المؤلفون: Gargano, Michael A, Matentzoglu, Nicolas, Coleman, Ben, Addo-Lartey, Eunice B, Anagnostopoulos, Anna V, Anderton, Joel, Avillach, Paul, Bagley, Anita M, Bakštein, Eduard, Balhoff, James P, Baynam, Gareth, Bello, Susan M, Berk, Michael, Bertram, Holli, Bishop, Somer, Blau, Hannah, Bodenstein, David F, Botas, Pablo, Boztug, Kaan, Čady, Jolana, Callahan, Tiffany J, Cameron, Rhiannon, Carbon, Seth J, Castellanos, Francisco, Caufield, J Harry, Chan, Lauren E, Chute, Christopher G, Cruz-Rojo, Jaime, Dahan-Oliel, Noémi, Davids, Jon R, de Dieuleveult, Maud, de Souza, Vinicius, de Vries, Bert BA, de Vries, Esther, DePaulo, J Raymond, Derfalvi, Beata, Dhombres, Ferdinand, Diaz-Byrd, Claudia, Dingemans, Alexander JM, Donadille, Bruno, Duyzend, Michael, Elfeky, Reem, Essaid, Shahim, Fabrizzi, Carolina, Fico, Giovanna, Firth, Helen V, Freudenberg-Hua, Yun, Fullerton, Janice M, Gabriel, Davera L, Gilmour, Kimberly, Giordano, Jessica, Goes, Fernando S, Moses, Rachel Gore, Green, Ian, Griese, Matthias, Groza, Tudor, Gu, Weihong, Guthrie, Julia, Gyori, Benjamin, Hamosh, Ada, Hanauer, Marc, Hanušová, Kateřina, He, Yongqun, Hegde, Harshad, Helbig, Ingo, Holasová, Kateřina, Hoyt, Charles Tapley, Huang, Shangzhi, Hurwitz, Eric, Jacobsen, Julius OB, Jiang, Xiaofeng, Joseph, Lisa, Keramatian, Kamyar, King, Bryan, Knoflach, Katrin, Koolen, David A, Kraus, Megan L, Kroll, Carlo, Kusters, Maaike, Ladewig, Markus S, Lagorce, David, Lai, Meng-Chuan, Lapunzina, Pablo, Laraway, Bryan, Lewis-Smith, David, Li, Xiarong, Lucano, Caterina, Majd, Marzieh, Marazita, Mary L, Martinez-Glez, Victor, McHenry, Toby H, McInnis, Melvin G, McMurry, Julie A, Mihulová, Michaela, Millett, Caitlin E, Mitchell, Philip B, Moslerová, Veronika, Narutomi, Kenji, Nematollahi, Shahrzad, Nevado, Julian

المصدر: Nucleic Acids Research. 52(D1)

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Machine Learning and Artificial Intelligence, Networking and Information Technology R&D (NITRD), 4.1 Discovery and preclinical testing of markers and technologies, Generic health relevance, Good Health and Well Being, Humans, Biological Ontologies, Phenotype, Genomics, Algorithms, Rare Diseases, Environmental Sciences, Information and Computing Sciences, Developmental Biology, Biological sciences, Chemical sciences, Environmental sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7956s6h6
https://escholarship.org/content/qt7956s6h6/qt7956s6h6.pdf

المؤلفون: Wojcik, Monica H., Reuter, Chloe M., Marwaha, Shruti, Mahmoud, Medhat, Duyzend, Michael H., Barseghyan, Hayk, Yuan, Bo, Boone, Philip M., Groopman, Emily E., Délot, Emmanuèle C., Jain, Deepti, Sanchis-Juan, Alba, Diseases, Genomics Research to Elucidate the Genetics of Rare, Consortium, Starita, Lea M., Talkowski, Michael, Montgomery, Stephen B., Bamshad, Michael J., Chong, Jessica X., Wheeler, Matthew T., Berger, Seth I., O'Donnell-Luria, Anne, Sedlazeck, Fritz J., Miller, Danny E.

مصطلحات موضوعية: Quantitative Biology - Genomics

URL الوصول: http://arxiv.org/abs/2301.07363

المؤلفون: Dhombres, Ferdinand, Morgan, Patricia, Chaudhari, Bimal P, Filges, Isabel, Sparks, Teresa N, Lapunzina, Pablo, Roscioli, Tony, Agarwal, Umber, Aggarwal, Shagun, Beneteau, Claire, Cacheiro, Pilar, Carmody, Leigh C, Collardeau‐Frachon, Sophie, Dempsey, Esther A, Dufke, Andreas, Duyzend, Michael Henri, Ghosh, Mirna, Giordano, Jessica L, Glad, Ragnhild, Grinfelde, Ieva, Iliescu, Dominic G, Ladewig, Markus S, Munoz‐Torres, Monica C, Pollazzon, Marzia, Radio, Francesca Clementina, Rodo, Carlota, Silva, Raquel Gouveia, Smedley, Damian, Sundaramurthi, Jagadish Chandrabose, Toro, Sabrina, Valenzuela, Irene, Vasilevsky, Nicole A, Wapner, Ronald J, Zemet, Roni, Haendel, Melissa A, Robinson, Peter N

المصدر: American Journal of Medical Genetics Part C Seminars in Medical Genetics. 190(2)

مصطلحات موضوعية: Genetics, Human Genome, Clinical Research, Congenital Structural Anomalies, Prevention, Pediatric, Perinatal Period - Conditions Originating in Perinatal Period, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Neurological, Reproductive health and childbirth, Good Health and Well Being, Infant, Newborn, Humans, Female, Pregnancy, Placenta, Computational Biology, Phenotype, Rare Diseases, Exome Sequencing, HPO, human phenotype ontology, GA4GH Phenopacket, prenatal diagnosis, fetal pathology, prenatal phenotyping, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9m25x832
https://escholarship.org/content/qt9m25x832/qt9m25x832.pdf

المؤلفون: Gargano, Michael A., Matentzoglu, Nicolas, Coleman, Ben, Addo-Lartey, Eunice B., Anagnostopoulos, Anna V., Anderton, Joel, Avillach, Paul, Bagley, Anita M., Bakštein, Eduard, Balhoff, James P., Baynam, Gareth, Bello, Susan M., Berk, Michael, Bertram, Holli, Bishop, Somer, Blau, Hannah, Bodenstein, David F., Botas, Pablo, Boztug, Kaan, Čady, Jolana, Callahan, Tiffany J., Cameron, Rhiannon, Carbon, Seth J., Castellanos, Francisco, Caufield, J. Harry, Chan, Lauren E., Chute, Christopher G., Cruz-Rojo, Jaime, Dahan-Oliel, Noémi, Davids, Jon R., Dieuleveult, Maudde, Souza, Viniciusde, de Vries, Bert B.A., Vries, Estherde, DePaulo, J. Raymond, Derfalvi, Beata, Dhombres, Ferdinand, Diaz-Byrd, Claudia, Dingemans, Alexander J.M., Donadille, Bruno, Duyzend, Michael, Elfeky, Reem, Essaid, Shahim, Fabrizzi, Carolina, Fico, Giovanna, Firth, Helen V., Freudenberg-Hua, Yun, Fullerton, Janice M., Gabriel, Davera L., Gilmour, Kimberly, Giordano, Jessica, Goes, Fernando S., Moses, Rachel Gore, Green, Ian, Griese, Matthias, Groza, Tudor, Gu, Weihong, Guthrie, Julia, Gyori, Benjamin, Hamosh, Ada, Hanauer, Marc, Hanušová, Kateřina, He, Yongqun, Hegde, Harshad, Helbig, Ingo, Holasová, Kateřina, Hoyt, Charles Tapley, Huang, Shangzhi, Hurwitz, Eric, Jacobsen, Julius O.B., Jiang, Xiaofeng, Joseph, Lisa, Keramatian, Kamyar, King, Bryan, Knoflach, Katrin, Koolen, David A., Kraus, Megan L., Kroll, Carlo, Kusters, Maaike, Ladewig, Markus S., Lagorce, David, Lai, Meng Chuan, Lapunzina, Pablo, Laraway, Bryan, Lewis-Smith, David, Li, Xiarong, Lucano, Caterina, Majd, Marzieh, Marazita, Mary L., Martinez-Glez, Victor, McHenry, Toby H., McInnis, Melvin G., McMurry, Julie A., Mihulová, Michaela, Millett, Caitlin E., Mitchell, Philip B., Moslerová, Veronika, Narutomi, Kenji, Nematollahi, Shahrzad, Nevado, Julian, Nierenberg, Andrew A., Čajbiková, Nikola Novák, Nurnberger, John I., Ogishima, Soichi, Olson, Daniel, Ortiz, Abigail, Pachajoa, Harry, Nanclares, Guiomar Perezde, Peters, Amy, Putman, Tim, Rapp, Christina K., Rath, Ana, Reese, Justin, Rekerle, Lauren, Roberts, Angharad M., Roy, Suzy, Sanders, Stephan J., Schuetz, Catharina, Schulte, Eva C., Schulze, Thomas G., Schwarz, Martin, Scott, Katie, Seelow, Dominik, Seitz, Berthold, Shen, Yiping, Similuk, Morgan N., Simon, Eric S., Singh, Balwinder, Smedley, Damian, Smith, Cynthia L., Smolinsky, Jake T., Sperry, Sarah, Stafford, Elizabeth, Stefancsik, Ray, Steinhaus, Robin, Strawbridge, Rebecca, Sundaramurthi, Jagadish Chandrabose, Talapova, Polina, Castano, Jair A.Tenorio, Tesner, Pavel, Thomas, Rhys H., Thurm, Audrey, Turnovec, Marek, van Gijn, Marielle E., Vasilevsky, Nicole A., Vlčková, Markéta, Walden, Anita, Wang, Kai, Wapner, Ron, Ware, James S., Wiafe, Addo A., Wiafe, Samuel A., Wiggins, Lisa D., Williams, Andrew E., Wu, Chen, Wyrwoll, Margot J., Xiong, Hui, Yalin, Nefize, Yamamoto, Yasunori, Yatham, Lakshmi N., Yocum, Anastasia K., Young, Allan H., Yüksel, Zafer, Zandi, Peter P., Zankl, Andreas, Zarante, Ignacio, Zvolský, Miroslav, Toro, Sabrina, Carmody, Leigh C., Harris, Nomi L., Munoz-Torres, Monica C., Danis, Daniel, Mungall, Christopher J., Köhler, Sebastian, Haendel, Melissa A., Robinson, Peter N.

المصدر: Gargano , M A , Matentzoglu , N , Coleman , B , Addo-Lartey , E B , Anagnostopoulos , A V , Anderton , J , Avillach , P , Bagley , A M , Bakštein , E , Balhoff , J P , Baynam , G , Bello , S M , Berk , M , Bertram , H , Bishop , S , Blau , H , Bodenstein , D F , Botas , P , Boztug , K , Čady , J , Callahan , T J , Cameron , R , Carbon , S ....

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/53bfc48d-664b-48c8-aa1a-6eff4a812480
https://research.rug.nl/en/publications/53bfc48d-664b-48c8-aa1a-6eff4a812480
https://doi.org/10.1093/nar/gkad1005
https://pure.rug.nl/ws/files/925936582/The_Human_Phenotype_Ontology_in_2024-_phenotypes_around_the_world.pdf
http://www.scopus.com/inward/record.url?scp=85181760537&partnerID=8YFLogxK

المؤلفون: Gargano, Michael A., Matentzoglu, Nicolas, Coleman, Ben, Addo-Lartey, Eunice B., Anagnostopoulos, Anna V., Anderton, Joel, Avillach, Paul, Bagley, Anita M., Bakštein, Eduard, Balhoff, James P., Baynam, Gareth, Bello, Susan M., Berk, Michael, Bertram, Holli, Bishop, Somer, Blau, Hannah, Bodenstein, David F., Botas, Pablo, Boztug, Kaan, Čady, Jolana, Callahan, Tiffany J., Cameron, Rhiannon, Carbon, Seth J., Castellanos, Francisco, Caufield, J. Harry, Chan, Lauren E., Chute, Christopher G., Cruz-Rojo, Jaime, Dahan-Oliel, Noémi, Davids, Jon R., de Dieuleveult, Maud, de Souza, Vinicius, de Vries, Bert B. A., de Vries, Esther, DePaulo, J. Raymond, Derfalvi, Beata, Dhombres, Ferdinand, Diaz-Byrd, Claudia, Dingemans, Alexander J. M., Donadille, Bruno, Duyzend, Michael, Elfeky, Reem, Essaid, Shahim, Fabrizzi, Carolina, Fico, Giovanna, Firth, Helen V., Freudenberg-Hua, Yun, Fullerton, Janice M., Gabriel, Davera L., Gilmour, Kimberly, Giordano, Jessica, Goes, Fernando S., Gore Moses, Rachel, Green, Ian, Griese, Matthias, Groza, Tudor, Gu, Weihong, Guthrie, Julia, Gyori, Benjamin, Hamosh, Ada, Hanauer, Marc, Hanušová, Kateřina, He, Yongqun Oliver, Hegde, Harshad, Helbig, Ingo, Holasová, Kateřina, Hoyt, Charles Tapley, Huang, Shangzhi, Hurwitz, Eric, Jacobsen, Julius O. B., Jiang, Xiaofeng, Joseph, Lisa, Keramatian, Kamyar, King, Bryan, Knoflach, Katrin, Koolen, David A., Kraus, Megan L., Kroll, Carlo, Kusters, Maaike, Ladewig, Markus S., Lagorce, David, Lai, Meng-Chuan, Lapunzina, Pablo, Laraway, Bryan, Lewis-Smith, David, Li, Xiarong, Lucano, Caterina, Majd, Marzieh, Marazita, Mary L., Martinez-Glez, Victor, McHenry, Toby H., McInnis, Melvin G., McMurry, Julie A., Mihulová, Michaela, Millett, Caitlin E., Mitchell, Philip B., Moslerová, Veronika, Narutomi, Kenji, Nematollahi, Shahrzad, Nevado, Julian, Nierenberg, Andrew A., Novák Čajbiková, Nikola, Nurnberger, John I., Jr., Ogishima, Soichi, Olson, Daniel, Ortiz, Abigail, Pachajoa, Harry, Perez de Nanclares, Guiomar, Peters, Amy, Putman, Tim, Rapp, Christina K., Rath, Ana, Reese, Justin, Rekerle, Lauren, Roberts, Angharad M., Roy, Suzy, Sanders, Stephan J., Schuetz, Catharina, Schulte, Eva C., Schulze, Thomas G., Schwarz, Martin, Scott, Katie, Seelow, Dominik, Seitz, Berthold, Shen, Yiping, Similuk, Morgan N., Simon, Eric S., Singh, Balwinder, Smedley, Damian, Smith, Cynthia L., Smolinsky, Jake T., Sperry, Sarah, Stafford, Elizabeth, Stefancsik, Ray, Steinhaus, Robin, Strawbridge, Rebecca, Sundaramurthi, Jagadish Chandrabose, Talapova, Polina, Tenorio Castano, Jair A., Tesner, Pavel, Thomas, Rhys H., Thurm, Audrey, Turnovec, Marek, van Gijn, Marielle E., Vasilevsky, Nicole A., Vlčková, Markéta, Walden, Anita, Wang, Kai, Wapner, Ron, Ware, James S., Wiafe, Addo A., Wiafe, Samuel A., Wiggins, Lisa D., Williams, Andrew E., Wu, Chen, Wyrwoll, Margot J., Xiong, Hui, Yalin, Nefize, Yamamoto, Yasunori, Yatham, Lakshmi N., Yocum, Anastasia K., Young, Allan H., Yüksel, Zafer, Zandi, Peter P., Zankl, Andreas, Zarante, Ignacio, Zvolský, Miroslav, Toro, Sabrina, Carmody, Leigh C., Harris, Nomi L., Munoz-Torres, Monica C., Danis, Daniel, Mungall, Christopher J., Köhler, Sebastian, Haendel, Melissa A., Robinson, Peter N.

المساهمون: Psychiatry, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Algorithms, Biological ontologies, Genomics, Phenotype, Rare diseases

وصف الملف: application/pdf

Relation: Nucleic Acids Research; Gargano MA, Matentzoglu N, Coleman B, et al. The Human Phenotype Ontology in 2024: phenotypes around the world. Nucleic Acids Res. 2024;52(D1):D1333-D1346. doi:10.1093/nar/gkad1005; https://hdl.handle.net/1805/40981

الاتاحة: https://hdl.handle.net/1805/40981

المؤلفون: Duyzend, Michael H., Cacheiro, Pilar, Jacobsen, Julius O. B., Giordano, Jessica, Brand, Harrison, Wapner, Ronald J., Talkowski, Michael E., Robinson, Peter N., Smedley, Damian

المساهمون: National Institutes of Health

المصدر: Prenatal Diagnosis ; volume 44, issue 4, page 454-464 ; ISSN 0197-3851 1097-0223

الاتاحة: http://dx.doi.org/10.1002/pd.6522
https://obgyn.onlinelibrary.wiley.com/doi/pdf/10.1002/pd.6522

المؤلفون: Cacheiro, Pilar, Lawson, Samantha, Van den Veyver, Ignatia B., Marengo, Gabriel, Zocche, David, Murray, Stephen A., Duyzend, Michael, Robinson, Peter N., Smedley, Damian

المساهمون: NIH

المصدر: Genetics in Medicine ; page 101141 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2024.101141
https://api.elsevier.com/content/article/PII:S1098360024000741?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360024000741?httpAccept=text/plain

المؤلفون: Adams, Sophie, Trocki, Olivia Maher, Miller, Christina, Studwell, Courtney, Bombalicki, Meghan, Dobson, Lori, Horan, Sofia, Sargent, Jordan, Duyzend, Michael, Gray, Kathryn J, Guseh, Stephanie, Wilkins-Haug, Louise

المصدر: Clin Chem ; ISSN:1530-8561 ; Volume:71 ; Issue:1

Relation: https://doi.org/10.1093/clinchem/hvae189; https://pubmed.ncbi.nlm.nih.gov/39749519

الاتاحة: https://doi.org/10.1093/clinchem/hvae189
https://pubmed.ncbi.nlm.nih.gov/39749519

المؤلفون: Gargano, Michael A, Matentzoglu, Nicolas, Coleman, Ben, Addo-Lartey, Eunice B, Anagnostopoulos, Anna V, Anderton, Joel, Avillach, Paul, Bagley, Anita M, Bakštein, Eduard, Balhoff, James P, Baynam, Gareth, Bello, Susan M, Berk, Michael, Bertram, Holli, Bishop, Somer, Blau, Hannah, Bodenstein, David F, Botas, Pablo, Boztug, Kaan, Čady, Jolana, Callahan, Tiffany J, Cameron, Rhiannon, Carbon, Seth J, Castellanos, Francisco, Caufield, J Harry, Chan, Lauren E, Chute, Christopher G, Cruz-Rojo, Jaime, Dahan-Oliel, Noémi, Davids, Jon R, de Dieuleveult, Maud, de Souza, Vinicius, de Vries, Bert B A, de Vries, Esther, DePaulo, J Raymond, Derfalvi, Beata, Dhombres, Ferdinand, Diaz-Byrd, Claudia, Dingemans, Alexander J M, Donadille, Bruno, Duyzend, Michael, Elfeky, Reem, Essaid, Shahim, Fabrizzi, Carolina, Fico, Giovanna, Firth, Helen V, Freudenberg-Hua, Yun, Fullerton, Janice M, Gabriel, Davera L, Gilmour, Kimberly, Giordano, Jessica, Goes, Fernando S, Moses, Rachel Gore, Green, Ian, Griese, Matthias, Groza, Tudor, Gu, Weihong, Guthrie, Julia, Gyori, Benjamin, Hamosh, Ada, Hanauer, Marc, Hanušová, Kateřina, He, Yongqun (Oliver), Hegde, Harshad, Helbig, Ingo, Holasová, Kateřina, Hoyt, Charles Tapley, Huang, Shangzhi, Hurwitz, Eric, Jacobsen, Julius O B, Jiang, Xiaofeng, Joseph, Lisa, Keramatian, Kamyar, King, Bryan, Knoflach, Katrin, Koolen, David A, Kraus, Megan L, Kroll, Carlo, Kusters, Maaike, Ladewig, Markus S, Lagorce, David, Lai, Meng-Chuan, Lapunzina, Pablo, Laraway, Bryan, Lewis-Smith, David, Li, Xiarong, Lucano, Caterina, Majd, Marzieh, Marazita, Mary L, Martinez-Glez, Victor, McHenry, Toby H, McInnis, Melvin G, McMurry, Julie A, Mihulová, Michaela, Millett, Caitlin E, Mitchell, Philip B, Moslerová, Veronika, Narutomi, Kenji, Nematollahi, Shahrzad, Nevado, Julian, Nierenberg, Andrew A, Čajbiková, Nikola Novák, Nurnberger, John I, Jr., Ogishima, Soichi, Olson, Daniel, Ortiz, Abigail, Pachajoa, Harry, Perez de Nanclares, Guiomar, Peters, Amy, Putman, Tim, Rapp, Christina K, Rath, Ana, Reese, Justin, Rekerle, Lauren, Roberts, Angharad M, Roy, Suzy, Sanders, Stephan J, Schuetz, Catharina, Schulte, Eva C, Schulze, Thomas G, Schwarz, Martin, Scott, Katie, Seelow, Dominik, Seitz, Berthold, Shen, Yiping, Similuk, Morgan N, Simon, Eric S, Singh, Balwinder, Smedley, Damian, Smith, Cynthia L, Smolinsky, Jake T, Sperry, Sarah, Stafford, Elizabeth, Stefancsik, Ray, Steinhaus, Robin, Strawbridge, Rebecca, Sundaramurthi, Jagadish Chandrabose, Talapova, Polina, Tenorio Castano, Jair A, Tesner, Pavel, Thomas, Rhys H, Thurm, Audrey, Turnovec, Marek, van Gijn, Marielle E, Vasilevsky, Nicole A, Vlčková, Markéta, Walden, Anita, Wang, Kai, Wapner, Ron, Ware, James S, Wiafe, Addo A, Wiafe, Samuel A, Wiggins, Lisa D, Williams, Andrew E, Wu, Chen, Wyrwoll, Margot J, Xiong, Hui, Yalin, Nefize, Yamamoto, Yasunori, Yatham, Lakshmi N, Yocum, Anastasia K, Young, Allan H, Yüksel, Zafer, Zandi, Peter P, Zankl, Andreas, Zarante, Ignacio, Zvolský, Miroslav, Toro, Sabrina, Carmody, Leigh C, Harris, Nomi L, Munoz-Torres, Monica C, Danis, Daniel, Mungall, Christopher J, Köhler, Sebastian, Haendel, Melissa A, Robinson, Peter N

وصف الملف: text/xml; application/zip; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/378797

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/378797

المؤلفون: Duyzend, Michael, Brand, Harrison, Whelan, Christopher, Lemanski, John, Salani, Monica, Hao, Stephanie, Wong, Isaac, Valkanas, Elise, Cusick, Caroline, Dobson, Lori, Studwell, Courtney, Gianforcaro, Kathleen, Guseh, Stephanie, Currall, Benjamin, Gray, Kathryn, Talkowski, Michael

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100646 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100646
https://api.elsevier.com/content/article/PII:S2949774423006465?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774423006465?httpAccept=text/plain

المؤلفون: Dougherty, Max L, Nuttle, Xander, Penn, Osnat, Nelson, Bradley J, Huddleston, John, Baker, Carl, Harshman, Lana, Duyzend, Michael H, Ventura, Mario, Antonacci, Francesca, Sandstrom, Richard, Dennis, Megan Y, Eichler, Evan E

المصدر: Genome Biology. 18(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Stem Cell Research, 1.1 Normal biological development and functioning, Underpinning research, Generic health relevance, Chromosome Aberrations, Chromosome Breakpoints, Chromosome Disorders, Chromosomes, Human, Pair 1, DNA Copy Number Variations, Evolution, Molecular, Gene Conversion, Gene Duplication, Gene Expression Profiling, Gene Fusion, Genetic Variation, Genetics, Population, Genomics, Humans, Neurons, Open Reading Frames, Organ Specificity, Phenotype, Selection, Genetic, Transcription, Genetic, Evolution, Segmental duplication, Duplicate genes, Gene fusion, Long-read sequencing, 1q21 microdeletion/microduplication syndrome, Environmental Sciences, Information and Computing Sciences, Bioinformatics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5bs9k7rf

المؤلفون: Nuttle, Xander, Giannuzzi, Giuliana, Duyzend, Michael H, Schraiber, Joshua G, Narvaiza, Iñigo, Sudmant, Peter H, Penn, Osnat, Chiatante, Giorgia, Malig, Maika, Huddleston, John, Benner, Chris, Camponeschi, Francesca, Ciofi-Baffoni, Simone, Stessman, Holly AF, Marchetto, Maria CN, Denman, Laura, Harshman, Lana, Baker, Carl, Raja, Archana, Penewit, Kelsi, Janke, Nicolette, Tang, W Joyce, Ventura, Mario, Banci, Lucia, Antonacci, Francesca, Akey, Joshua M, Amemiya, Chris T, Gage, Fred H, Reymond, Alexandre, Eichler, Evan E

المصدر: Nature. 536(7615)

مصطلحات موضوعية: Chromosomes, Human, Pair 16, Animals, Humans, Pan troglodytes, Chromosome Breakage, Genetic Predisposition to Disease, Iron, Proteins, Autistic Disorder, Evolution, Molecular, Species Specificity, Gene Duplication, Recombination, Genetic, Homeostasis, Time Factors, DNA Copy Number Variations, Pongo, Human Genome, Genetics, Biotechnology, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/84x6d03k

المؤلفون: Turner, Tychele N, Hormozdiari, Fereydoun, Duyzend, Michael H, McClymont, Sarah A, Hook, Paul W, Iossifov, Ivan, Raja, Archana, Baker, Carl, Hoekzema, Kendra, Stessman, Holly A, Zody, Michael C, Nelson, Bradley J, Huddleston, John, Sandstrom, Richard, Smith, Joshua D, Hanna, David, Swanson, James M, Faustman, Elaine M, Bamshad, Michael J, Stamatoyannopoulos, John, Nickerson, Deborah A, McCallion, Andrew S, Darnell, Robert, Eichler, Evan E

المصدر: American Journal of Human Genetics. 98(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Autism, Mental Health, Intellectual and Developmental Disabilities (IDD), Biotechnology, Human Genome, Pediatric, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Autistic Disorder, DNA, Exome, Female, Genome, Human, Humans, Male, Pedigree, Polymorphism, Single Nucleotide, 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/7hf4q5rx

المؤلفون: Lozano, Reymundo, Hagerman, Randi J, Duyzend, Michael, Budimirovic, Dejan B, Eichler, Evan E, Tassone, Flora

المصدر: Journal of Neurodevelopmental Disorders. 6(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Brain Disorders, Fragile X Syndrome, Autism, Genetic Testing, Behavioral and Social Science, Genetics, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Mental Health, Pediatric, Clinical Research, Mental health, Premutation, FMR1 gene, Second hit, ASD, Neurodevelopmental disorders, Neurological disorders, Psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8fn708t1
https://escholarship.org/content/qt8fn708t1/qt8fn708t1.pdf

المؤلفون: Guo, Hui, Duyzend, Michael H., Coe, Bradley P., Baker, Carl, Hoekzema, Kendra, Gerdts, Jennifer, Turner, Tychele N., Zody, Michael C., Beighley, Jennifer S., Murali, Shwetha C., Nelson, Bradley J., Bamshad, Michael J., Nickerson, Deborah A., Bernier, Raphael A., Eichler, Evan E.

المصدر: Genetics in Medicine ; volume 21, issue 7, page 1611-1620 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-018-0380-2
http://www.nature.com/articles/s41436-018-0380-2.pdf
http://www.nature.com/articles/s41436-018-0380-2
https://api.elsevier.com/content/article/PII:S1098360021016944?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021016944?httpAccept=text/plain

المؤلفون: Duyzend, Michael H.

المصدر: The Journal of Pediatrics ; volume 259, page 113627 ; ISSN 0022-3476

الاتاحة: http://dx.doi.org/10.1016/j.jpeds.2023.113627
https://api.elsevier.com/content/article/PII:S0022347623004900?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022347623004900?httpAccept=text/plain

المؤلفون: Dougherty, Max L., Nuttle, Xander, Penn, Osnat, Nelson, Bradley J., Huddleston, John, Baker, Carl, Harshman, Lana, Duyzend, Michael H., VENTURA, MARIO, ANTONACCI, FRANCESCA, Sandstrom, Richard, Dennis, Megan Y., Eichler, Evan E.

المساهمون: Dougherty, Max L., Nuttle, Xander, Penn, Osnat, Nelson, Bradley J., Huddleston, John, Baker, Carl, Harshman, Lana, Duyzend, Michael H., Ventura, Mario, Antonacci, Francesca, Sandstrom, Richard, Dennis, Megan Y., Eichler, Evan E.

مصطلحات موضوعية: 1q21 microdeletion/microduplication syndrome, Duplicate gene, Evolution, Gene fusion, Long-read sequencing, Segmental duplication, Ecology, Behavior and Systematic, Genetic, Cell Biology

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000397113300001; volume:18; issue:1; firstpage:49; journal:GENOME BIOLOGY; http://hdl.handle.net/11586/184163; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85014776311; http://genomebiology.com/

الاتاحة: http://hdl.handle.net/11586/184163
https://doi.org/10.1186/s13059-017-1163-9
http://genomebiology.com/

المؤلفون: Wallace, Arianne S., Hudac, Caitlin M., Steinman, Kyle J., Peterson, Jessica L., DesChamps, Trent D., Duyzend, Michael H., Nuttle, Xander, Eichler, Evan E., Bernier, Raphael A.

المساهمون: Simons Foundation Autism Research Initiative

المصدر: Clinical Case Reports ; volume 6, issue 1, page 147-154 ; ISSN 2050-0904 2050-0904

الاتاحة: http://dx.doi.org/10.1002/ccr3.1236
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fccr3.1236
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.1236

المؤلفون: O’Meara, Daniel, Duyzend, Michael, Harper, Beth, Silverstein, Jared

المصدر: Clinical Pediatrics ; volume 61, issue 9, page 659-663 ; ISSN 0009-9228 1938-2707

الاتاحة: http://dx.doi.org/10.1177/00099228221101732
http://journals.sagepub.com/doi/pdf/10.1177/00099228221101732
http://journals.sagepub.com/doi/full-xml/10.1177/00099228221101732

المؤلفون: Duyzend, Michael H.

المصدر: The Journal of Pediatrics ; volume 243, page 77 ; ISSN 0022-3476

الاتاحة: http://dx.doi.org/10.1016/j.jpeds.2021.12.063
https://api.elsevier.com/content/article/PII:S0022347621012701?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022347621012701?httpAccept=text/plain