المؤلفون: Bainbridge, Matthew N, Mazumder, Aloran, Ogasawara, Daisuke, Jamra, Rami Abou, Bernard, Geneviève, Bertini, Enrico, Burglen, Lydie, Cope, Heidi, Crawford, Ali, Derksen, Alexa, Dure, Leon, Gantz, Emily, Koch-Hogrebe, Margarete, Hurst, Anna CE, Mahida, Sonal, Marshall, Paige, Micalizzi, Alessia, Novelli, Antonio, Peng, Hongfan, Medicine, Rady Children's Institute for Genomic, Rodriguez, Diana, Robbins, Shira L, Rutledge, S Lane, Scalise, Roberta, Schließke, Sophia, Shashi, Vandana, Srivastava, Siddharth, Thiffault, Isabella, Topol, Sarah, Acosta, Maria T, Adam, Margaret, Adams, David R, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H, Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C, Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Byers, Peter, Byrd, William E, Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Coggins, Matthew, Cole, F Sessions, Colley, Heather A, Cooper, Cynthia M, Craigen, William J, Crouse, Andrew B, Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G, Deardorff, Matthew, Dell’Angelica, Esteban C, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L, Douine, Emilie D, Duncan, Laura, Earl, Dawn

المصدر: Brain. 145(10)

مصطلحات موضوعية: Biotechnology, Brain Disorders, Genetics, Neurosciences, Clinical Research, Rare Diseases, Eye Disease and Disorders of Vision, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Neurological, Humans, Child, Endocannabinoids, Phenotype, Nervous System Diseases, Heterozygote, Syndrome, Mutant Proteins, endocannabinoid, episodic ataxia, paroxysmal tonic upgaze, nystagmus, developmental delay, Rady Children's Institute for Genomic Medicine, Undiagnosed Disease Network, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1tp7967m

المؤلفون: Peterson, Bennet, Hernandez, Edgar Javier, Hobbs, Charlotte, Malone Jenkins, Sabrina, Moore, Barry, Rosales, Edwin, Zoucha, Samuel, Sanford, Erica^{Aff3, Aff5}, Bainbridge, Matthew N., Frise, Erwin, Oriol, Albert, Brunelli, Luca, Kingsmore, Stephen F., Yandell, Mark^{Aff2, IDs13073023011667_cor14}

المصدر: Genome Medicine. 15(1)

المؤلفون: Choi, Dong-Joo, Armstrong, Georgina, Lozzi, Brittney, Vijayaraghavan, Prashanth, Plon, Sharon E., Wong, Terence C., Boerwinkle, Eric, Muzny, Donna M., Chen, Hsiao-Chi, Gibbs, Richard A., Ostrom, Quinn T., Melin, Beatrice S., Deneen, Benjamin, Bondy, Melissa L., Bainbridge, Matthew N.

المساهمون: Gliogene Consortium, Contributor, Genomics England Res Consortium, Contributor

المصدر: Science Advances. 9(17)

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-209881
https://doi.org/10.1126/SCIADV.ADE2675
https://umu.diva-portal.org/smash/get/diva2:1768978/FULLTEXT01.pdf

المؤلفون: Dimmock, David P, Clark, Michelle M, Gaughran, Mary, Cakici, Julie A, Caylor, Sara A, Clarke, Christina, Feddock, Michele, Chowdhury, Shimul, Salz, Lisa, Cheung, Cynthia, Bird, Lynne M, Hobbs, Charlotte, Wigby, Kristen, Farnaes, Lauge, Bloss, Cinnamon S, Kingsmore, Stephen F, Investigators, the RCIGM, Bainbridge, Matthew N, Barea, Jaime, Batalov, Sergey, Bezares, Zaira, Braun, Joshua JA, Del Campo, Miguel, Carroll, Jeanne, Cohenmeyer, Casey, Coufal, Nicole G, Diaz, Carlos, Ding, Yan, Ellsworth, Katarzyna, Evans, Marva, Feigenbaum, Annette, Friedman, Jennifer, Gleeson, Joe, Hansen, Christian, Honold, Jose, James, Kiely, Jones, Marilyn C, Kimball, Amy, Knight, Gail, Van Der Kraan, Lucitia, Lane, Brian, Le, Jennie, Leibel, Sandra, Lenberg, Jerica, Mashburn, Dana, Moyer, Laurel, Mulrooney, Patrick, Nahas, Shareef, Oh, Daeheon, Orendain, Daniken, Oriol, Albert, Ortiz-Arechiga, Maria, Prince, Lance, Rego, Seema, Reyes, Iris, Sanford, Erica, Sauer, Charles, Schwanemann, Leila, Speziale, Mark, Suttner, Denise, Sweeney, Nathaly, Song, Richard, Tokita, Mari, Veeraraghavan, Narayanan, Watkins, Kelly, Wong, Terence, Wright, Meredith S, Yamada, Catherine

المصدر: American Journal of Human Genetics. 107(5)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Health Sciences, Genetics, Clinical Trials and Supportive Activities, Clinical Research, Biotechnology, Infectious Diseases, Pediatric, Human Genome, Good Health and Well Being, Chromosome Mapping, Clinical Decision-Making, Critical Illness, Disease Management, Female, Genetic Diseases, Inborn, Genetic Testing, Genome, Human, Humans, Infant, Infant, Newborn, Intensive Care Units, Neonatal, Logistic Models, Male, Prospective Studies, Time Factors, Whole Genome Sequencing, RCIGM Investigators, NSIGHT2, clinical utility, diagnostic testing outcomes, healthcare cost-benefit analysis, neonatal intensive care unit, pediatric intensive care unit, rapid whole-exome sequencing, rapid whole-genome sequencing, ultra-rapid whole-genome sequencing, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/289757jt
https://escholarship.org/content/qt289757jt/qt289757jt.pdf

المؤلفون: Sanford, Erica F, Clark, Michelle M, Farnaes, Lauge, Williams, Matthew R, Perry, James C, Ingulli, Elizabeth G, Sweeney, Nathaly M, Doshi, Ami, Gold, Jeffrey J, Briggs, Benjamin, Bainbridge, Matthew N, Feddock, Michele, Watkins, Kelly, Chowdhury, Shimul, Nahas, Shareef A, Dimmock, David P, Kingsmore, Stephen F, Coufal, Nicole G

المصدر: Pediatric Critical Care Medicine. 20(11)

مصطلحات موضوعية: Human Genome, Pediatric Research Initiative, Genetics, Clinical Research, Patient Safety, Pediatric, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Generic health relevance, Good Health and Well Being, Adolescent, Child, Child, Preschool, Critical Illness, Female, Genetic Diseases, Inborn, Humans, Infant, Intensive Care Units, Pediatric, Male, Precision Medicine, Retrospective Studies, Whole Genome Sequencing, clinical utility, diagnostic utility, genomics, pediatric critical care, precision medicine, whole genome sequencing, RCIGM Investigators, Nursing, Paediatrics and Reproductive Medicine, Pediatrics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7165w94q

المؤلفون: Kingsmore, Stephen F, Cakici, Julie A, Clark, Michelle M, Gaughran, Mary, Feddock, Michele, Batalov, Sergey, Bainbridge, Matthew N, Carroll, Jeanne, Caylor, Sara A, Clarke, Christina, Ding, Yan, Ellsworth, Katarzyna, Farnaes, Lauge, Hildreth, Amber, Hobbs, Charlotte, James, Kiely, Kint, Cyrielle I, Lenberg, Jerica, Nahas, Shareef, Prince, Lance, Reyes, Iris, Salz, Lisa, Sanford, Erica, Schols, Peter, Sweeney, Nathaly, Tokita, Mari, Veeraraghavan, Narayanan, Watkins, Kelly, Wigby, Kristen, Wong, Terence, Chowdhury, Shimul, Wright, Meredith S, Dimmock, David, Investigators, the RCIGM, Bezares, Zaira, Bloss, Cinnamon, Braun, Joshua JA, Diaz, Carlos, Mashburn, Dana, Tamang, Dorjee, Orendain, Daniken, Friedman, Jenni, Gleeson, Joe, Barea, Jaime, Chiang, George, Cohenmeyer, Casey, Coufal, Nicole G, Evans, Marva, Honold, Jose, Hovey, Raymond L, Kimball, Amy, Lane, Brian, Le, Crystal, Le, Jennie, Leibel, Sandra, Moyer, Laurel, Mulrooney, Patrick, Oh, Daeheon, Ordonez, Paulina, Oriol, Albert, Ortiz-Arechiga, Maria, Puckett, Laura, Speziale, Mark, Suttner, Denise, Van Der Kraan, Lucitia, Knight, Gail, Sauer, Charles, Song, Richard, White, Sarah, Wise, Audra, Yamada, Catherine

المصدر: American Journal of Human Genetics. 105(4)

مصطلحات موضوعية: Human Genome, Pediatric, Clinical Research, Genetics, Clinical Trials and Supportive Activities, Good Health and Well Being, Genetic Testing, Humans, Infant, Infant, Newborn, Exome Sequencing, Whole Genome Sequencing, RCIGM Investigators, diagnosis, genetic disease, genomic medicine, infant, intensive care unit, precision medicine, ultra-rapid whole-genome sequencing, whole-exome sequencing, whole-genome sequencing, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9h05k7vh

المؤلفون: Hopkins, Christopher E., McCormick, Kathryn, Brock, Trisha, Wood, Matthew, Ruggiero, Sarah, Mcbride, Kolt, Kim, Christine, Lawson, Jennifer A., Helbig, Ingo, Bainbridge, Matthew N.

المصدر: In Genetics in Medicine Open 2023 1(1)

المؤلفون: Sanford Kobayashi, Erica^{Aff1, Aff2, IDs4159802220113x_cor1}, Batalov, Serge, Wenger, Aaron M., Lambert, Christine, Dhillon, Harsharan, Hall, Richard J., Baybayan, Primo, Ding, Yan, Rego, Seema, Wigby, Kristen^{Aff1, Aff4}, Friedman, Jennifer^{Aff1, Aff4, Aff5}, Hobbs, Charlotte, Bainbridge, Matthew N.

المصدر: Scientific Reports. 12(1)

المؤلفون: Stanclift, Caroline R., Dwight, Selina S., Lee, Kevin, Eijkenboom, Quirine L., Wilsey, Matt, Wilsey, Kristen, Kobayashi, Erica Sanford, Tong, Sandra^{Aff1, IDs13023022025923_cor8}, Bainbridge, Matthew N.^{Aff2, IDs13023022025923_cor9}

المصدر: Orphanet Journal of Rare Diseases. 17(1)

المؤلفون: Evani, Uday S., Challis, Danny, Yu, Jin, Jackson, Andrew R., Paithankar, Sameer, Bainbridge, Matthew N., Coarfa, Cristian, Milosavljevic, Aleksandar, Yu, Fuli

المصدر: 2011 IEEE International Workshop on Genomic Signal Processing and Statistics (GENSIPS) Genomic Signal Processing and Statistics (GENSIPS), 2011 IEEE International Workshop on. :117-120 Dec, 2011

Relation: 2011 IEEE International Workshop on Genomic Signal Processing and Statistics (GENSIPS)