article/PII:S1098360021013605?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021013605?httpAccept=text/plain
http://www.nature.com/doifinder/10.1038/gim.2017.14

المؤلفون: Boycott, Kym, Azzariti, Danielle, Hamosh, Ada, Rehm, Heidi

الاتاحة: http://dx.doi.org/10.22541/au.164746810.06225040/v1

المؤلفون: Philippakis, Anthony A., Azzariti, Danielle R., Beltran, Sergi, Brookes, Anthony J., Brownstein, Catherine A., Brudno, Michael, Brunner, Han G., Buske, Orion J., Carey, Knox, Doll, Cassie, Dumitriu, Sergiu, Dyke, Stephanie O. M., den Dunnen, Johan T., Firth, Helen V., Gibbs, Richard A., Girdea, Marta, Gonzalez, Michael, Haendel, Melissa A., Hamosh, Ada, Holm, Ingrid A., Huang, Lijia, Hurles, Matthew E., Hutton, Ben, Krier, Joel B., Misyura, Andriy, Mungall, Christopher J., Paschall, Justin, Paten, Benedict, Robinson, Peter N., Schiettecatte, Francois, Sobreira, Nara L., Swaminathan, Ganesh J., Taschner, Peter E., Terry, Sharon F., Washington, Nicole L., Zuechner, Stephan, Boycott, Kym M., Rehm, Heidi L.

المصدر: Philippakis , A A , Azzariti , D R , Beltran , S , Brookes , A J , Brownstein , C A , Brudno , M , Brunner , H G , Buske , O J , Carey , K , Doll , C , Dumitriu , S , Dyke , S O M , den Dunnen , J T , Firth , H V , Gibbs , R A , Girdea , M , Gonzalez , M , Haendel , M A , Hamosh , A , Holm , I A , Huang , L , Hurles ....

مصطلحات موضوعية: matchmaking, rare disease, genomic API, gene discovery, Matchmaker Exchange, GA4GH, IRDiRC

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/9b40684c-cf22-47a2-b4d6-aa0c7247f9db
https://doi.org/10.1002/humu.22858

المؤلفون: Savatt, Juliann, Paul, Lianna, Smith, Rebecca, Walsh, Lauren, Wain, Karen, Azzariti, Danielle, Ledbetter, David, Rehm, Heidi, Taylor, Cora, Riggs, Erin, Martin, Christa

المصدر: Molecular Genetics and Metabolism ; volume 132, page S200-S201 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/s1096-7192(21)00396-6
https://api.elsevier.com/content/article/PII:S1096719221003966?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719221003966?httpAccept=text/plain

المؤلفون: McLaughlin, Heather M, Ceyhan-Birsoy, Ozge, Christensen, Kurt D, Kohane, Isaac S, Krier, Joel, Lane, William J, Lautenbach, Denise, Lebo, Matthew S, Machini, Kalotina, MacRae, Calum A, Azzariti, Danielle R, Murray, Michael F, Seidman, Christine E, Vassy, Jason L, Green, Robert C, Rehm, Heidi L, for The MedSeq Project

مصطلحات موضوعية: Clinical genome sequencing, Incidental findings, MedSeq Project, Clinical report formatting

Relation: http://www.biomedcentral.com/1471-2350/15/134

الاتاحة: http://www.biomedcentral.com/1471-2350/15/134

المؤلفون: Boycott, Kym M., Azzariti, Danielle R., Hamosh, Ada, Rehm, Heidi L.

المصدر: Human Mutation; Jun2022, Vol. 43 Issue 6, p659-667, 9p