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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor beta Signaling
| dc.contributor.author | Johnson, B. V. | |
| dc.contributor.author | Kumar, R. | |
| dc.contributor.author | Oishi, S. | |
| dc.contributor.author | López Otín, Carlos | |
| dc.contributor.author | Santiago Fernández, Olaya | |
| dc.date.accessioned | 2019-11-14T10:22:12Z | |
| dc.date.available | 2019-11-14T10:22:12Z | |
| dc.date.issued | 2019 | |
| dc.identifier.citation | Biological Psychiatry, 87(2), p. 100-112 (2019); doi:10.1016/j.biopsych.2019.05.028 | |
| dc.identifier.issn | 0006-3223 | |
| dc.identifier.uri | http://hdl.handle.net/10651/53247 | |
| dc.description.sponsorship | This work was supported by Simons Foundation Autism Research Initiative (SFARI Explorer Grant No. 527556 to [MPi, SW, LJ]), Australian Research Council (Grant No. ARC DE160100620 [to LJ]), the National Health and Medical Research Council of Australia (Program Grant No. 628952 and Research Fellowship 1041920 [to JG]), National Institute of Health (Grant NO. R01MH107182 [to PP]). USA 26 was evaluated through the Duke Genome Sequencing Clinic, supported by the Duke University Health System and partially funded by UCB Celltech. CL-O and OS-F were supported by Programa EDP SOLIDARIA 2016 (Fundacion EDP). DCK, DB, and TMM were supported by The Research Institute, Nationwide Children's Hospital. TMP was funded by the Cedars-Sinai Diana and Steve Marienhoff Fashion Industries Guild Endowed Fellowship in Pediatric Neuromuscular Diseases and the Undiagnosed Diseases Program. The DDD study presents independent research commissioned by the Health Innovation Challenge Fund (Grant No. HICF-1009-003), a parallel funding partnership between Wellcome and the Department of Health, and the Wellcome Sanger Institute (Grant No. WT098051). The views expressed in this publication are those of the author(s) and not necessarily those of Wellcome or the Department of Health. The study has UK Research Ethics Committee approval (10/H0305/83, granted by the Cambridge South REC, and GEN/284/12 granted by the Republic of Ireland REC). The research team acknowledges the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network. | |
| dc.description.statementofresponsibility | Johnson, BV; Kumar, R; Oishi, S; Alexander, S; Kasherman, M; Vega, MS; Ivancevic, A; Gardner, A; Domingo, D; Corbett, M; Parnell, E; Yoon, S; Oh, T; Lines, M; Lefroy, H; Kini, U; Van Allen, M; Gronborg, S; Mercier, S; Kury, S; Bezieau, S; Pasquier, L; Raynaud, M; Afenjar, A; de Villemeur, TB; Keren, B; Desir, J; Van Maldergem, L; Marangoni, M; Dikow, N; Koolen, DA; VanHasselt, PM; Weiss, M; Zwijnenburg, P; Sa, J; Reis, CF; Lopez-Otin, C; Santiago-Fernandez, O; Fernandez-Jaen, A; Rauch, A; Steindl, K; Joset, P; Goldstein, A; Madan-Khetarpal, S; Infante, E; Zackai, E; Mcdougall, C; Narayanan, V; Ramsey, K; Mercimek-Andrews, S; Pena, L; Shashi, V; Schoch, K; Sullivan, JA; Vairo, FPE; Pichurin, PN; Ewing, SA; Barnett, SS; Klee, EW; Perry, MS; Koenig, MK; Keegan, CE; Schuette, JL; Asher, S; Perilla-Young, Y; Smith, LD; Rosenfeld, JA; Bhoj, E; Kaplan, P; Li, D; Oegema, R; van Binsbergen, E; van der Zwaag, B; Smeland, MF; Cutcutache, I; Page, M; Armstrong, M; Lin, AE; Steeves, MA; den Hollander, N; Hoffer, MJV; Reijnders, MRF; Demirdas, S; Koboldt, DC; Bartholomew, D; Mosher, TM; Hickey, SE; Shieh, C; Sanchez-Lara, PA; Graham, JM; Tezcan, K; Schaefer, GB; Danylchuk, NR; Asamoah, A; Jackson, KE; Yachelevich, N; Au, M; Perez-Jurado, LA; Kleefstra, T; Penzes, P; Wood, SA; Burne, T; Pierson, TM; Piper, M; Gecz, J; Jolly, LA; Acosta, MT; Adams, DR; Aday, A; Alejandro, ME; Allard, P; Ashley, EA; Azamian, MS; Bacino, CA; Bademci, G; Baker, E; Balasubramanyam, A; Baldridge, D; Barbouth, D; Batzli, GF; Beggs, AH; Bellen, HJ; Bernstein, JA; Berry, GT; Bican, A; Bick, DP; Birch, CL; Bivona, S; Bonnenmann, C; Bonner, D; Boone, BE; Bostwick, BL; Briere, LC; Brokamp, E; Brown, DM; Brush, M; Burke, EA; Burrage, LC; Butte, MJ; Carrasquillo, O; Chang, TCP; Chao, HT; Clark, GD; Coakley, TR; Cobban, LA; Cogan, JD; Cole, FS; Colley, HA; Cooper, CM; Cope, H; Craigen, WJ; D'Souza, P; Dasari, S; Davids, M; Davidson, JM; Dayal, JG; Dell'Angelica, EC; Dhar, SU; Dorrani, N; Dorset, DC; Douine, ED; Draper, DD; Dries, AM; Duncan, L; Eckstein, DJ; Emrick, LT; Eng, CM; Enns, GM; Esteves, C; Estwick, T; Fernandez, L; Ferreira, C; Fieg, EL; Fisher, PG; Fogel, BL; Forghani, I; Friedman, ND; Gahl, WA; Godfrey, RA; Goldman, AM; Goldstein, DB; Gourdine, JPF; Grajewski, A; Groden, CA; Gropman, AL; Haendel, M; Hamid, R; Hanchard, NA; High, F; Holm, IA; Hom, J; Huang, A; Huang, Y; Isasi, R; Jamal, F; Jiang, YH; Johnston, JM; Jones, AL; Karaviti, L; Kelley, EG; Koeller, DM; Kohane, IS; Kohler, JN; Krakow, D; Krasnewich, DM; Korrick, S; Koziura, M; Krier, JB; Kyle, JE; Lalani, SR; Lam, B; Lanpher, BC; Lanza, IR; Lau, CC; Lazar, J; LeBlanc, K; Lee, BH; Lee, H; Levitt, R; Levy, SE; Lewis, RA; Lincoln, SA; Liu, PF; Liu, XZ; Loo, SK; Loscalzo, J; Maas, RL; Macnamara, EF; MacRae, CA; Maduro, VV; Majcherska, MM; Malicdan, MCV; Mamounas, LA; Manolio, TA; Markello, TC; Marom, R; Martin, MG; Martinez-Agosto, JA; Marwaha, S; May, T; McCauley, J; McConkie-Rosell, A; McCormack, CE; McCray, AT; Merker, JD; Metz, TO; Might, M; Morava-Kozicz, E; Moretti, PM; Morimoto, M; Mulvihill, JJ; Murdock, DR; Nath, A; Nelson, SF; Newberry, JS; Newman, JH; Nicholas, SK; Novacic, D; Oglesbee, D; Orengo, JP; Pak, S; Pallais, JC; Palmer, CGS; Papp, JC; Parker, NH; Phillips, JA; Posey, JE; Postlethwait, JH; Potocki, L; Pusey, BN; Renteri, G; Reuter, CM; Rives, L; Robertson, AK; Rodan, LH; Rowley, RK; Sacco, R; Sampson, JB; Samson, SL; Saporta, M; Schaechter, J; Schedl, T; Scott, DA; Shakachite, L; Sharma, P; Shields, K; Shin, J; Signer, R; Sillari, CH; Silverman, EK; Sinsheimer, JS; Smith, KS; Solnica-Krezel, L; Spillmann, RC; Stoler, JM; Stong, N; Sweetser, DA; Tamburro, CP; Tan, QKG; Tekin, M; Telischi, F; Thorson, W; Tifft, CJ; Toro, C; Tran, AA; Urv, TK; Vogel, TP; Waggott, DM; Wahl, CE; Walley, NM; Walsh, CA; Walker, M; Wambach, J; Wan, J; Wang, LK; Wangler, MF; Ward, PA; Waters, KM; Bobbie-Jo, M; Webb-Robertson; Wegner, D; Field, MW; Wheeler, MT; Wise, AL; Wolfe, LA; Woods, JD; Worthey, EA; Yamamoto, S; Yang, J; Yoon, AJ; Yu, GY; Zastrow, DB; Zhao, CL; Zuchner, S Johnson, Brett, V; Kumar, Raman; Oishi, Sabrina; Alexander, Suzy; Kasherman, Maria; Vega, Michelle Sanchez; Ivancevic, Atma; Gardner, Alison; Domingo, Deepti; Corbett, Mark; Parnell, Euan; Yoon, Sehyoun; Oh, Tracey; Lines, Matthew; Lefroy, Henrietta; Kini, Usha; Van Allen, Margot; Gronborg, Sabine; Mercier, Sandra; Kury, Sebastien; Bezieau, Stephane; Pasquier, Laurent; Raynaud, Martine; Afenjar, Alexandra; de Villemeur, Thierry Billette; Keren, Boris; Desir, Julie; Van Maldergem, Lionel; Marangoni, Martina; Dikow, Nicola; Koolen, David A.; VanHasselt, Peter M.; Weiss, Marjan; Zwijnenburg, Petra; Sa, Joaquim; Reis, Claudia Falcao; Lopez-Otin, Carlos; Santiago-Fernandez, Olaya; Fernandez-Jaen, Alberto; Rauch, Anita; Steindl, Katharina; Joset, Pascal; Goldstein, Amy; Madan-Khetarpal, Suneeta; Infante, Elena; Zackai, Elaine; Mcdougall, Carey; Narayanan, Vinodh; Ramsey, Keri; Mercimek-Andrews, Saadet; Pena, Loren; Shashi, Vandana; Schoch, Kelly; Sullivan, Jennifer A.; E Vairo, Filippo Pinto; Pichurin, Pavel N.; Ewing, Sarah A.; Barnett, Sarah S.; Klee, Eric W.; Perry, M. Scott; Koenig, Mary Kay; Keegan, Catherine E.; Schuette, Jane L.; Asher, Stephanie; Perilla-Young, Yezmin; Smith, Laurie D.; Rosenfeld, Jill A.; Bhoj, Elizabeth; Kaplan, Paige; Li, Dong; Oegema, Renske; van Binsbergen, Ellen; van der Zwaag, Bert; Smeland, Marie Falkenberg; Cutcutache, Ioana; Page, Matthew; Armstrong, Martin; Lin, Angela E.; Steeves, Marcie A.; den Hollander, Nicolette; Hoffer, Mariette J., V; Reijnders, Margot R. F.; Demirdas, Serwet; Koboldt, Daniel C.; Bartholomew, Dennis; Mosher, Theresa Mihalic; Hickey, Scott E.; Shieh, Christine; Sanchez-Lara, Pedro A.; Graham, John M., Jr.; Tezcan, Kamer; Schaefer, G. B.; Danylchuk, Noelle R.; Asamoah, Alexander; Jackson, Kelly E.; Yachelevich, Naomi; Au, Margaret; Perez-Jurado, Luis A.; Kleefstra, Tjitske; Penzes, Peter; Wood, Stephen A.; Burne, Thomas; Pierson, Tyler Mark; Piper, Michael; Gecz, Jozef; Jolly, Lachlan A.; Acosta, Maria T.; Adams, David R.; Aday, Aaron; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Barbouth, Deborah; Batzli, Gabriel F.; Beggs, Alan H.; Bellen, Hugo J.; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bick, David P.; Birch, Camille L.; Bivona, Stephanie; Bonnenmann, Carsten; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Briere, Lauren C.; Brokamp, Elly; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; D'Souza, Precilla; Dasari, Surendra; Davids, Mariska; Davidson, Jean M.; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Dries, Annika M.; Duncan, Laura; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Enns, Gregory M.; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Friedman, Noah D.; Gahl, William A.; Godfrey, Rena A.; Goldman, Alica M.; Goldstein, David B.; Gourdine, Jean-Philippe F.; Grajewski, Alana; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; High, Frances; Holm, Ingrid A.; Hom, Jason; Huang, Alden; Huang, Yong; Isasi, Rosario; Jamal, Fariha; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Karaviti, Lefkothea; Kelley, Emily G.; Koeller, David M.; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Kyle, Jennifer E.; Lalani, Seema R.; Lam, Byron; Lanpher, Brendan C.; Lanza, Ian R.; Lau, C. Christopher; Lazar, Jozef; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Levy, Shawn E.; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Malicdan, May Christine, V; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Marom, Ronit; Martin, Martin G.; Martinez-Agosto, Julian A.; Marwaha, Shruti; May, Thomas; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; Merker, Jason D.; Metz, Thomas O.; Might, Matthew; Morava-Kozicz, Eva; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Nath, Avi; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Renteri, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rowley, Robb K.; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Scott, Daryl A.; Shakachite, Lisa; Sharma, Prashant; Shields, Kathleen; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Spillmann, Rebecca C.; Stoler, Joan M.; Stong, Nicholas; Sweetser, David A.; Tamburro, Cecelia P.; Tan, Queenie K-G; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Vogel, Tiphanie P.; Waggott, Daryl M.; Wahl, Colleen E.; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Waters, Katrina M.; Bobbie-Jo, M.; Webb-Robertson; Wegner, Daniel; Field, Monte Wester; Wheeler, Matthew T.; Wise, Anastasia L.; Wolfe, Lynne A.; Woods, Jeremy D.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, John; Yoon, Amanda J.; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zuchner, Stephan | |
| dc.format.extent | p. 100-112 | |
| dc.language.iso | eng | |
| dc.relation.ispartof | Biological Psychiatry | |
| dc.rights | © 2019 Society of Biological Psychiatry. | |
| dc.source | Scopus | |
| dc.source.uri | https://www2.scopus.com/inward/record.uri?eid=2-s2.0-85070835300&doi=10.1016%2fj.biopsych.2019.05.028&partnerID=40&md5=2f638966147f6ae49a1e523f9ff6529c | |
| dc.title | Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor beta Signaling | |
| dc.type | journal article | |
| dc.identifier.doi | 10.1016/j.biopsych.2019.05.028 | |
| dc.relation.publisherversion | http://dx.doi.org/10.1016/j.biopsych.2019.05.028 |
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