المؤلفون: Miga, Karen H, Koren, Sergey, Rhie, Arang, Vollger, Mitchell R, Gershman, Ariel, Bzikadze, Andrey, Brooks, Shelise, Howe, Edmund, Porubsky, David, Logsdon, Glennis A, Schneider, Valerie A, Potapova, Tamara, Wood, Jonathan, Chow, William, Armstrong, Joel, Fredrickson, Jeanne, Pak, Evgenia, Tigyi, Kristof, Kremitzki, Milinn, Markovic, Christopher, Maduro, Valerie, Dutra, Amalia, Bouffard, Gerard G, Chang, Alexander M, Hansen, Nancy F, Wilfert, Amy B, Thibaud-Nissen, Françoise, Schmitt, Anthony D, Belton, Jon-Matthew, Selvaraj, Siddarth, Dennis, Megan Y, Soto, Daniela C, Sahasrabudhe, Ruta, Kaya, Gulhan, Quick, Josh, Loman, Nicholas J, Holmes, Nadine, Loose, Matthew, Surti, Urvashi, Risques, Rosa ana, Graves Lindsay, Tina A, Fulton, Robert, Hall, Ira, Paten, Benedict, Howe, Kerstin, Timp, Winston, Young, Alice, Mullikin, James C, Pevzner, Pavel A, Gerton, Jennifer L, Sullivan, Beth A, Eichler, Evan E, Phillippy, Adam M

المصدر: Nature. 585(7823)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Bioengineering, Nanotechnology, Human Genome, Generic health relevance, Centromere, Chromosomes, Human, X, CpG Islands, DNA Methylation, DNA, Satellite, Female, Genome, Human, Humans, Hydatidiform Mole, Male, Pregnancy, Reproducibility of Results, Telomere, Testis, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/88w7j3n7Test
https://escholarship.org/content/qt88w7j3n7/qt88w7j3n7.pdfTest

المؤلفون: Wang, Tianyun, Hoekzema, Kendra, Vecchio, Davide, Wu, Huidan, Sulovari, Arvis, Coe, Bradley P, Gillentine, Madelyn A, Wilfert, Amy B, Perez-Jurado, Luis A, Kvarnung, Malin, Sleyp, Yoeri, Earl, Rachel K, Rosenfeld, Jill A, Geisheker, Madeleine R, Han, Lin, Du, Bing, Barnett, Chris, Thompson, Elizabeth, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Catford, Rachael, Palmer, Elizabeth E, Zou, Xiaobing, Ou, Jianjun, Li, Honghui, Guo, Hui, Gerdts, Jennifer, Avola, Emanuela, Calabrese, Giuseppe, Elia, Maurizio, Greco, Donatella, Lindstrand, Anna, Nordgren, Ann, Anderlid, Britt-Marie, Vandeweyer, Geert, Van Dijck, Anke, Van der Aa, Nathalie, McKenna, Brooke, Hancarova, Miroslava, Bendova, Sarka, Havlovicova, Marketa, Malerba, Giovanni, Bernardina, Bernardo Dalla, Muglia, Pierandrea, van Haeringen, Arie, Hoffer, Mariette JV, Franke, Barbara, Cappuccio, Gerarda, Delatycki, Martin, Lockhart, Paul J, Manning, Melanie A, Liu, Pengfei, Scheffer, Ingrid E, Brunetti-Pierri, Nicola, Rommelse, Nanda, Amaral, David G, Santen, Gijs WE, Trabetti, Elisabetta, Sedláček, Zdeněk, Michaelson, Jacob J, Pierce, Karen, Courchesne, Eric, Kooy, R Frank, Nordenskjöld, Magnus, Romano, Corrado, Peeters, Hilde, Bernier, Raphael A, Gecz, Jozef, Xia, Kun, Eichler, Evan E

المصدر: Nature Communications. 11(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Commerce, Management, Tourism and Services, SPARK Consortium

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5450h9c4Test

المؤلفون: Wang, Tianyun, Hoekzema, Kendra, Vecchio, Davide, Wu, Huidan, Sulovari, Arvis, Coe, Bradley P, Gillentine, Madelyn A, Wilfert, Amy B, Perez-Jurado, Luis A, Kvarnung, Malin, Sleyp, Yoeri, Earl, Rachel K, Rosenfeld, Jill A, Geisheker, Madeleine R, Han, Lin, Du, Bing, Barnett, Chris, Thompson, Elizabeth, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Catford, Rachael, Palmer, Elizabeth E, Zou, Xiaobing, Ou, Jianjun, Li, Honghui, Guo, Hui, Gerdts, Jennifer, Avola, Emanuela, Calabrese, Giuseppe, Elia, Maurizio, Greco, Donatella, Lindstrand, Anna, Nordgren, Ann, Anderlid, Britt-Marie, Vandeweyer, Geert, Van Dijck, Anke, Van der Aa, Nathalie, McKenna, Brooke, Hancarova, Miroslava, Bendova, Sarka, Havlovicova, Marketa, Malerba, Giovanni, Bernardina, Bernardo Dalla, Muglia, Pierandrea, van Haeringen, Arie, Hoffer, Mariette JV, Franke, Barbara, Cappuccio, Gerarda, Delatycki, Martin, Lockhart, Paul J, Manning, Melanie A, Liu, Pengfei, Scheffer, Ingrid E, Brunetti-Pierri, Nicola, Rommelse, Nanda, Amaral, David G, Santen, Gijs WE, Trabetti, Elisabetta, Sedláček, Zdeněk, Michaelson, Jacob J, Pierce, Karen, Courchesne, Eric, Kooy, R Frank, Nordenskjöld, Magnus, Romano, Corrado, Peeters, Hilde, Bernier, Raphael A, Gecz, Jozef, Xia, Kun, Eichler, Evan E

المصدر: Nature Communications. 11(1)

مصطلحات موضوعية: Genetics, Prevention, 2.1 Biological and endogenous factors, Aetiology, Basic Helix-Loop-Helix Transcription Factors, CCCTC-Binding Factor, Case-Control Studies, Cohort Studies, DNA Mutational Analysis, DNA-Binding Proteins, Female, Genetic Association Studies, Genetic Predisposition to Disease, Heterogeneous-Nuclear Ribonucleoprotein U, High-Throughput Nucleotide Sequencing, Humans, KCNQ3 Potassium Channel, Male, Mutation, Neurodevelopmental Disorders, RNA-Binding Proteins, Repressor Proteins, Transcription Factors, SPARK Consortium

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9mh106j1Test

المؤلفون: Guo, Hui, Bettella, Elisa, Marcogliese, Paul C., Zhao, Rongjuan, Andrews, Jonathan C., Nowakowski, Tomasz J., Gillentine, Madelyn A., Hoekzema, Kendra, Wang, Tianyun, Wu, Huidan, Jangam, Sharayu, Liu, Cenying, Ni, Hailun, Willemsen, Marjolein H., van Bon, Bregje W., Rinne, Tuula, Stevens, Servi J.C., Kleefstra, Tjitske, Brunner, Han G., Yntema, Helger G., Long, Min, Zhao, Wenjing, Hu, Zhengmao, Colson, Cindy, Richard, Nicolas, Schwartz, Charles E., Romano, Corrado, Castiglia, Lucia, Bottitta, Maria, Dhar, Shweta U., Erwin, Deanna J., Emrick, Lisa, Keren, Boris, Afenjar, Alexandra, Zhu, Baosheng, Bai, Bing, Stankiewicz, Pawel, Herman, Kristin, Nickerson, Deborah A., Bamshad, Michael J., Mercimek-Andrews, Saadet, Juusola, Jane, Wilfert, Amy B., Abou Jamra, Rami, Büttner, Benjamin, Mefford, Heather C., Muir, Alison M., Scheffer, Ingrid E., Regan, Brigid M., Malone, Stephen, Gecz, Jozef, Cobben, Jan, Weiss, Marjan M., Waisfisz, Quinten, Bijlsma, Emilia K., Hoffer, Mariëtte J.V., Ruivenkamp, Claudia A.L., Sartori, Stefano, Xia, Fan, Rosenfeld, Jill A., Bernier, Raphael A., Wangler, Michael F., Yamamoto, Shinya, Xia, Kun, Stegmann, Alexander P.A., Bellen, Hugo J., Murgia, Alessandra, Eichler, Evan E.

المصدر: Guo , H , Bettella , E , Marcogliese , P C , Zhao , R , Andrews , J C , Nowakowski , T J , Gillentine , M A , Hoekzema , K , Wang , T , Wu , H , Jangam , S , Liu , C , Ni , H , Willemsen , M H , van Bon , B W , Rinne , T , Stevens , S J C , Kleefstra , T , Brunner , H G , Yntema , H G , Long , M , Zhao , W , ....

العلاقة: https://research.vumc.nl/en/publications/42063201-c6d1-4097-87df-553d6c02bdaeTest

الإتاحة: https://doi.org/10.1038/s41467-019-12435-8Test
https://research.vumc.nl/en/publications/42063201-c6d1-4097-87df-553d6c02bdaeTest
http://www.scopus.com/inward/record.url?scp=85073446694&partnerID=8YFLogxKTest

المؤلفون: Turner, Tychele N., Wilfert, Amy B., Bakken, Trygve E., Bernier, Raphael A., Pepper, Micah R., Zhang, Zhancheng, Torene, Rebecca I., Retterer, Kyle, Eichler, Evan E.

المساهمون: National Institutes of Health, Autism Science Foundation, National Institute of Mental Health, Common Fund of the Office of the Director of the National Institutes of Health, NCI, NHGRI, NHLBI, NIDA, NIMH, NINDS

المصدر: The American Journal of Human Genetics ; volume 105, issue 6, page 1274-1285 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.11.003Test
https://api.elsevier.com/content/article/PII:S0002929719304240?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929719304240?httpAccept=text/plainTest

المؤلفون: Wilfert, Amy B., Sulovari, Arvis, Turner, Tychele N., Coe, Bradley P., Eichler, Evan E.

المصدر: Genome Medicine ; volume 9, issue 1 ; ISSN 1756-994X

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1186/s13073-017-0498-xTest

المؤلفون: Miga, Karen H, Koren, Sergey, Rhie, Arang, Vollger, Mitchell R, Gershman, Ariel, Bzikadze, Andrey, Brooks, Shelise, Howe, Edmund, Porubsky, David, Logsdon, Glennis A, Schneider, Valerie A, Potapova, Tamara, Wood, Jonathan, Chow, William, Armstrong, Joel, Fredrickson, Jeanne, Pak, Evgenia, Tigyi, Kristof, Kremitzki, Milinn, Markovic, Christopher, Maduro, Valerie, Dutra, Amalia, Bouffard, Gerard G, Chang, Alexander M, Hansen, Nancy F, Wilfert, Amy B, Thibaud-Nissen, Françoise, Schmitt, Anthony D, Belton, Jon-Matthew, Selvaraj, Siddarth, Dennis, Megan Y, Soto, Daniela C, Sahasrabudhe, Ruta, Kaya, Gulhan, Quick, Josh, Loman, Nicholas J, Holmes, Nadine, Loose, Matthew, Surti, Urvashi, Risques, Rosa Ana, Graves Lindsay, Tina A, Fulton, Robert, Hall, Ira, Paten, Benedict, Howe, Kerstin, Timp, Winston, Young, Alice, Mullikin, James C, Pevzner, Pavel A, Gerton, Jennifer L, Sullivan, Beth A, Eichler, Evan E, Phillippy, Adam M

مصطلحات موضوعية: Testis, Chromosomes, Human, Centromere, Telomere, Humans, Hydatidiform Mole, DNA, Satellite, Reproducibility of Results, DNA Methylation, CpG Islands, Pregnancy, Genome, Female, Male

وصف الملف: application/pdf

العلاقة: Nature; https://hdl.handle.net/10161/24764Test

الإتاحة: https://doi.org/10.1038/s41586-020-2547-7Test
https://hdl.handle.net/10161/24764Test

المؤلفون: Goldmann, J.M., Hampstead, Juliet E., Wong, W.S., Wilfert, Amy B., Turner, Tychele N., Jonker, M.A., Huynen, M.A., Maxwell, George L., Gilissen, C.F.

المصدر: Genome Research, 31, 9, pp. 1513-1518

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 17: Women's cancers RIHS: Radboud Institute for Health Sciences, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/237152/237152.pdfTest; https://repository.ubn.ru.nl/handle/2066/237152Test; https://doi.org/10.1101/gr.271809.120Test

الإتاحة: https://doi.org/10.1101/gr.271809.120Test
https://repository.ubn.ru.nl//bitstream/handle/2066/237152/237152.pdfTest
https://repository.ubn.ru.nl/handle/2066/237152Test

المؤلفون: Wilfert, Amy B., Turner, Tychele N., Murali, Shwetha C., Hsieh, PingHsun, Sulovari, Arvis, Wang, Tianyun, Coe, Bradley P., Guo, Hui, Hoekzema, Kendra, Bakken, Trygve E., Winterkorn, Lara H., Evani, Uday S., Byrska-Bishop, Marta, Earl, Rachel K., Bernier, Raphael A., Zhou, Xueya, Feliciano, Pamela, Hall, Jacob, Astrovskaya, Irina, Xu, Simon, Shu, Chang, Obiajulu, Joseph, Brueggeman, Leo, Wright, Jessica, Marchenko, Olena, Fleisch, Chris, Chang, Timothy S., Snyder, LeeAnne Green, Barns, Sarah D., Han, Bing, Harvey, William, Nishida, Andrew, Doan, Ryan, Soucy, Aubrey, O’Roak, Brian J., Yu, Timothy W., Geschwind, Daniel, Michaelson, Jacob, Volfovsky, Natalia, Shen, Yufeng, Chung, Wendy K., Zody, Michael C., Eichler, Evan E.

المساهمون: U.S. Department of Health & Human Services | National Institutes of Health, Simons Foundation, Howard Hughes Medical Institute

المصدر: Nature Genetics ; volume 53, issue 8, page 1125-1134 ; ISSN 1061-4036 1546-1718

مصطلحات موضوعية: Genetics

الإتاحة: https://doi.org/10.1038/s41588-021-00899-8Test
https://www.nature.com/articles/s41588-021-00899-8.pdfTest
https://www.nature.com/articles/s41588-021-00899-8Test

المؤلفون: Lopes, Alexandra, Aston, Kenneth I., Thompson, Emma E, Carvalho, Filipa, Gonçalves, João, Huang, N., Matthiesen, Rune, Noordam, Michiel J., Quintela, Ines, Ramu, Avinash, Seabra, Catarina, Wilfert, Amy B., Dai, Juncheng, Downie, Jonathan, Fernandes, Susana, Guo, Xuejiang, Shah, Jiahao, Amorim, Antonio, Barros, Alberto, Carracedo, A., Hu, Z., Hurles, M.E., Moskovtsev, S., Ober, C., Paduch, D.A., Schiffman, J.D., Schlegel, P.N., Sousa, M., Carrell, D.T., Conrad, D.F.

مصطلحات موضوعية: Human Infertility, Human Spermatogenesis, Male Infertility, DMRT1, CNV, Azoospermia, Oligozoospermia, Array, Doenças Genéticas

العلاقة: http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1003349Test; PLoS Genet. 2013 Mar;9(3):e1003349. doi:10.1371/journal.pgen.1003349. Epub 2013 Mar 21; http://hdl.handle.net/10400.18/2157Test

الإتاحة: https://doi.org/10.1371/journal.pgen.1003349Test
http://hdl.handle.net/10400.18/2157Test