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Tambakis, G.; Okano, S.; Hartel, G.; Kumar, R.; Goetz, N.; Etchegary, A.; Phillips, J.; Croft, A.; Valery, P.; Radford-Smith, G. L.; Walker, G. Share Save Share Save Unmasking the faces of Severe Colitis: A data-driven approach to defining Ulcerative Colitis phenotypes and predicting clinical outcomesEtchegaray, A.; Goetz, N.; Okano, S.; Hartel, G.; Hanigan, K.; Phillips, J.; Kumar, R.; Tambakis, G.; Brown, A.; Radford-Smith, G.; Walker, G.; Croft, A. Share Save Share Save Share Save Share Save Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopmentBhattacharjee, Rudrarup; Jolly, Lachlan A.; Corbett, Mark A.; Wee, Ing Chee; Rao, Sushma R.; Gardner, Alison E.; Ritchie, Tarin; van Hugte, Eline J. H.; Ciptasari, Ummi; Piltz, Sandra; Noll, Jacqueline E.; Nazri, Nazzmer; van Eyk, Clare L.; White, Melissa; Fornarino, Dani; Poulton, Cathryn; Baynam, Gareth; Collins-Praino, Lyndsey E.; Snel, Marten F.; Nadif Kasri, Nael; Hemsley, Kim M.; Thomas, Paul Q.; Kumar, Raman; Gecz, Jozef Share Save Share Save Share Save Share Save Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variantsPham, Duyen H.; Pitman, Melissa R.; Kumar, Raman; Jolly, Lachlan A.; Schulz, Renee; Gardner, Alison E.; de Nys, Rebekah; Heron, Sarah E.; Corbett, Mark A.; Kothur, Kavitha; Gill, Deepak; Rajagopalan, Sulekha; Kolc, Kristy L.; Halliday, Benjamin J.; Robertson, Stephen P.; Regan, Brigid M.; Kirsch, Heidi E.; Berkovic, Samuel F.; Scheffer, Ingrid E.; Pitson, Stuart M.; Petrovski, Slave; Gecz, Jozef Share Save Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disabilityField, Michael J.; Kumar, Raman; Hackett, Anna; Kayumi, Sayaka; Shoubridge, Cheryl A.; Ewans, Lisa J.; Ivancevic, Atma M.; Dudding-Byth, Tracy; Carroll, Renee; Kroes, Thessa; Gardner, Alison E.; Sullivan, Patricia; Ha, Thuong T.; Schwartz, Charles E.; Cowley, Mark J.; Dinger, Marcel E.; Palmer, Elizabeth E.; Christie, Louise; Shaw, Marie; Roscioli, Tony; Gecz, Jozef; Corbett, Mark A. Share Save RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial FeaturesPalmer, Elizabeth E.; Carroll, Renee; Shaw, Marie; Kumar, Raman; Minoche, Andre E.; Leffler, Melanie; Murray, Lucinda; Macintosh, Rebecca; Wright, Dale; Troedson, Chris; McKenzie, Fiona; Townshend, Sharron; Ward, Michelle; Nawaz, Urwah; Ravine, Anja; Runke, Cassandra K.; Thorland, Erik C.; Hummel, Marybeth; Foulds, Nicola; Pichon, Olivier; Isidor, Bertrand; Le Caignec, Cedric; Demeer, Benedicte; Andrieux, Joris; Albarazi, Salam Hadah; Bye, Ann; Sachdev, Rani; Kirk, Edwin P.; Cowley, Mark J.; Field, Mike; Gecz, Jozef Share Save A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsyKolc, Kristy L.; Sadleir, Lynette G.; Depienne, Christel; Marini, Carla; Scheffer, Ingrid E.; Moller, Rikke S.; Trivisano, Marina; Specchio, Nicola; Pham, Duyen; Kumar, Raman; Roberts, Rachel; Gecz, Jozef Share Save Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β SignalingJohnson, 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 Share Save Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disabilityMattioli, Francesca; Isidor, Bertrand; Abdul-Rahman, Omar; Gunter, Andrew; Huang, Lijia; Kumar, Raman; Beaulieu, Chandree; Gecz, Jozef; Innes, Micheil; Mandel, Jean-Louis; Piton, Amelie Share Save Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machineryKumar, Raman; Gardner, Alison; Homan, Claire C.; Douglas, Evelyn; Mefford, Heather; Wieczorek, Dagmar; Luedecke, Hermann-Josef; Stark, Zornitza; Sadedin, Simon; Nowak, Catherine Bearce; Douglas, Jessica; Parsons, Gretchen; Mark, Paul; Loidi, Lourdes; Herman, Gail E.; Mihalic Mosher, Theresa; Gillespie, Meredith K.; Brady, Lauren; Tarnopolsky, Mark; Madrigal, Irene; Eiris, Jesus; Domenech Salgado, Laura; Rabionet, Raquel; Strom, Tim M.; Ishihara, Naoko; Inagaki, Hidehito; Kurahashi, Hiroki; Dudding-Byth, Tracy; Palmer, Elizabeth E.; Field, Michael; Gecz, Jozef Share Save Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 EpilepsyPederick, Daniel T.; Richards, Kay L.; Piltz, Sandra G.; Kumar, Raman; Mincheva-Tasheva, Stefka; Mandelstam, Simone A.; Dale, Russell C.; Scheffer, Ingrid E.; Gecz, Jozef; Petrou, Steven; Hughes, James N.; Thomas, Paul Q. 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