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, Human Genome, Nanotechnology, 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

URL الوصول: https://escholarship.org/uc/item/88w7j3n7
https://escholarship.org/content/qt88w7j3n7/qt88w7j3n7.pdf

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

URL الوصول: https://escholarship.org/uc/item/5450h9c4
https://escholarship.org/content/qt5450h9c4/qt5450h9c4.pdf

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

URL الوصول: https://escholarship.org/uc/item/9mh106j1
https://escholarship.org/content/qt9mh106j1/qt9mh106j1.pdf

المؤلفون: Lopes, Alexandra M., Aston, Kenneth I., Thompson, Emma, Carvalho, Filipa, Gonçalves, João, Huang, Ni, Matthiesen, Rune, Noordam, Michiel J., Quintela, Inés, Ramu, Avinash, Seabra, Catarina, Wilfert, Amy B., Dai, Juncheng, Downie, Jonathan M., Fernandes, Susana, Guo, Xuejiang, Sha, Jiahao, Amorim, António, Barros, Alberto, Carracedo, Angel, Hu, Zhibin, Hurles, Matthew E., Moskovtsev, Sergey, Ober, Carole, Paduch, Darius A., Schiffman, Joshua D., Schlegel, Peter N., Sousa, Mário, Carrell, Douglas T., Conrad, Donald F.

المصدر: http://knowledge.uchicago.edu/record/10894.

Relation: https://knowledge.uchicago.edu/record/10894/files/journal.pgen.1003349.pdf; https://knowledge.uchicago.edu/record/10894/files/pgen.1003349.zip; http://knowledge.uchicago.edu/record/10894

الاتاحة: https://doi.org/10.1371/journal.pgen.1003349
http://knowledge.uchicago.edu/record/10894

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 , ....

الاتاحة: https://research.vumc.nl/en/publications/42063201-c6d1-4097-87df-553d6c02bdae
https://doi.org/10.1038/s41467-019-12435-8
http://www.scopus.com/inward/record.url?scp=85073446694&partnerID=8YFLogxK

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

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2019.11.003
https://api.elsevier.com/content/article/PII:S0002929719304240?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929719304240?httpAccept=text/plain

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

الاتاحة: http://dx.doi.org/10.1186/s13073-017-0498-x
http://link.springer.com/content/pdf/10.1186/s13073-017-0498-x.pdf

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

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/237152/237152.pdf; https://repository.ubn.ru.nl/handle/2066/237152; https://doi.org/10.1101/gr.271809.120

الاتاحة: https://repository.ubn.ru.nl//bitstream/handle/2066/237152/237152.pdf
https://repository.ubn.ru.nl/handle/2066/237152
https://doi.org/10.1101/gr.271809.120

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

الاتاحة: http://dx.doi.org/10.1038/s41588-021-00899-8
https://www.nature.com/articles/s41588-021-00899-8.pdf
https://www.nature.com/articles/s41588-021-00899-8

المؤلفون: Wilfert, Amy B.

المصدر: Arts & Sciences Electronic Theses and Dissertations

مصطلحات موضوعية: disease, epidemiology, genetics, human, population, statistical, Biology

وصف الملف: application/pdf

Relation: https://openscholarship.wustl.edu/art_sci_etds/1011; https://openscholarship.wustl.edu/cgi/viewcontent.cgi?article=2030&context=art_sci_etds

الاتاحة: https://openscholarship.wustl.edu/art_sci_etds/1011
https://openscholarship.wustl.edu/cgi/viewcontent.cgi?article=2030&context=art_sci_etds

المؤلفون: Wilfert, Amy B, Chao, Katherine R, Kaushal, Madhurima, Jain, Sanjay, Zöllner, Sebastian, Adams, David R, Conrad, Donald F

المصدر: Nature Genetics ; volume 48, issue 12, page 1455-1461 ; ISSN 1061-4036 1546-1718

الاتاحة: http://dx.doi.org/10.1038/ng.3697
http://www.nature.com/articles/ng.3697.pdf
http://www.nature.com/articles/ng.3697

المؤلفون: Lopes, Alexandra M., Aston, Kenneth I., Thompson, Emma, Carvalho, Filipa, Gonçalves, João, Huang, Ni, Matthiesen, Rune, Noordam, Michiel J., Quintela, Inés, Ramu, Avinash, Seabra, Catarina, Wilfert, Amy B., Dai, Juncheng, Downie, Jonathan M., Fernandes, Susana, Guo, Xuejiang, Sha, Jiahao, Amorim, António, Barros, Alberto, Carracedo, Angel

المصدر: PLoS Genetics; Mar2013, Vol. 9 Issue 3, Special section p1-16, 16p, 2 Diagrams, 4 Charts, 4 Graphs

مصطلحات موضوعية: GONADS, PREGNANCY complications, SPERMATOGENESIS, IMPOTENCE, CHROMOSOMES

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.

المساهمون: Repositório Científico do Instituto Nacional de Saúde

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

وصف الملف: application/pdf

Relation: 1553-7390; doi:10.1371/journal.pgen.1003349

الاتاحة: http://hdl.handle.net/10400.18/2157