المؤلفون: Chelsea S. Rapoport, Diane Masser‐Frye, Sapna Mehta, Alyssa K. Choi, Sydney Olfus, Megan Korhummel, Veronica Hoyo, David Dimmock, Vanessa L. Malcarne, Dennis J. Kuo

المصدر: Cancer Reports, Vol 7, Iss 9, Pp n/a-n/a (2024)

مصطلحات موضوعية: genetic counseling, genetic testing, hereditary neoplastic syndromes, pediatric cancer, pediatric oncology, psychosocial studies, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2573-8348

URL الوصول: https://doaj.org/article/d70c4fca0e7348bd8c7e3505b5ef4a60

المؤلفون: Kristen M. Wigby, Deanna Brockman, Gregory Costain, Caitlin Hale, Stacie L. Taylor, John Belmont, David Bick, David Dimmock, Susan Fernbach, John Greally, Vaidehi Jobanputra, Shashikant Kulkarni, Elizabeth Spiteri, Ryan J. Taft

المصدر: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/27365d57311546bc828aa98a13d450ea

المؤلفون: John L. P. Thompson, Amel Karaa, Hung Pham, Philip Yeske, Jeffrey Krischer, Yi Xiao, Yuelin Long, Amanda Kramer, David Dimmock, Amy Holbert, Cliff Gorski, Kristin M. Engelstad, Richard Buchsbaum, Xiomara Q. Rosales, Michio Hirano

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/0ab8185a7bbc4e9d90ca43b00e093ccb

المؤلفون: Lauren Thompson, Austin Larson, Lisa Salz, Regan Veith, John-Paul Tsai, Anuj Jayakar, Rachel Chapman, Apeksha Gupta, Stephen F. Kingsmore, David Dimmock, Alan Bedrick, Maureen Kelly Galindo, Kari Casas, Mohamed Mohamed, Lisa Straight, M. Akram Khan, Daria Salyakina

المصدر: Frontiers in Pediatrics, Vol 12 (2024)

مصطلحات موضوعية: genomic testing, diagnostic testing, rare disease, neonatal, pediatric, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1349519/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/d4247d3c615a40bd9f199dcdcda3c707

المؤلفون: R. Ryanne Wu, Rachel A. Myers, Joan Neuner, Catherine McCarty, Irina V. Haller, Melissa Harry, Kimberly G. Fulda, David Dimmock, Tejinder Rakhra-Burris, Adam Buchanan, Geoffrey S. Ginsburg, Lori A. Orlando

المصدر: BMC Health Services Research, Vol 22, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: Hybrid implementation-effectiveness, Risk assessment, Clinical decision support, Family health history, Precision medicine, Health belief model, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1472-6963

URL الوصول: https://doaj.org/article/17ee3790089a49ab983173a90b673d44

المؤلفون: Prashanth Vijayaraghavan, Sergey Batalov, Yan Ding, Erica Sanford, Stephen F. Kingsmore, David Dimmock, Charlotte Hobbs, Matthew Bainbridge

المصدر: PLoS ONE, Vol 18, Iss 1 (2023)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9879404/?tool=EBI; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/554f79ccbcce46a9bfb052f0385c9366

المؤلفون: John L. P. Thompson, Amel Karaa, Hung Pham, Philip Yeske, Jeffrey Krischer, Yi Xiao, Yuelin Long, Amanda Kramer, David Dimmock, Amy Holbert, Cliff Gorski, Kristin M. Engelstad, Richard Buchsbaum, Xiomara Q. Rosales, Michio Hirano

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-1 (2023)

مصطلحات موضوعية: Medicine

Relation: https://doi.org/10.1186/s13023-023-02832-0; https://doaj.org/toc/1750-1172; https://doaj.org/article/447b83e0075d4a2d9ba0757470bbe7d7

الاتاحة: https://doi.org/10.1186/s13023-023-02832-0
https://doaj.org/article/447b83e0075d4a2d9ba0757470bbe7d7

المؤلفون: Omar Hikmat, Pirjo Isohanni, Nandaki Keshavan, Matteo P. Ferla, Elisa Fassone, Mary‐Alice Abbott, Marcello Bellusci, Niklas Darin, David Dimmock, Daniele Ghezzi, Henry Houlden, Federica Invernizzi, Nazreen B. Kamarus Jaman, Manju A. Kurian, Eva Morava, Karin Naess, Juan Darío Ortigoza‐Escobar, Sumit Parikh, Alessandra Pennisi, Giulia Barcia, Karin B. Tylleskär, Damien Brackman, Saskia B. Wortmann, Jenny C. Taylor, Laurence A. Bindoff, Vineta Fellman, Shamima Rahman

المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 11, Pp 2155-2165 (2021)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/7ea99688d16d4beba2c9f25ff13dc276

المؤلفون: Nathaly M. Sweeney, Shareef A. Nahas, Sh. Chowdhury, Sergey Batalov, Michelle Clark, Sara Caylor, Julie Cakici, John J. Nigro, Yan Ding, Narayanan Veeraraghavan, Charlotte Hobbs, David Dimmock, Stephen F. Kingsmore

المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/9e711bd54acf4e9aa9ebc1d277aeea67

المؤلفون: Robin Z. Hayeems, David Dimmock, David Bick, John W. Belmont, Robert C. Green, Brendan Lanpher, Vaidehi Jobanputra, Roberto Mendoza, Shashi Kulkarni, Megan E. Grove, Stacie L. Taylor, Euan Ashley, Medical Genome Initiative

المصدر: npj Genomic Medicine, Vol 5, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/1ed1964adc59405fabebc0e2ef72b8b1

المؤلفون: Lori A. Orlando, R. Ryanne Wu, Rachel A. Myers, Joan Neuner, Catherine McCarty, Irina V. Haller, Melissa Harry, Kimberly G. Fulda, David Dimmock, Teji Rakhra-Burris, Adam Buchanan, Geoffrey S. Ginsburg

المصدر: BMC Health Services Research, Vol 20, Iss 1, Pp 1-10 (2020)

مصطلحات موضوعية: Risk assessment, Family health history, Genetic risk, Population health, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12913-020-05868-1; https://doaj.org/toc/1472-6963

URL الوصول: https://doaj.org/article/c94dc3ff6b6943ed89f139e00f4443c0

المؤلفون: Christian R. Marshall, David Bick, John W. Belmont, Stacie L. Taylor, Euan Ashley, David Dimmock, Vaidehi Jobanputra, Hutton M. Kearney, Shashikant Kulkarni, Heidi Rehm, on behalf of the Medical Genome Initiative

المصدر: Genome Medicine, Vol 12, Iss 1, Pp 1-4 (2020)

مصطلحات موضوعية: Clinical whole-genome sequencing, Diagnostics, Standards, Rare genetic disease, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13073-020-00748-z; https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/4264dfc1843f467c90a0e29dff46fc69

المؤلفون: Sejal Kadakia, Lauge Farnaes, David Dimmock, Shimul Chowdhury, Yan Ding, Eric J. Anderson, Stephen Kingsmore, Ron S. Newfield

المصدر: Clinical Case Reports, Vol 7, Iss 11, Pp 2123-2127 (2019)

مصطلحات موضوعية: autoimmunity, bone marrow transplantation, diabetes mellitus, infant, X‐linked, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2050-0904

URL الوصول: https://doaj.org/article/8b05bae1ade848c985145b8906ce1512

المؤلفون: Sabrina Malone Jenkins, Rachel Palmquist, Ashley L. Kapron, Carrie Torr, D. Hunter Best, Mary Anne Karren, Luca Brunelli, Mark Yandell, Martin Tristani-Firouzi, David Dimmock, Brian Watts, Jeffrey R. Botkin, Ann Johnson, Joshua L. Bonkowsky

المصدر: Journal of Clinical and Translational Science, Vol 5 (2021)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://www.cambridge.org/core/product/identifier/S2059866121008335/type/journal_article; https://doaj.org/toc/2059-8661

URL الوصول: https://doaj.org/article/3306a7dcbdec461b8bf1fa13ee2cd96b

المؤلفون: Nathaly M. Sweeney, Shareef A. Nahas, Shimul Chowdhury, Sergey Batalov, Michelle Clark, Sara Caylor, Julie Cakici, John J. Nigro, Yan Ding, Narayanan Veeraraghavan, Charlotte Hobbs, David Dimmock, Stephen F. Kingsmore

المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-1 (2021)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

Relation: https://doi.org/10.1038/s41525-021-00206-8; https://doaj.org/toc/2056-7944; https://doaj.org/article/5c84196fbd2942d9ad984aa6da8cb7f5

الاتاحة: https://doi.org/10.1038/s41525-021-00206-8
https://doaj.org/article/5c84196fbd2942d9ad984aa6da8cb7f5

المؤلفون: Jennifer Friedman, Desiree E. Smith, Mahmoud Y. Issa, Valentina Stanley, Rengang Wang, Marisa I. Mendes, Meredith S. Wright, Kristen Wigby, Amber Hildreth, John R. Crawford, Alanna E. Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing-Sze Lo, Kiely N. James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan T. Tran, Tarek E. I. Omar, Tawfeg Ben-Omran, David Dimmock, Stephen F. Kingsmore, Gajja S. Salomons, Maha S. Zaki, Geneviève Bernard, Joseph G. Gleeson

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/2b11aa05a4174343ac7596764303089f

المؤلفون: Lauren Thompson, Austin Larson, Lisa Salz, Regan Veith, John-Paul Tsai, Anuj Jayakar, Rachel Chapman, Apeksha Gupta, Stephen F. Kingsmore, David Dimmock, Alan Bedrick, Maureen Kelly Galindo, Kari Casas, Mohamed Mohamed, Lisa Straight, M. Akram Khan, Daria Salyakina

مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, genomic testing, diagnostic testing, rare disease, neonatal, pediatric

Relation: https://figshare.com/articles/dataset/Table5_Multi-center_implementation_of_rapid_whole_genome_sequencing_provides_additional_evidence_of_its_utility_in_the_pediatric_inpatient_setting_xlsx/25242358

الاتاحة: https://doi.org/10.3389/fped.2024.1349519.s005
https://figshare.com/articles/dataset/Table5_Multi-center_implementation_of_rapid_whole_genome_sequencing_provides_additional_evidence_of_its_utility_in_the_pediatric_inpatient_setting_xlsx/25242358

المؤلفون: Xin Chen, Daniel A. Lim, Michael W. Lawlor, David Dimmock, Charles H. Vite, Thomas Lester, Fatemeh Tavakkoli, Chanchal Sadhu, Suyash Prasad, Steven J. Gray

المصدر: Human Gene Therapy. 34:94-111

مصطلحات موضوعية: Genetics, Molecular Medicine, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7331c335f7e3d319fe4c155f9b639a19
https://doi.org/10.1089/hum.2022.163

المؤلفون: Kristen Wigby, Monia Hammer, Mari Tokita, Priyanka Patel, Marilyn C. Jones, Austin Larson, Frances Velez Bartolomei, Natalie Dykzeul, Anne Slavotinek, Tiffany Yip, Sara Bandres‐Ciga, Brittany N. Simpson, Kristen Suhrie, Suma Shankar, Regan Veith, Jennifer Bragg, Cynthia Powell, Stephen F. Kingsmore, David Dimmock, Jill Maron, Jonathan Davis, Miguel Del Campo

المصدر: American Journal of Medical Genetics Part A. 191:930-940

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::19a1f41cddc9d40b67f93802a51d42ff
https://doi.org/10.1002/ajmg.a.63097

المؤلفون: Benedikt Schoser, Deborah A. Bilder, David Dimmock, Digant Gupta, Emma S. James, Suyash Prasad

المصدر: BMC Neurology, Vol 17, Iss 1, Pp 1-17 (2017)

مصطلحات موضوعية: Pompe, Humanistic burden, Quality of life, Daily living, Caregiver burden, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12883-017-0983-2; https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/7ad359fad3e34eda8568d1a82e1fd189