Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

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; Grønborg, Sabine; Mercier, Sandra; Küry, Sébastien; Bézieau, Stéphane; Pasquier, Laurent; Raynaud, Martine; Afenjar, Alexandra; Billette de Villemeur, Thierry; Keren, Boris; Désir, Julie; Van Maldergem, Lionel; Marangoni, Martina; Dikow, Nicola; Koolen, David A.; VanHasselt, Peter M.; Weiss, Marjan; Zwijnenburg, Petra; Sa, Joaquim; Reis, Claudia Falcao; López-Otín, Carlos; Santiago-Fernández, Olaya; Fernández-Jaén, 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.; Pinto e. Vairo, Filippo; 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.; Hollander, Nicolette den; Hoffer, Mariëtte 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.; Tezcan, Kamer; Schaefer, G. B.; Danylchuk, Noelle R.; Asamoah, Alexander; Jackson, Kelly E.; Yachelevich, Naomi; Au, Margaret; Pérez-Jurado, Luis A.; Kleefstra, Tjitske; Penzes, Peter; Wood, Stephen A.; Burne, Thomas; Pierson, Tyler Mark; Piper, Michael; Gécz, 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; Peter Chang, Ta Chen; 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.; Martínez-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.; 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.; Webb-Robertson, Bobbie-Jo M.; Wegner, Daniel; Westerfield, Monte; 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; Gahl, William

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Raman Sharma
Johnson et al., 2020

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Elsevier, Biological Psychiatry, 2(87), p. 100-112, 2020

DOI: 10.1016/j.biopsych.2019.05.028

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@article{Johnson2020,
  author = {Johnson, Brett V. and Kumar, Raman and Oishi, Sabrina and Alexander, Suzy and Kasherman, Maria and Vega, Michelle Sanchez and Ivancevic, Atma and Gardner, Alison and Domingo, Deepti and Corbett, Mark and Parnell, Euan and Yoon, Sehyoun and Oh, Tracey and Lines, Matthew and Lefroy, Henrietta and Kini, Usha and Van Allen, Margot and Grønborg, Sabine and Mercier, Sandra and Küry, Sébastien and Bézieau, Stéphane and Pasquier, Laurent and Raynaud, Martine and Afenjar, Alexandra and Billette de Villemeur, Thierry and Keren, Boris and Désir, Julie and Van Maldergem, Lionel and Marangoni, Martina and Dikow, Nicola and Koolen, David A. and VanHasselt, Peter M. and Weiss, Marjan and Zwijnenburg, Petra and Sa, Joaquim and Reis, Claudia Falcao and López-Otín, Carlos and Santiago-Fernández, Olaya and Fernández-Jaén, Alberto and Rauch, Anita and Steindl, Katharina and Joset, Pascal and Goldstein, Amy and Madan-Khetarpal, Suneeta and Infante, Elena and Zackai, Elaine and Mcdougall, Carey and Narayanan, Vinodh and Ramsey, Keri and Mercimek-Andrews, Saadet and Pena, Loren and Shashi, Vandana and Schoch, Kelly and Sullivan, Jennifer A. and Pinto e. Vairo, Filippo and Pichurin, Pavel N. and Ewing, Sarah A. and Barnett, Sarah S. and Klee, Eric W. and Perry, M. Scott and Koenig, Mary Kay and Keegan, Catherine E. and Schuette, Jane L. and Asher, Stephanie and Perilla-Young, Yezmin and Smith, Laurie D. and Rosenfeld, Jill A. and Bhoj, Elizabeth and Kaplan, Paige and Li, Dong and Oegema, Renske and van Binsbergen, Ellen and van der Zwaag, Bert and Smeland, Marie Falkenberg and Cutcutache, Ioana and Page, Matthew and Armstrong, Martin and Lin, Angela E. and Steeves, Marcie A. and Hollander, Nicolette den and Hoffer, Mariëtte J. V. and Reijnders, Margot R. F. and Demirdas, Serwet and Koboldt, Daniel C. and Bartholomew, Dennis and Mosher, Theresa Mihalic and Hickey, Scott E. and Shieh, Christine and Sanchez-Lara, Pedro A. and Graham, John M. and Tezcan, Kamer and Schaefer, G. B. and Danylchuk, Noelle R. and Asamoah, Alexander and Jackson, Kelly E. and Yachelevich, Naomi and Au, Margaret and Pérez-Jurado, Luis A. and Kleefstra, Tjitske and Penzes, Peter and Wood, Stephen A. and Burne, Thomas and Pierson, Tyler Mark and Piper, Michael and Gécz, Jozef and Jolly, Lachlan A. and Acosta, Maria T. and Adams, David R. and Aday, Aaron and Alejandro, Mercedes E. and Allard, Patrick and Ashley, Euan A. and Azamian, Mahshid S. and Bacino, Carlos A. and Bademci, Guney and Baker, Eva and Balasubramanyam, Ashok and Baldridge, Dustin and Barbouth, Deborah and Batzli, Gabriel F. and Beggs, Alan H. and Bellen, Hugo J. and Bernstein, Jonathan A. and Berry, Gerard T. and Bican, Anna and Bick, David P. and Birch, Camille L. and Bivona, Stephanie and Bonnenmann, Carsten and Bonner, Devon and Boone, Braden E. and Bostwick, Bret L. and Briere, Lauren C. and Brokamp, Elly and Brown, Donna M. and Brush, Matthew and Burke, Elizabeth A. and Burrage, Lindsay C. and Butte, Manish J. and Carrasquillo, Olveen and Peter Chang, Ta Chen and Chao, Hsiao-Tuan and Clark, Gary D. and Coakley, Terra R. and Cobban, Laurel A. and Cogan, Joy D. and Cole, F. Sessions and Colley, Heather A. and Cooper, Cynthia M. and Cope, Heidi and Craigen, William J. and D'Souza, Precilla and Dasari, Surendra and Davids, Mariska and Davidson, Jean M. and Dayal, Jyoti G. and Dell'Angelica, Esteban C. and Dhar, Shweta U. and Dorrani, Naghmeh and Dorset, Daniel C. and Douine, Emilie D. and Draper, David D. and Dries, Annika M. and Duncan, Laura and Eckstein, David J. and Emrick, Lisa T. and Eng, Christine M. and Enns, Gregory M. and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fieg, Elizabeth L. and Fisher, Paul G. and Fogel, Brent L. and Forghani, Irman and Friedman, Noah D. and Gahl, William A. and Godfrey, Rena A. and Goldman, Alica M. and Goldstein, David B. and Gourdine, Jean-Philippe F. and Grajewski, Alana and Groden, Catherine A. and Gropman, Andrea L. and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A. and High, Frances and Holm, Ingrid A. and Hom, Jason and Huang, Alden and Huang, Yong and Isasi, Rosario and Jamal, Fariha and Jiang, Yong-Hui and Johnston, Jean M. and Jones, Angela L. and Karaviti, Lefkothea and Kelley, Emily G. and Koeller, David M. and Kohane, Isaac S. and Kohler, Jennefer N. and Krakow, Deborah and Krasnewich, Donna M. and Korrick, Susan and Koziura, Mary and Krier, Joel B. and Kyle, Jennifer E. and Lalani, Seema R. and Lam, Byron and Lanpher, Brendan C. and Lanza, Ian R. and Lau, C. Christopher and Lazar, Jozef and LeBlanc, Kimberly and Lee, Brendan H. and Lee, Hane and Levitt, Roy and Levy, Shawn E. and Lewis, Richard A. and Lincoln, Sharyn A. and Liu, Pengfei and Liu, Xue Zhong and Loo, Sandra K. and Loscalzo, Joseph and Maas, Richard L. and Macnamara, Ellen F. and MacRae, Calum A. and Maduro, Valerie V. and Majcherska, Marta M. and Malicdan, May Christine V. and Mamounas, Laura A. and Manolio, Teri A. and Markello, Thomas C. and Marom, Ronit and Martin, Martin G. and Martínez-Agosto, Julian A. and Marwaha, Shruti and May, Thomas and McCauley, Jacob and McConkie-Rosell, Allyn and McCormack, Colleen E. and McCray, Alexa T. and Merker, Jason D. and Metz, Thomas O. and Might, Matthew and Morava-Kozicz, Eva and Moretti, Paolo M. and Morimoto, Marie and Mulvihill, John J. and Murdock, David R. and Nath, Avi and Nelson, Stan F. and Newberry, J. Scott and Newman, John H. and Nicholas, Sarah K. and Novacic, Donna and Oglesbee, Devin and Orengo, James P. and Pak, Stephen and Pallais, J. Carl and Palmer, Christina G.-S. and Papp, Jeanette C. and Parker, Neil H. and Phillips, John A. and Posey, Jennifer E. and Postlethwait, John H. and Potocki, Lorraine and Pusey, Barbara N. and Renteri, Genecee and Reuter, Chloe M. and Rives, Lynette and Robertson, Amy K. and Rodan, Lance H. and Rowley, Robb K. and Sacco, Ralph and Sampson, Jacinda B. and Samson, Susan L. and Saporta, Mario and Schaechter, Judy and Schedl, Timothy and Scott, Daryl A. and Shakachite, Lisa and Sharma, Prashant and Shields, Kathleen and Shin, Jimann and Signer, Rebecca and Sillari, Catherine H. and Silverman, Edwin K. and Sinsheimer, Janet S. and Smith, Kevin S. and Solnica-Krezel, Lilianna and Spillmann, Rebecca C. and Stoler, Joan M. and Stong, Nicholas and Sweetser, David A. and Tamburro, Cecelia P. and Tan, Queenie K.-G. and Tekin, Mustafa and Telischi, Fred and Thorson, Willa and Tifft, Cynthia J. and Toro, Camilo and Tran, Alyssa A. and Urv, Tiina K. and Vogel, Tiphanie P. and Waggott, Daryl M. and Wahl, Colleen E. and Walley, Nicole M. and Walsh, Chris A. and Walker, Melissa and Wambach, Jennifer and Wan, Jijun and Wang, Lee-Kai and Wangler, Michael F. and Ward, Patricia A. and Waters, Katrina M. and Webb-Robertson, Bobbie-Jo M. and Wegner, Daniel and Westerfield, Monte and Wheeler, Matthew T. and Wise, Anastasia L. and Wolfe, Lynne A. and Woods, Jeremy D. and Worthey, Elizabeth A. and Yamamoto, Shinya and Yang, John and Yoon, Amanda J. and Yu, Guoyun and Zastrow, Diane B. and Zhao, Chunli and Zuchner, Stephan and Gahl, William},
  doi = {10.1016/j.biopsych.2019.05.028},
  journal = {Biological Psychiatry},
  month = {jan},
  pages = {100-112},
  title = {Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling},
  url = {https://oadoi.org/10.1016/j.biopsych.2019.05.028},
  volume = {87},
  year = {2020}
}

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