المؤلفون: Friedman, Jan M., Bombard, Yvonne, Carleton, Bruce, Issa, Amalia M., Knoppers, Bartha, Plon, Sharon E., Rahimzadeh, Vasiliki, Relling, Mary V., Williams, Marc S., van Karnebeek, Clara, Vears, Danya

المصدر: Friedman , J M , Bombard , Y , Carleton , B , Issa , A M , Knoppers , B , Plon , S E , Rahimzadeh , V , Relling , M V , Williams , M S , van Karnebeek , C , Vears , D & Global Alliance for Genomics and Health Regulatory and Ethics Workstream 2024 , ' Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child? ' , Genetics in Medicine , vol. 26 , no. 2 , 101033 . https://doi.org/10.1016/j.gim.2023.101033

Relation: https://research.vumc.nl/en/publications/5e0deb1a-d044-4c19-a92b-9aab9e319f98

الاتاحة: https://research.vumc.nl/en/publications/5e0deb1a-d044-4c19-a92b-9aab9e319f98
https://doi.org/10.1016/j.gim.2023.101033
http://www.scopus.com/inward/record.url?scp=85181889637&partnerID=8YFLogxK

المؤلفون: Bhattarai, Kashi Raj, Mobley, Robert J., Barnett, Kelly R., Ferguson, Daniel C., Hansen, Baranda S., Diedrich, Jonathan D., Bergeron, Brennan P., Yoshimura, Satoshi, Yang, Wenjian, Crews, Kristine R., Manring, Christopher S., Jabbour, Elias, Paietta, Elisabeth, Litzow, Mark R., Kornblau, Steven M., Stock, Wendy, Inaba, Hiroto, Jeha, Sima, Pui, Ching-Hon, Cheng, Cheng, Pruett-Miller, Shondra M., Relling, Mary V., Yang, Jun J., Evans, William E., Savic, Daniel

المساهمون: Division of Cancer Prevention, National Cancer Institute, U.S. Department of Health & Human Services | NIH | NCI | Division of Cancer Epidemiology and Genetics, National Cancer Institute, U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences

المصدر: Nature Communications ; volume 15, issue 1 ; ISSN 2041-1723

الاتاحة: http://dx.doi.org/10.1038/s41467-024-48124-4
https://www.nature.com/articles/s41467-024-48124-4.pdf
https://www.nature.com/articles/s41467-024-48124-4

المؤلفون: Maillard, Maud, Nishii, Rina, Yang, Wenjian, Hoshitsuki, Keito, Chepyala, Divyabharathi, Lee, Shawn H R, Nguyen, Jenny Q, Relling, Mary V, Crews, Kristine R, Leggas, Mark, Singh, Meenu, Suang, Joshua L Y, Yeoh, Allen E J, Jeha, Sima, Inaba, Hiroto, Pui, Ching-Hon, Karol, Seth E, Trehan, Amita, Bhatia, Prateek, Antillon Klussmann, Federico G, Bhojwani, Deepa, Haidar, Cyrine E, Yang, Jun J

المساهمون: National Institutes of Health

المصدر: JNCI: Journal of the National Cancer Institute ; volume 116, issue 5, page 702-710 ; ISSN 0027-8874 1460-2105

الاتاحة: https://doi.org/10.1093/jnci/djae004
https://academic.oup.com/jnci/advance-article-pdf/doi/10.1093/jnci/djae004/56346865/djae004.pdf
https://academic.oup.com/jnci/advance-article-pdf/doi/10.1093/jnci/djae004/57420892/djae004.pdf

المؤلفون: Vijayakrishnan, Jayaram, Qian, Maoxiang, Studd, James B, Yang, Wenjian, Kinnersley, Ben, Law, Philip J, Broderick, Peter, Raetz, Elizabeth A, Allan, James, Pui, Ching-Hon, Vora, Ajay, Evans, William E, Moorman, Anthony, Yeoh, Allen, Yang, Wentao, Li, Chunliang, Bartram, Claus R, Mullighan, Charles G, Zimmerman, Martin, Hunger, Stephen P, Schrappe, Martin, Relling, Mary V, Stanulla, Martin, Loh, Mignon L, Houlston, Richard S, Yang, Jun J

المصدر: Nature communications. 10(1)

مصطلحات موضوعية: Humans, Genetic Predisposition to Disease, RNA-Binding Proteins, Oncogene Proteins, Fusion, Risk Factors, Polymorphism, Single Nucleotide, Child, Core Binding Factor Alpha 2 Subunit, bcl-2 Homologous Antagonist-Killer Protein, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, Genome-Wide Association Study, Epigenomics, Transcriptome, Oncogene Proteins, Fusion, Polymorphism, Single Nucleotide

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5285g4mc

المؤلفون: Rowland, Lauren, Smart, Brandon, Brown, Anthony, Dettorre, Gino M, Gocho, Yoshihiro, Hunt, Jeremy, Yang, Wenjian, Yoshimura, Satoshi, Reyes, Noemi, Du, Guoqing, John, August, Maxwell, Dylan, Stock, Wendy, Kornblau, Steven, Relling, Mary V, Inaba, Hiroto, Pui, Ching-Hon, Bourquin, Jean-Pierre, Karol, Seth E, Mullighan, Charles G, Evans, William E, Yang, Jun J, Crews, Kristine R

المصدر: Rowland, Lauren; Smart, Brandon; Brown, Anthony; Dettorre, Gino M; Gocho, Yoshihiro; Hunt, Jeremy; Yang, Wenjian; Yoshimura, Satoshi; Reyes, Noemi; Du, Guoqing; John, August; Maxwell, Dylan; Stock, Wendy; Kornblau, Steven; Relling, Mary V; Inaba, Hiroto; Pui, Ching-Hon; Bourquin, Jean-Pierre; Karol, Seth E; Mullighan, Charles G; Evans, William E; Yang, Jun J; Crews, Kristine R (2023). Ex vivo Drug Sensitivity Imaging-based Platform for Primary Acute Lymphoblastic Leukemia Cells. Bio-protocol, 13(15):e4731.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health, Acute lymphoblastic leukemia, Ex vivo drug sensitivity, Fluorescence imaging, Functional precision medicine, Pharmacogenomics, Pharmacotyping

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/252432/1/ZORA_252432.pdf; info:pmid/37575398; urn:issn:2331-8325

الاتاحة: https://www.zora.uzh.ch/id/eprint/252432/
https://www.zora.uzh.ch/id/eprint/252432/1/ZORA_252432.pdf
https://doi.org/10.21769/BioProtoc.4731

المؤلفون: Gammal, Roseann S, Pirmohamed, Munir, Somogyi, Andrew A, Morris, Sarah A, Formea, Christine M, Elchynski, Amanda L, Oshikoya, Kazeem A, McLeod, Howard L, Haidar, Cyrine E, Whirl-Carrillo, Michelle, Klein, Teri E, Caudle, Kelly E, Relling, Mary V

وصف الملف: text

Relation: http://livrepository.liverpool.ac.uk/3170528/1/CPIC%20G6PD%20Update_5.26.2022%20%28FINAL%29_REVISED_8.17.22.docx; http://livrepository.liverpool.ac.uk/3170528/2/CPIC%20G6PD%20Update%20SUPPLEMENT_5.26.2022%20%28FINAL%29_REVISED_7.7.2022.docx; Collapse authors list. Gammal, Roseann S, Pirmohamed, Munir orcid:0000-0002-7534-7266 , Somogyi, Andrew A, Morris, Sarah A, Formea, Christine M, Elchynski, Amanda L, Oshikoya, Kazeem A, McLeod, Howard L, Haidar, Cyrine E, Whirl-Carrillo, Michelle et al (show 3 more authors) , Klein, Teri E, Caudle, Kelly E and Relling, Mary V (2023) Expanded Clinical Pharmacogenetics Implementation Consortium Guideline for Medication Use in the Context of G6PD Genotype. CLINICAL PHARMACOLOGY & THERAPEUTICS, 113 (5). pp. 973-985.

الاتاحة: http://livrepository.liverpool.ac.uk/3170528/
https://doi.org/10.1002/cpt.2735
http://livrepository.liverpool.ac.uk/3170528/1/CPIC%20G6PD%20Update_5.26.2022%20%28FINAL%29_REVISED_8.17.22.docx
http://livrepository.liverpool.ac.uk/3170528/2/CPIC%20G6PD%20Update%20SUPPLEMENT_5.26.2022%20%28FINAL%29_REVISED_7.7.2022.docx

المؤلفون: Lee, Shawn H. R., Yang, Wenjian, Gocho, Yoshihiro, John, August, Rowland, Lauren, Smart, Brandon, Williams, Hannah, Maxwell, Dylan, Hunt, Jeremy, Yang, Wentao, Crews, Kristine R., Roberts, Kathryn G., Jeha, Sima, Cheng, Cheng, Karol, Seth E., Relling, Mary V., Rosner, Gary L., Inaba, Hiroto, Mullighan, Charles G., Pui, Ching-Hon, Evans, William E., Yang, Jun J.

المساهمون: U.S. Department of Health & Human Services | National Institutes of Health, American Lebanese Syrian Associated Charities, MOH | National Medical Research Council

المصدر: Nature Medicine ; volume 29, issue 1, page 170-179 ; ISSN 1078-8956 1546-170X

الاتاحة: http://dx.doi.org/10.1038/s41591-022-02112-7
https://www.nature.com/articles/s41591-022-02112-7.pdf
https://www.nature.com/articles/s41591-022-02112-7

المؤلفون: Barnett, Kelly R., Mobley, Robert J., Diedrich, Jonathan D., Bergeron, Brennan P., Bhattarai, Kashi Raj, Monovich, Alexander C., Narina, Shilpa, Yang, Wenjian, Crews, Kristine R., Manring, Christopher S., Jabbour, Elias, Paietta, Elisabeth, Litzow, Mark R., Kornblau, Steven M., Stock, Wendy, Inaba, Hiroto, Jeha, Sima, Pui, Ching-Hon, Mullighan, Charles G., Relling, Mary V., Pruett-Miller, Shondra M., Ryan, Russell J.H., Yang, Jun J., Evans, William E., Savic, Daniel

المساهمون: NIH, National Cancer Institute, National Institute of General Medical Sciences, American Lebanese Syrian Associated Charities

المصدر: Cell Genomics ; volume 3, issue 12, page 100442 ; ISSN 2666-979X

الاتاحة: http://dx.doi.org/10.1016/j.xgen.2023.100442
https://api.elsevier.com/content/article/PII:S2666979X2300277X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2666979X2300277X?httpAccept=text/plain

المؤلفون: Suiter, Chase C., Moriyama, Takaya, Matreyek, Kenneth A., Yang, Wentao, Scaletti, Emma Rose, Nishii, Rina, Yang, Wenjian, Hoshitsuki, Keito, Singh, Minu, Trehan, Amita, Parish, Chris, Smith, Colton, Li, Lie, Bhojwani, Deepa, Yuen, Liz Y. P., Li, Chi-kong, Li, Chak-ho, Yang, Yung-li, Walker, Gareth J., Goodhand, James R., Kennedy, Nicholas A., Klussmann, Federico Antillon, Bhatia, Smita, Relling, Mary V., Kato, Motohiro, Hori, Hiroki, Bhatia, Prateek, Ahmad, Tariq, Yeoh, Allen E. J., Stenmark, Pål, Fowler, Douglas M., Yang, Jun J.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2020 Mar 01. 117(10), 5394-5401.

URL الوصول: https://www.jstor.org/stable/26929252

المؤلفون: Diouf, Barthelemy, Lin, Wenwei, Goktug, Asli, Grace, Christy RR, Waddell, Michael Brett, Bao, Ju, Shao, Youming, Heath, Richard J, Zheng, Jie J, Shelat, Anang A, Relling, Mary V, Chen, Taosheng, Evans, William E

المصدر: SLAS DISCOVERY. 23(2)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Biotechnology, Underpinning research, 1.1 Normal biological development and functioning, Generic health relevance, Fluorescence Resonance Energy Transfer, HEK293 Cells, High-Throughput Screening Assays, Humans, RNA Splicing, RNA, Small Nuclear, Ribonucleoproteins, Small Nuclear, Small Molecule Libraries, Spliceosomes, Topotecan, Screening, NHP2L1, U4, splicing, Biochemistry and Cell Biology, Medicinal & Biomolecular Chemistry, Biochemistry and cell biology, Medical biochemistry and metabolomics, Medical biotechnology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6n59k9tg

المؤلفون: Yoshimura, Satoshi, Li, Zhenhua, Gocho, Yoshihiro, Yang, Wenjian, Crews, Kristine R., Lee, Shawn H.R., Roberts, Kathryn G., Mullighan, Charles G., Relling, Mary V., Yu, Jiyang, Yeoh, Allen E.J., Loh, Mignon L., Saygin, Caner, Litzow, Mark R., Jeha, Sima, Karol, Seth E., Inaba, Hiroto, Pui, Ching-Hon, Konopleva, Marina, Jain, Nitin

المصدر: Journal of Clinical Oncology; 10/10/2024, Vol. 42 Issue 29, p3478-3490, 15p

المؤلفون: Stone, Rachael M., Haidar, Cyrine E., Kornegay, Nancy M., Barker, Patricia J., Karol, Seth E., Wolf, Joshua, Hankins, Jane S., Relling, Mary V., Crews, Kristine R.

المصدر: Pediatric Infectious Disease Journal; Dec2024, Vol. 43 Issue 12, p1179-1181, 3p

المؤلفون: Wiley, Ken, Findley, Laura, Goldrich, Madison, Rakhra-Burris, Tejinder K., Stevens, Ana, Williams, Pamela, Bult, Carol J., Chisholm, Rex, Deverka, Patricia, Ginsburg, Geoffrey S., Green, Eric D., Jarvik, Gail, Mensah, George A., Ramos, Erin, Relling, Mary V., Roden, Dan M., Rowley, Robb, Alterovitz, Gil, Aronson, Samuel, Bastarache, Lisa, Cimino, James J., Crowgey, Erin L., Del Fiol, Guilherme, Freimuth, Robert R., Hoffman, Mark A., Jeff, Janina, Johnson, Kevin, Kawamoto, Kensaku, Madhavan, Subha, Mendonca, Eneida A., Ohno-Machado, Lucila, Pratap, Siddharth, Overby Taylor, Casey, Ritchie, Marylyn D., Walton, Nephi, Weng, Chunhua, Zayas-Cabán, Teresa, Manolio, Teri A., Williams, Marc S.

المساهمون: Pediatrics, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Clinical decision support systems, Clinical informatics, Genomics

وصف الملف: application/pdf

Relation: Journal of the American Medical Informatics Association; Wiley K, Findley L, Goldrich M, et al. A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources. J Am Med Inform Assoc. 2022;29(8):1342-1349. doi:10.1093/jamia/ocac057; https://hdl.handle.net/1805/34598

الاتاحة: https://hdl.handle.net/1805/34598

المؤلفون: Pristup, Julika, Schaeffeler, Elke, Arjune, Sita, Hofmann, Ute, Angel Santamaria‐Araujo, Jose, Leuthold, Patrick, Friedrich, Nele, Nauck, Matthias, Mayr, Simon, Haag, Mathias, Muerdter, Thomas, Marner, Franz‐Josef, Relling, Mary V., Evans, William E., Schwarz, Guenter, Schwab, Matthias

المساهمون: Deutsche Forschungsgemeinschaft, National Cancer Institute, American Lebanese Syrian Associated Charities

المصدر: Clinical Pharmacology & Therapeutics ; volume 112, issue 4, page 808-816 ; ISSN 0009-9236 1532-6535

الاتاحة: http://dx.doi.org/10.1002/cpt.2637
https://onlinelibrary.wiley.com/doi/pdf/10.1002/cpt.2637
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/cpt.2637
https://ascpt.onlinelibrary.wiley.com/doi/pdf/10.1002/cpt.2637

المؤلفون: Bergeron, Brennan P., Diedrich, Jonathan D., Zhang, Yang, Barnett, Kelly R., Dong, Qian, Ferguson, Daniel C., Autry, Robert J., Yang, Wenjian, Hansen, Baranda S., Smith, Colton, Crews, Kristine R., Fan, Yiping, Pui, Ching-Hon, Pruett-Miller, Shondra M., Relling, Mary V., Yang, Jun J., Li, Chunliang, Evans, William E., Savic, Daniel

المساهمون: U.S. Department of Health & Human Services | National Institutes of Health

المصدر: Leukemia ; volume 36, issue 10, page 2374-2383 ; ISSN 0887-6924 1476-5551

الاتاحة: http://dx.doi.org/10.1038/s41375-022-01685-z
https://www.nature.com/articles/s41375-022-01685-z.pdf
https://www.nature.com/articles/s41375-022-01685-z

المؤلفون: Nguyen, Jenny Q, Crews, Kristine R, Moore, Ben T, Kornegay, Nancy M, Baker, Donald K, Hasan, Murad, Campbell, Patrick K, Dean, Shannon M, Relling, Mary V, Hoffman, James M, Haidar, Cyrine E

المساهمون: American Lebanese Syrian Associated Charities, National Institutes of Health

المصدر: Journal of the American Medical Informatics Association ; volume 30, issue 1, page 132-138 ; ISSN 1067-5027 1527-974X

الاتاحة: https://doi.org/10.1093/jamia/ocac187
https://academic.oup.com/jamia/article-pdf/30/1/132/47830134/ocac187.pdf

المؤلفون: Manolio, Teri A., Narula, Jahnavi, Bult, Carol J., Chisholm, Rex L., Deverka, Patricia A., Ginsburg, Geoffrey S., Goldrich, Madison, Green, Eric D., Jarvik, Gail P., Mensah, George A., Ramos, Erin M., Relling, Mary V., Roden, Dan M., Rowley, Robb, Williams, Marc S.

المصدر: The American Journal of Human Genetics ; volume 109, issue 12, page 2101-2104 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2022.11.003
https://api.elsevier.com/content/article/PII:S0002929722004943?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929722004943?httpAccept=text/plain

المؤلفون: Moriyama, Takaya, Metzger, Monika L, Wu, Gang, Nishii, Rina, Qian, Maoxiang, Devidas, Meenakshi, Yang, Wenjian, Cheng, Cheng, Cao, Xueyuan, Quinn, Emily, Raimondi, Susana, Gastier-Foster, Julie M, Raetz, Elizabeth, Larsen, Eric, Martin, Paul L, Bowman, W Paul, Winick, Naomi, Komada, Yoshihiro, Wang, Shuoguo, Edmonson, Michael, Xu, Heng, Mardis, Elaine, Fulton, Robert, Pui, Ching-Hon, Mullighan, Charles, Evans, William E, Zhang, Jinghui, Hunger, Stephen P, Relling, Mary V, Nichols, Kim E, Loh, Mignon L, Yang, Jun J

المصدر: The Lancet Oncology. 16(16)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Genetic Testing, Hematology, Human Genome, Clinical Research, Cancer, Childhood Leukemia, Genetics, Pediatric Cancer, Rare Diseases, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Age Factors, Biomarkers, Tumor, Case-Control Studies, Child, Child, Preschool, Computational Biology, DNA Mutational Analysis, Databases, Genetic, Exome, Female, Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Karyotyping, Male, Phenotype, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Proto-Oncogene Proteins c-ets, Repressor Proteins, Risk Factors, Treatment Outcome, Oncology & Carcinogenesis, Oncology and carcinogenesis

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6tb0q11t
https://escholarship.org/content/qt6tb0q11t/qt6tb0q11t.pdf

المؤلفون: Xu, Heng, Zhang, Hui, Yang, Wenjian, Yadav, Rachita, Morrison, Alanna C, Qian, Maoxiang, Devidas, Meenakshi, Liu, Yu, Perez-Andreu, Virginia, Zhao, Xujie, Gastier-Foster, Julie M, Lupo, Philip J, Neale, Geoff, Raetz, Elizabeth, Larsen, Eric, Bowman, W Paul, Carroll, William L, Winick, Naomi, Williams, Richard, Hansen, Torben, Holm, Jens-Christian, Mardis, Elaine, Fulton, Robert, Pui, Ching-Hon, Zhang, Jinghui, Mullighan, Charles G, Evans, William E, Hunger, Stephen P, Gupta, Ramneek, Schmiegelow, Kjeld, Loh, Mignon L, Relling, Mary V, Yang, Jun J

المصدر: Nature communications. 6(1)

مصطلحات موضوعية: Hematopoietic Stem Cells, Animals, Humans, Mice, Genetic Predisposition to Disease, DNA-Binding Proteins, Transcription Factors, Case-Control Studies, Mutagenesis, Site-Directed, Genotype, Germ-Line Mutation, Mutation, Missense, Child, Cyclin-Dependent Kinase Inhibitor p16, Cyclin-Dependent Kinase Inhibitor p15, Ikaros Transcription Factor, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Genetic Variation, Genome-Wide Association Study, HEK293 Cells, Mutagenesis, Site-Directed, Mutation, Missense

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0m96r4r7

المؤلفون: Ma, Xiaotu, Edmonson, Michael, Yergeau, Donald, Muzny, Donna M, Hampton, Oliver A, Rusch, Michael, Song, Guangchun, Easton, John, Harvey, Richard C, Wheeler, David A, Ma, Jing, Doddapaneni, HarshaVardhan, Vadodaria, Bhavin, Wu, Gang, Nagahawatte, Panduka, Carroll, William L, Chen, I-Ming, Gastier-Foster, Julie M, Relling, Mary V, Smith, Malcolm A, Devidas, Meenakshi, Guidry Auvil, Jaime M, Downing, James R, Loh, Mignon L, Willman, Cheryl L, Gerhard, Daniela S, Mullighan, Charles G, Hunger, Stephen P, Zhang, Jinghui

المصدر: Nature communications. 6(1)

مصطلحات موضوعية: Clone Cells, Humans, Neoplasm Recurrence, Local, Disease Progression, GTP Phosphohydrolases, 5'-Nucleotidase, Histone-Lysine N-Methyltransferase, Membrane Proteins, Extracellular Matrix Proteins, Repressor Proteins, Mutation, Child, Female, Male, Tumor Suppressor Protein p53, CREB-Binding Protein, Ikaros Transcription Factor, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, DNA Copy Number Variations, Exome, Clonal Evolution, Neoplasm Recurrence, Local, 5-Nucleotidase

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/40p9h9xz