المؤلفون: Jennifer Schleit, Meredith Wright, Lauren Olsen, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo del Angel, Katarzyna (Kasia) Ellsworth, Annette Feigenbaum, Erwin Frise, Lucia Guidugli, Kevin Hall, Christian Hansen, Charlotte Hobbs, Mark Kiel, Chad Krilow, Chris Kunard, YongHyun Kwon, Rao Madhavrao, Shyamal Mehtalia, William Mowrey, Jennie Le, Jeremy Leipzig, Yupu Liang, Rebecca Mardach, Danny Oh, Mallory Owen, Liana Protopsaltis, Erica Sanford Kobayashi, Gunter Scharer, Brandon Schultz, Seth Shelnutt, Laurie Smith, Duke Tran, Lucita Van Der Kraan, Kristen Wigby, Mary Willis, Aaron Wolen, Mark Yandell, Thomas Defay, Stephen Kingsmore

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101043- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424001894; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/5daec32c1b634cde9bb11add9157b198

المؤلفون: Paola Nicoletti, Samreen Zafer, Lital Matok, Inbar Irron, Meidva Patrick, Rotem Haklai, John Erol Evangelista, Giacomo B. Marino, Avi Ma’ayan, Anshuman Sewda, Greg Holmes, Sierra R. Britton, Won Jun Lee, Meng Wu, Ying Ru, Eric Arnaud, Lorenzo Botto, Lawrence C. Brody, Jo C. Byren, Michele Caggana, Suzan L. Carmichael, Deirdre Cilliers, Kristin Conway, Karen Crawford, Araceli Cuellar, Federico Di Rocco, Michael Engel, Jeffrey Fearon, Marcia L. Feldkamp, Richard Finnell, Sarah Fisher, Christian Freudlsperger, Gemma Garcia-Fructuoso, Rhinda Hagge, Yann Heuzé, Raymond J. Harshbarger, Charlotte Hobbs, Meredith Howley, Mary M. Jenkins, David Johnson, Cristina M. Justice, Alex Kane, Denise Kay, Arun Kumar Gosain, Peter Langlois, Laurence Legal-Mallet, Angela E. Lin, James L. Mills, Jenny E.V. Morton, Peter Noons, Andrew Olshan, John Persing, Julie M. Phipps, Richard Redett, Jennita Reefhuis, Elias Rizk, Thomas D. Samson, Gary M. Shaw, Robert Sicko, Nataliya Smith, David Staffenberg, Joan Stoler, Elizabeth Sweeney, Peter J. Taub, Andrew T. Timberlake, Jolanta Topczewska, Steven A. Wall, Alexander F. Wilson, Louise C. Wilson, Simeon A. Boyadjiev, Andrew O.M. Wilkie, Joan T. Richtsmeier, Ethylin Wang Jabs, Paul A. Romitti, David Karasik, Ramon Y. Birnbaum, Inga Peter

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101851- (2024)

مصطلحات موضوعية: Coronal Nonsyndromic Craniosynostosis, DLX6 DLX5, GWAS, Regulatory elements, SEM1, Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S294977442400997X; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/7b6e059bb8a041158140daf3599c8d99

المؤلفون: Konstantin Okonechnikov, Aylin Camgöz, Owen Chapman, Sameena Wani, Donglim Esther Park, Jens-Martin Hübner, Abhijit Chakraborty, Meghana Pagadala, Rosalind Bump, Sahaana Chandran, Katerina Kraft, Rocio Acuna-Hidalgo, Derek Reid, Kristin Sikkink, Monika Mauermann, Edwin F. Juarez, Anne Jenseit, James T. Robinson, Kristian W. Pajtler, Till Milde, Natalie Jäger, Petra Fiesel, Ling Morgan, Sunita Sridhar, Nicole G. Coufal, Michael Levy, Denise Malicki, Charlotte Hobbs, Stephen Kingsmore, Shareef Nahas, Matija Snuderl, John Crawford, Robert J. Wechsler-Reya, Tom Belle Davidson, Jennifer Cotter, George Michaiel, Gudrun Fleischhack, Stefan Mundlos, Anthony Schmitt, Hannah Carter, Kulandaimanuvel Antony Michealraj, Sachin A. Kumar, Michael D. Taylor, Jeremy Rich, Frank Buchholz, Jill P. Mesirov, Stefan M. Pfister, Ferhat Ay, Jesse R. Dixon, Marcel Kool, Lukas Chavez

المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/7c75228f7b794031a963791639822393

المؤلفون: Bennet Peterson, Edgar Javier Hernandez, Charlotte Hobbs, Sabrina Malone Jenkins, Barry Moore, Edwin Rosales, Samuel Zoucha, Erica Sanford, Matthew N. Bainbridge, Erwin Frise, Albert Oriol, Luca Brunelli, Stephen F. Kingsmore, Mark Yandell

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-9 (2023)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/91b8bd9593d8450d9ec9685865450840

المؤلفون: Erica Sanford Kobayashi, Serge Batalov, Aaron M. Wenger, Christine Lambert, Harsharan Dhillon, Richard J. Hall, Primo Baybayan, Yan Ding, Seema Rego, Kristen Wigby, Jennifer Friedman, Charlotte Hobbs, Matthew N. Bainbridge

المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-7 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/2babed2768f142b880a44252641b0f86

المؤلفون: Rebecca Fielding-Miller, Smruthi Karthikeyan, Tommi Gaines, Richard S. Garfein, Rodolfo A. Salido, Victor J. Cantu, Laura Kohn, Natasha K. Martin, Adriane Wynn, Carrissa Wijaya, Marlene Flores, Vinton Omaleki, Araz Majnoonian, Patricia Gonzalez-Zuniga, Megan Nguyen, Anh V. Vo, Tina Le, Dawn Duong, Ashkan Hassani, Samantha Tweeten, Kristen Jepsen, Benjamin Henson, Abbas Hakim, Amanda Birmingham, Peter De Hoff, Adam M. Mark, Chanond A. Nasamran, Sara Brin Rosenthal, Niema Moshiri, Kathleen M. Fisch, Greg Humphrey, Sawyer Farmer, Helena M. Tubb, Tommy Valles, Justin Morris, Jaeyoung Kang, Behnam Khaleghi, Colin Young, Ameen D. Akel, Sean Eilert, Justin Eno, Ken Curewitz, Louise C. Laurent, Tajana Rosing, Rob Knight, Nathan A. Baer, Tom Barber, Anelizze Castro-Martinez, Marisol Chacón, Willi Cheung, Evelyn S. Crescini, Emily R. Eisner, Lizbeth Franco Vargas, Charlotte Hobbs, Alma L. Lastrella, Elijah S. Lawrence, Nathaniel L. Matteson, Karthik Gangavarapu, Toan T. Ngo, Phoebe Seaver, Elizabeth W. Smoot, Rebecca Tsai, Bing Xia, Stefan Aigner, Catelyn Anderson, Pedro Belda-Ferre, Shashank Sathe, Mark Zeller, Kristian G. Andersen, Gene W. Yeo, Ezra Kurzban

المصدر: The Lancet Regional Health. Americas, Vol 19, Iss , Pp 100449- (2023)

مصطلحات موضوعية: Wastewater surveillance, SARS-CoV-2, COVID-19 in schools, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2667193X23000236; https://doaj.org/toc/2667-193X

URL الوصول: https://doaj.org/article/b952a5374d7449469a68fe2e85158a71

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: Karamarie Fecho, Chris Bizon, Tursynay Issabekova, Sierra Moxon, Anne E. Thessen, Shervin Abdollahi, Sergio E. Baranzini, Basazin Belhu, William E. Byrd, Lawrence Chung, Andrew Crouse, Marc P. Duby, Stephen Ferguson, Aleksandra Foksinska, Laura Forero, Jennifer Friedman, Vicki Gardner, Gwênlyn Glusman, Jennifer Hadlock, Kristina Hanspers, Eugene Hinderer, Charlotte Hobbs, Gregory Hyde, Sui Huang, David Koslicki, Philip Mease, Sandrine Muller, Christopher J. Mungall, Stephen A. Ramsey, Jared Roach, Irit Rubin, Shepherd H. Schurman, Anath Shalev, Brett Smith, Karthik Soman, Sarah Stemann, Andrew I. Su, Casey Ta, Paul B. Watkins, Mark D. Williams, Chunlei Wu, Colleen H. Xu, The Biomedical Data Translator Consortium

المصدر: Journal of Clinical and Translational Science, Vol 7 (2023)

مصطلحات موضوعية: Translational research, team science, knowledge graphs, bioinformatics, semantic technology, Medicine

وصف الملف: electronic resource

Relation: https://www.cambridge.org/core/product/identifier/S2059866123006192/type/journal_article; https://doaj.org/toc/2059-8661

URL الوصول: https://doaj.org/article/8d108ce3ebbb408b85a7a73670319e07

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: Erica Sanford Kobayashi, Bryce Waldman, Branden M. Engorn, Katherine Perofsky, Erika Allred, Benjamin Briggs, Chelsea Gatcliffe, Nanda Ramchandar, Jeffrey J. Gold, Ami Doshi, Elizabeth G. Ingulli, Courtney D. Thornburg, Wendy Benson, Lauge Farnaes, Shimul Chowdhury, Seema Rego, Charlotte Hobbs, Stephen F. Kingsmore, David P. Dimmock, Nicole G. Coufal

المصدر: Frontiers in Pediatrics, Vol 9 (2022)

مصطلحات موضوعية: genomic sequencing, rapid whole genome sequencing, pediatric intensive care, critical care, cost analysis, health economics, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2021.809536/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/e4d764dcb81347038e600251a1741c59

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: Laura D, Zambrano, Kathleen N, Ly, Ruth, Link-Gelles, Margaret M, Newhams, Manzilat, Akande, Michael J, Wu, Leora R, Feldstein, Keiko M, Tarquinio, Leila C, Sahni, Becky J, Riggs, Aalok R, Singh, Julie C, Fitzgerald, Jennifer E, Schuster, John S, Giuliano, Janet A, Englund, Janet R, Hume, Mark W, Hall, Christina M, Osborne, Sule, Doymaz, Courtney M, Rowan, Christopher J, Babbitt, Katharine N, Clouser, Steven M, Horwitz, Janet, Chou, Manish M, Patel, Charlotte, Hobbs, Adrienne G, Randolph, Angela P, Campbell

المصدر: Pediatric Infectious Disease Journal. 41:891-898

مصطلحات موضوعية: Microbiology (medical), Infectious Diseases, Adolescent, SARS-CoV-2, Case-Control Studies, Pediatrics, Perinatology and Child Health, Ethnicity, COVID-19, Humans, Pilot Projects, Child, Minority Groups, Systemic Inflammatory Response Syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd35d165bb9d181cbc6a481eaebef100
https://doi.org/10.1097/inf.0000000000003689

المؤلفون: Brian, Kirmse, Charlotte, Hobbs, Lisa, Aaron, Grace, Montepiedra, Marshall, Summar, Paige L, Williams, Caitlin J, Smith, Russell, Van Dyke, Chunli, Yu, Kelli K, Ryckman, William, Borkowsky, Anai, Cuadra

المصدر: The Pediatric infectious disease journal. 41(8)

مصطلحات موضوعية: Microbiology (medical), Anti-HIV Agents, Genetic Variation, HIV Infections, Infectious Diseases, Anti-Retroviral Agents, Muscular Diseases, Carnitine, Pediatrics, Perinatology and Child Health, Humans, Reverse Transcriptase Inhibitors, Child, Solute Carrier Family 22 Member 5, Oxidation-Reduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9f8eb9e8790ad6104ecd890b1a277e7
https://pubmed.ncbi.nlm.nih.gov/35622436

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

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/609e8d7e94744aeeb47768b2e021dd86

المؤلفون: Georgia, Pitsava, Marcia L, Feldkamp, Nathan, Pankratz, John, Lane, Denise M, Kay, Kristin M, Conway, Charlotte, Hobbs, Gary M, Shaw, Jennita, Reefhuis, Mary M, Jenkins, Lynn M, Almli, Cynthia, Moore, Martha, Werler, Marilyn L, Browne, Chris, Cunniff, Andrew F, Olshan, Faith, Pangilinan, Lawrence C, Brody, Robert J, Sicko, Richard H, Finnell, Michael J, Bamshad, Daniel, McGoldrick, Deborah A, Nickerson, James C, Mullikin, Paul A, Romitti, James L, Mills

المصدر: Birth Defects Res

مصطلحات موضوعية: Embryology, Sacrococcygeal Region, Health, Toxicology and Mutagenesis, Pediatrics, Perinatology and Child Health, Humans, Infant, Abnormalities, Multiple, Exome, Toxicology, Meningocele, Article, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::735f63c39b1cfb363145e36d1c499f0f
https://doi.org/10.1002/bdr2.1987

المؤلفون: Paul Chapman, Fiona Martin, Austin Booth, Charlotte Hobbs, Beverley Harden, Julie Woodley, David Marsden, Ruth Allarton, Janice St. John-Matthews

المصدر: International Journal of Practice-based Learning in Health and Social Care. 9:49-62

مصطلحات موضوعية: Research and Theory, Descriptive statistics, business.industry, Medicine (miscellaneous), Public relations, Crowdsourcing, Allied health professions, Health Professions (miscellaneous), Education, Call to action, Workforce, Fundamentals and skills, Health education, Sociology, Thematic analysis, business, Sustainable growth rate

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f74eac9e0393136f6b86e9e352238a6e
https://doi.org/10.18552/ijpblhsc.v9i2.732

المؤلفون: Jacob R. Greenmyer, Whitney S. Thompson, Stephanie Mavis, Sara Hassan, Jody Weckwerth, Charlotte Hobbs, Kiely James, Shareef Nahas, Paul Galardy, Christopher Collura

المصدر: Pediatric Blood & Cancer. 70

مصطلحات موضوعية: Oncology, Perforin, Pediatrics, Perinatology and Child Health, Infant, Newborn, Humans, Membrane Proteins, Hematology, Lymphohistiocytosis, Hemophagocytic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e56bfd186d6201677699bebf7c18573
https://doi.org/10.1002/pbc.29871

المؤلفون: Bennet Peterson, Javier Hernandez, Charlotte Hobbs, Sabrina Malone Jenkins, Barry Moore, Edwin Juarez, Samuel Zoucha, Erica Sanford Kobayashi, Matthew N. Bainbridge, Albert Oriol, Luca Brunelli, Stephen Kingsmore, Mark Yandell

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::aca74a5ecedf27756dec9fc820dc3f17
https://doi.org/10.1101/2022.05.06.22274688

المؤلفون: Erica Sanford Kobayashi, Charlotte Hobbs

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4333137729d67844c34fc2cfff7a48fe
https://doi.org/10.1016/b978-0-12-824010-6.00004-6

المؤلفون: Erica Sanford Kobayashi (11991008), Bryce Waldman (11991011), Branden M. Engorn (11991014), Katherine Perofsky (11991017), Erika Allred (11991020), Benjamin Briggs (11991023), Chelsea Gatcliffe (11991026), Nanda Ramchandar (10956984), Jeffrey J. Gold (11991029), Ami Doshi (2110306), Elizabeth G. Ingulli (11991032), Courtney D. Thornburg (11991035), Wendy Benson (11991038), Lauge Farnaes (1854112), Shimul Chowdhury (232293), Seema Rego (11991041), Charlotte Hobbs (11991044), Stephen F. Kingsmore (8397318), David P. Dimmock (11991047), Nicole G. Coufal (1854115)

مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, genomic sequencing, rapid whole genome sequencing, pediatric intensive care, critical care, cost analysis, health economics, quality adjusted life year (QALY)

Relation: https://figshare.com/articles/dataset/Data_Sheet_1_Cost_Efficacy_of_Rapid_Whole_Genome_Sequencing_in_the_Pediatric_Intensive_Care_Unit_pdf/18969470

الاتاحة: https://doi.org/10.3389/fped.2021.809536.s001