المؤلفون: Werling, Donna M, Pochareddy, Sirisha, Choi, Jinmyung, An, Joon-Yong, Sheppard, Brooke, Peng, Minshi, Li, Zhen, Dastmalchi, Claudia, Santpere, Gabriel, Sousa, André MM, Tebbenkamp, Andrew TN, Kaur, Navjot, Gulden, Forrest O, Breen, Michael S, Liang, Lindsay, Gilson, Michael C, Zhao, Xuefang, Dong, Shan, Klei, Lambertus, Cicek, A Ercument, Buxbaum, Joseph D, Adle-Biassette, Homa, Thomas, Jean-Leon, Aldinger, Kimberly A, O'Day, Diana R, Glass, Ian A, Zaitlen, Noah A, Talkowski, Michael E, Roeder, Kathryn, State, Matthew W, Devlin, Bernie, Sanders, Stephan J, Sestan, Nenad

المصدر: Cell reports. 31(1)

مصطلحات موضوعية: BrainVar, DLPFC, LOC101926933 RP11-298I3.1 AL132780.1 ENSG00000257285, PsychENCODE, RHEBL1, dorsolateral prefrontal cortex, fetal transition, mTOR, prenatal eQTL, Biochemistry and Cell Biology, Medical Physiology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8j92s7z1Test

المؤلفون: Qiu, Chengxiang, Martin, Beth K, Welsh, Ian C, Daza, Riza M, Le, Truc-Mai, Huang, Xingfan, Nichols, Eva K, Taylor, Megan L, Fulton, Olivia, O'Day, Diana R, Gomes, Anne Roshella, Ilcisin, Saskia, Srivatsan, Sanjay, Deng, Xinxian, Disteche, Christine M, Noble, William Stafford, Hamazaki, Nobuhiko, Moens, Cecilia B, Kimelman, David, Cao, Junyue, Schier, Alexander F, Spielmann, Malte, Murray, Stephen A, Trapnell, Cole, Shendure, Jay

المصدر: Nature ; ISSN:1476-4687 ; Volume:626 ; Issue:8001

العلاقة: https://doi.org/10.1038/s41586-024-07069-wTest; https://pubmed.ncbi.nlm.nih.gov/38355799Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10901739Test/

الإتاحة: https://doi.org/10.1038/s41586-024-07069-wTest
https://pubmed.ncbi.nlm.nih.gov/38355799Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10901739Test/

المؤلفون: Chiou, Kenneth L., Huang, Xingfan, Bohlen, Martin O., Tremblay, Sébastien, DeCasien, Alex R., O’Day, Diana R., Spurrell, Cailyn H., Gogate, Aishwarya A., Zintel, Trisha M., Andrews, Madeline G., Martínez, Melween I., Starita, Lea M., Montague, Michael J., Platt, Michael L., Shendure, Jay, Snyder-Mackler, Noah

المصدر: Science Advances ; volume 9, issue 41 ; ISSN 2375-2548

الإتاحة: https://doi.org/10.1126/sciadv.adh1914Test

المؤلفون: Kane, Megan S., Davids, Mariska, Bond, Michelle R., Adams, Christopher J., Grout, Megan E., Phelps, Ian G., O’Day, Diana R., Dempsey, Jennifer C., Li, Xeuli, Golas, Gretchen, Vezina, Gilbert, Gunay-Aygun, Meral, Hanover, John A., Doherty, Dan, He, Miao, Malicdan, May Christine V., Gahl, William A., Boerkoel, Cornelius F.

المساهمون: National Human Genome Research Institute, National Institute of Child Health and Human Development, National Institute for Neurological Defects and Stroke

المصدر: Cilia ; volume 6, issue 1 ; ISSN 2046-2530

مصطلحات موضوعية: Cell Biology

الإتاحة: https://doi.org/10.1186/s13630-017-0048-6Test

المؤلفون: Peng, Tao, Chanthaphavong, R. Savanh, Sun, Sijie, Trigilio, James A., Phasouk, Khamsone, Jin, Lei, Layton, Erik D., Li, Alvason Z., Correnti, Colin E., De van der Schueren, Willem, Vazquez, Julio, O’Day, Diana R., Glass, Ian A., Knipe, David M., Wald, Anna, Corey, Lawrence, Zhu, Jia

المساهمون: National Institutes of Health, James B. Pendleton Charitable Trust, Eunice Kennedy Shriver National Institute of Child Health and Human Development

المصدر: Journal of Experimental Medicine ; volume 214, issue 8, page 2315-2329 ; ISSN 0022-1007 1540-9538

الإتاحة: https://doi.org/10.1084/jem.20160581Test
https://rupress.org/jem/article-pdf/214/8/2315/1758057/jem_20160581.pdfTest

المؤلفون: O'Roak, Brian J., Vives, Laura, Fu, Wenqing, Egertson, Jarrett D., Stanaway, Ian B., Phelps, Ian G., Carvill, Gemma, Kumar, Akash, Lee, Choli, Ankenman, Katy, Munson, Jeff, Hiatt, Joseph B., Turner, Emily H., Levy, Roie, O'Day, Diana R., Krumm, Niklas, Coe, Bradley P., Martin, Beth K., Borenstein, Elhanan, Nickerson, Deborah A., Mefford, Heather C., Doherty, Dan, Akey, Joshua M., Bernier, Raphael, Eichler, Evan E., Shendure, Jay

المصدر: Science, 2012 Dec . 338(6114), 1619-1622.

الوصول الحر: http://dx.doi.org/10.1126/science.1227764Test

المؤلفون: Tuz, Karina, Bachmann-Gagescu, Ruxandra, O'Day, Diana R, Hua, Kiet, Isabella, Christine R, Phelps, Ian G, Stolarski, Allan E, O'Roak, Brian J, Dempsey, Jennifer C, Lourenco, Charles, Alswaid, Abdulrahman, Bönnemann, Carsten G, Medne, Livija, Nampoothiri, Sheela, Stark, Zornitza, Leventer, Richard J, Topçu, Meral, Cansu, Ali, Jagadeesh, Sujatha, Done, Stephen, Ishak, Gisele E, Glass, Ian A, Shendure, Jay, Neuhauss, Stephan C F, Haldeman-Englert, Chad R, Doherty, Dan, Ferland, Russell J

المصدر: Tuz, Karina; Bachmann-Gagescu, Ruxandra; O'Day, Diana R; Hua, Kiet; Isabella, Christine R; Phelps, Ian G; Stolarski, Allan E; O'Roak, Brian J; Dempsey, Jennifer C; Lourenco, Charles; Alswaid, Abdulrahman; Bönnemann, Carsten G; Medne, Livija; Nampoothiri, Sheela; Stark, Zornitza; Leventer, Richard J; Topçu, Meral; Cansu, Ali; Jagadeesh, Sujatha; Done, Stephen; Ishak, Gisele E; Glass, Ian A; Shendure, Jay; Neuhauss, Stephan C F; Haldeman-Englert, Chad R; Doherty, Dan; Ferland, Russell J (2014). Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. American Journal of Human Genetics, 94(1):62-72.

مصطلحات موضوعية: Institute of Medical Genetics, Institute of Molecular Life Sciences, 570 Life sciences, biology, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/99943/1/Tuz%20et%20al,%20Mutations%20in%20CSPP1.pdfTest; info:pmid/24360808; urn:issn:0002-9297

الإتاحة: https://doi.org/10.5167/uzh-9994310.1016/j.ajhg.2013.11.019Test
https://www.zora.uzh.ch/id/eprint/99943Test/
https://www.zora.uzh.ch/id/eprint/99943/1/Tuz%20et%20al,%20Mutations%20in%20CSPP1.pdfTest

المؤلفون: O'Roak, Brian J., Phelps, Ian G., O'Day, Diana R., Bachmann-Gagescu, Ruxandra, Stolarski, Allan E., Isabella, Christine R., Dempsey, Jennifer C., Lourenco, Charles, Alswaid, Abdulrahman, Boennemann, Carsten G., Tuz, Karma, TOPÇU, MERAL, Ferland, Russell J., Doherty, Dan, Haldeman-Englert, Chad R., Neuhauss, Stephan C. F., Shendure, Jay, Glass, Ian A., Ishak, Gisele E., Done, Stephen, Jagadeesh, Sujatha, CANSU, ALİ, Leventer, Richard J., Stark, Zornitza, Nampoothiri, Sheela, Medne, Livija, Hua, Kiet

العلاقة: e32ded64-ab32-4d76-9c24-d043fe6fd0d1; https://avesis.hacettepe.edu.tr/publication/details/e32ded64-ab32-4d76-9c24-d043fe6fd0d1/oaiTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2013.11.019Test
https://avesis.hacettepe.edu.tr/publication/details/e32ded64-ab32-4d76-9c24-d043fe6fd0d1/oaiTest

المؤلفون: Stratigopoulos, George, Martin Carli, Jayne F., O’Day, Diana R., Wang, Liheng, LeDuc, Charles A., Lanzano, Patricia, Chung, Wendy K., Rosenbaum, Michael, Egli, Dieter, Doherty, Daniel A., Leibel, Rudolph L.

المصدر: Cell Metabolism ; volume 19, issue 5, page 767-779 ; ISSN 1550-4131

مصطلحات موضوعية: Cell Biology, Molecular Biology, Physiology

الإتاحة: https://doi.org/10.1016/j.cmet.2014.04.009Test
https://api.elsevier.com/content/article/PII:S1550413114001739?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1550413114001739?httpAccept=text/plainTest

المؤلفون: Aldinger, Kimberly A., Mosca, Stephen J., Tétreault, Martine, Dempsey, Jennifer C., Ishak, Gisele E., Hartley, Taila, Phelps, Ian G., Lamont, Ryan E., O’Day, Diana R., Basel, Donald, Gripp, Karen W., Baker, Laura, Stephan, Mark J., Bernier, Francois P., Boycott, Kym M., Majewski, Jacek, Parboosingh, Jillian S., Innes, A. Micheil, Doherty, Dan

المصدر: The American Journal of Human Genetics ; volume 95, issue 4, page 472 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2014.08.012Test
https://api.elsevier.com/content/article/PII:S0002929714003826?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929714003826?httpAccept=text/plainTest