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Rebecca Willaert
nyu langone medical center
20H指数
52论文数
1.3K被引数
收录论文 18
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Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.png)
NATURE GENETICS.png)
2022-10-04
11
OAAI
Sormann, Janina; Schewe, Marcus; Proks, Peter; Jouen-Tachoire, Thibault; Rao, Shanlin; Riel, Elena B.; Agre, Katherine E.; Begtrup, Amber; Dean, John; Descartes, Maria; Fischer, Jan; Gardham, Alice; Lahner, Carrie; Mark, Paul R.; Muppidi, Srikanth; Pichurin, Pavel N.; Porrmann, Joseph; Schallner, Jens; Smith, Kirstin; Straub, Volker; Vasudevan, Pradeep; Willaert, Rebecca; Carpenter, Elisabeth P.; Rodstrom, Karin E. J.; Hahn, Michael G.; Mueller, Thomas; Baukrowitz, Thomas; Hurles, Matthew E.; Wright, Caroline F.; Tucker, Stephen J.
NATURE GENETICSIF31.8
2022-10-0411OAAISormann, Janina; Schewe, Marcus; Proks, Peter; Jouen-Tachoire, Thibault; Rao, Shanlin; Riel, Elena B.; Agre, Katherine E.; Begtrup, Amber; Dean, John; Descartes, Maria; Fischer, Jan; Gardham, Alice; Lahner, Carrie; Mark, Paul R.; Muppidi, Srikanth; Pichurin, Pavel N.; Porrmann, Joseph; Schallner, Jens; Smith, Kirstin; Straub, Volker; Vasudevan, Pradeep; Willaert, Rebecca; Carpenter, Elisabeth P.; Rodstrom, Karin E. J.; Hahn, Michael G.; Mueller, Thomas; Baukrowitz, Thomas; Hurles, Matthew E.; Wright, Caroline F.; Tucker, Stephen J..png){kind=icon}
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收藏Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndromeGENOME MEDICINE2022-06-1310OAAICousin, Margot A.; Veale, Emma L.; Dsouza, Nikita R.; Tripathi, Swarnendu; Holden, Robyn G.; Arelin, Maria; Beek, Geoffrey; Bekheirnia, Mir Reza; Beygo, Jasmin; Bhambhani, Vikas; Bialer, Martin; Bigoni, Stefania; Boelman, Cyrus; Carmichael, Jenny; Courtin, Thomas; Cogne, Benjamin; Dabaj, Ivana; Doummar, Diane; Fazilleau, Laura; Ferlini, Alessandra; Gavrilova, Ralitza H.; Graham, John M., Jr.; Haack, Tobias B.; Juusola, Jane; Kant, Sarina G.; Kayani, Saima; Keren, Boris; Ketteler, Petra; Kloeckner, Chiara; Koopmann, Tamara T.; Kruisselbrink, Teresa M.; Kuechler, Alma; Lambert, Laetitia; Latypova, Xenia; Lebel, Robert Roger; Leduc, Magalie S.; Leonardi, Emanuela; Lewis, Andrea M.; Liew, Wendy; Machol, Keren; Mardini, Samir; McWalter, Kirsty; Mignot, Cyril; McLaughlin, Julie; Murgia, Alessandra; Narayanan, Vinodh; Nava, Caroline; Neuser, Sonja; Nizon, Mathilde; Ognibene, Davide; Park, Joohyun; Platzer, Konrad; Poirsier, Celine; Radtke, Maximilian; Ramsey, Keri; Runke, Cassandra K.; Sacoto, Maria J. Guillen; Scaglia, Fernando; Shinawi, Marwan; Spranger, Stephanie; Tan, Ee Shien; Taylor, John; Trentesaux, Anne-Sophie; Vairo, Filippo; Willaert, Rebecca; Zadeh, Neda; Urrutia, Raul; Babovic-Vuksanovic, Dusica; Zimmermann, Michael T.; Mathie, Alistair; Klee, Eric W.
GENOME MEDICINEIF11.2
2022-06-1310OAAICousin, Margot A.; Veale, Emma L.; Dsouza, Nikita R.; Tripathi, Swarnendu; Holden, Robyn G.; Arelin, Maria; Beek, Geoffrey; Bekheirnia, Mir Reza; Beygo, Jasmin; Bhambhani, Vikas; Bialer, Martin; Bigoni, Stefania; Boelman, Cyrus; Carmichael, Jenny; Courtin, Thomas; Cogne, Benjamin; Dabaj, Ivana; Doummar, Diane; Fazilleau, Laura; Ferlini, Alessandra; Gavrilova, Ralitza H.; Graham, John M., Jr.; Haack, Tobias B.; Juusola, Jane; Kant, Sarina G.; Kayani, Saima; Keren, Boris; Ketteler, Petra; Kloeckner, Chiara; Koopmann, Tamara T.; Kruisselbrink, Teresa M.; Kuechler, Alma; Lambert, Laetitia; Latypova, Xenia; Lebel, Robert Roger; Leduc, Magalie S.; Leonardi, Emanuela; Lewis, Andrea M.; Liew, Wendy; Machol, Keren; Mardini, Samir; McWalter, Kirsty; Mignot, Cyril; McLaughlin, Julie; Murgia, Alessandra; Narayanan, Vinodh; Nava, Caroline; Neuser, Sonja; Nizon, Mathilde; Ognibene, Davide; Park, Joohyun; Platzer, Konrad; Poirsier, Celine; Radtke, Maximilian; Ramsey, Keri; Runke, Cassandra K.; Sacoto, Maria J. Guillen; Scaglia, Fernando; Shinawi, Marwan; Spranger, Stephanie; Tan, Ee Shien; Taylor, John; Trentesaux, Anne-Sophie; Vairo, Filippo; Willaert, Rebecca; Zadeh, Neda; Urrutia, Raul; Babovic-Vuksanovic, Dusica; Zimmermann, Michael T.; Mathie, Alistair; Klee, Eric W.分享收藏Expanding the phenotypic spectrum of ARCN1-related syndromeGENETICS IN MEDICINE2022-06-015OAAIRitter, Alyssa L.; Gold, Jessica; Hayashi, Hiroshi; Ackermann, Amanda M.; Hanke, Stephanie; Skraban, Cara; Cuddapah, Sanmati; Bhoj, Elizabeth; Li, Dong; Kuroda, Yukiko; Wen, Jessica; Takeda, Ryojun; Bibb, Audrey; El Chehadeh, Salima; Piton, Amelie; Ohl, Jeanine; Kukolich, Mary K.; Nagasaki, Keisuke; Kato, Kohji; Ogi, Tomoo; Bhatti, Tricia; Russo, Pierre; Krock, Bryan; Murrell, Jill R.; Sullivan, Jennifer A.; Shashi, Vandana; Stong, Nicholas; Hakonarson, Hakon; Sawano, Kentaro; Torti, Erin; Willaert, Rebecca; Si, Yue; Wilcox, William Ross; Wirgenes, Katrine Verena; Thomassen, Kristian; Carlotti, Katherine; Erwin, Angelika; Lazier, Joanna; Marquardt, Thorsten; He, Miao; Edmondson, Andrew C.; Izumi, Kosuke
GENETICS IN MEDICINEIF6.2
2022-06-015OAAIRitter, Alyssa L.; Gold, Jessica; Hayashi, Hiroshi; Ackermann, Amanda M.; Hanke, Stephanie; Skraban, Cara; Cuddapah, Sanmati; Bhoj, Elizabeth; Li, Dong; Kuroda, Yukiko; Wen, Jessica; Takeda, Ryojun; Bibb, Audrey; El Chehadeh, Salima; Piton, Amelie; Ohl, Jeanine; Kukolich, Mary K.; Nagasaki, Keisuke; Kato, Kohji; Ogi, Tomoo; Bhatti, Tricia; Russo, Pierre; Krock, Bryan; Murrell, Jill R.; Sullivan, Jennifer A.; Shashi, Vandana; Stong, Nicholas; Hakonarson, Hakon; Sawano, Kentaro; Torti, Erin; Willaert, Rebecca; Si, Yue; Wilcox, William Ross; Wirgenes, Katrine Verena; Thomassen, Kristian; Carlotti, Katherine; Erwin, Angelika; Lazier, Joanna; Marquardt, Thorsten; He, Miao; Edmondson, Andrew C.; Izumi, Kosuke分享收藏A Neurostimulation-Triggered Trigeminal Neuralgia-like Pain Risk Factors and Management2021-10-012
OAAITorrealba-Acosta, Gabriel; Butt, Haroon; Edmondson, Everton A.; Willaert, Rebecca; Viswanathan, Ashwin; Goldman, Alica M.
2021-10-012OAAITorrealba-Acosta, Gabriel; Butt, Haroon; Edmondson, Everton A.; Willaert, Rebecca; Viswanathan, Ashwin; Goldman, Alica M.分享收藏Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to painPRKAR1B的变异导致自闭症谱系障碍，失用症和对疼痛不敏感的神经发育障碍GENETICS IN MEDICINE2021-08-0115OAAIMarbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A.; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A.; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F.; Martinez-Agosto, Julian A.; Palmer, Christina G. S.; Signer, Rebecca H.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Daya, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldrich, Madison P.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Huryn, Laryssa; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Karaviti, Lefkothea; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Krier, Joel B.; LaMoure, Grace L.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latham, Lea; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; MacDowall, John; MacRae, Calum A.; Macnamara, Ellen F.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan C.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martinez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Moretti, Paolo; Mosbrook-Davis, Deborah; Mulvihill, John J.; Murdock, David R.; Nagy, Anna; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Power, Bradley; Pusey, Barbara N.; Quinlan, Aaron; Raja, Archana N.; Rao, Deepak A.; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, C. Ron; Scott, Daryl A.; Shashi, Vandana; Shin, Jimann; Signer, Rebecca H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Ben Solomon; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Amelia L. M.; Tan, Queenie K. -G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Thurm, Audrey; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Yamamoto, Shinya; Yang, John; Yousef, Muhammad; Zastrow, Diane B.; Zein, Wadih; Zhao, Chunli; Zuchner, Stephan; Andrews, Marisa V.; Grange, Dorothy K.; Willaert, Rebecca; Person, Richard; Telegrafi, Aida; Sievers, Aaron; Laugsch, Magdalena; Theiss, Susanne; Cheng, YuZhu; Lichtarge, Olivier; Katsonis, Panagiotis; Stocco, Amber; Schaaf, Christian P.
GENETICS IN MEDICINEIF6.2
2021-08-0115OAAIMarbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A.; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A.; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F.; Martinez-Agosto, Julian A.; Palmer, Christina G. S.; Signer, Rebecca H.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Daya, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldrich, Madison P.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Huryn, Laryssa; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Karaviti, Lefkothea; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Krier, Joel B.; LaMoure, Grace L.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latham, Lea; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; MacDowall, John; MacRae, Calum A.; Macnamara, Ellen F.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan C.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martinez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Moretti, Paolo; Mosbrook-Davis, Deborah; Mulvihill, John J.; Murdock, David R.; Nagy, Anna; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Power, Bradley; Pusey, Barbara N.; Quinlan, Aaron; Raja, Archana N.; Rao, Deepak A.; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, C. Ron; Scott, Daryl A.; Shashi, Vandana; Shin, Jimann; Signer, Rebecca H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Ben Solomon; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Amelia L. M.; Tan, Queenie K. -G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Thurm, Audrey; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Yamamoto, Shinya; Yang, John; Yousef, Muhammad; Zastrow, Diane B.; Zein, Wadih; Zhao, Chunli; Zuchner, Stephan; Andrews, Marisa V.; Grange, Dorothy K.; Willaert, Rebecca; Person, Richard; Telegrafi, Aida; Sievers, Aaron; Laugsch, Magdalena; Theiss, Susanne; Cheng, YuZhu; Lichtarge, Olivier; Katsonis, Panagiotis; Stocco, Amber; Schaaf, Christian P.分享收藏Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism2021-06-0117OAAIChopra, Maya; McEntagart, Meriel; Clayton-Smith, Jill; Platzer, Konrad; Shukla, Anju; Girisha, Katta M.; Kaur, Anupriya; Kaur, Parneet; Pfundt, Rolph; Veenstra-Knol, Hermine; Mancini, Grazia M. S.; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Kortuem, Fanny; Hempel, Maja; Denecke, Jonas; Lehman, Anna; Kleefstra, Tjitske; Stuurman, Kyra E.; Wilke, Martina; Thompson, Michelle L.; Bebin, E. Martina; Bijlsma, Emilia K.; Hoffer, Mariette J., V; Peeters-Scholte, Cacha; Slavotinek, Anne; Weiss, William A.; Yip, Tiffany; Hodoglugil, Ugur; Whittle, Amy; Monda, Janettedi; Neira, Juanita; Yang, Sandra; Kirby, Amelia; Pinz, Hailey; Lechner, Rosan; Sleutels, Frank; Helbig, Ingo; McKeown, Sarah; Helbig, Katherine; Willaert, Rebecca; Juusola, Jane; Semotok, Jennifer; Hadonou, Medard; Short, John; Yachelevich, Naomi; Lala, Sajel; Fernandez-Jaen, Alberto; Pelayo, Janvier Porta; Kloeckner, Chiara; Kamphausen, Susanne B.; Abou Jamra, Rami; Arelin, Maria; Innes, A. Micheil; Niskakoski, Anni; Amin, Sam; Williams, Maggie; Evans, Julie; Smithson, Sarah; Smedley, Damian; Burca, Annade; Kini, Usha; Delatycki, Martin B.; Gallacher, Lyndon; Yeung, Alison; Pais, Lynn; Field, Michael; Martin, Ellenore; Charles, Perrine; Courtin, Thomas; Keren, Boris; Iascone, Maria; Cereda, Anna; Poke, Gemma; Abadie, Veronique; Chalouhi, Christel; Parthasarathy, Padmini; Halliday, Benjamin J.; Robertson, Stephen P.; Lyonnet, Stanislas; Amiel, Jeanne; Gordon, Christopher T.
2021-06-0117OAAIChopra, Maya; McEntagart, Meriel; Clayton-Smith, Jill; Platzer, Konrad; Shukla, Anju; Girisha, Katta M.; Kaur, Anupriya; Kaur, Parneet; Pfundt, Rolph; Veenstra-Knol, Hermine; Mancini, Grazia M. S.; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Kortuem, Fanny; Hempel, Maja; Denecke, Jonas; Lehman, Anna; Kleefstra, Tjitske; Stuurman, Kyra E.; Wilke, Martina; Thompson, Michelle L.; Bebin, E. Martina; Bijlsma, Emilia K.; Hoffer, Mariette J., V; Peeters-Scholte, Cacha; Slavotinek, Anne; Weiss, William A.; Yip, Tiffany; Hodoglugil, Ugur; Whittle, Amy; Monda, Janettedi; Neira, Juanita; Yang, Sandra; Kirby, Amelia; Pinz, Hailey; Lechner, Rosan; Sleutels, Frank; Helbig, Ingo; McKeown, Sarah; Helbig, Katherine; Willaert, Rebecca; Juusola, Jane; Semotok, Jennifer; Hadonou, Medard; Short, John; Yachelevich, Naomi; Lala, Sajel; Fernandez-Jaen, Alberto; Pelayo, Janvier Porta; Kloeckner, Chiara; Kamphausen, Susanne B.; Abou Jamra, Rami; Arelin, Maria; Innes, A. Micheil; Niskakoski, Anni; Amin, Sam; Williams, Maggie; Evans, Julie; Smithson, Sarah; Smedley, Damian; Burca, Annade; Kini, Usha; Delatycki, Martin B.; Gallacher, Lyndon; Yeung, Alison; Pais, Lynn; Field, Michael; Martin, Ellenore; Charles, Perrine; Courtin, Thomas; Keren, Boris; Iascone, Maria; Cereda, Anna; Poke, Gemma; Abadie, Veronique; Chalouhi, Christel; Parthasarathy, Padmini; Halliday, Benjamin J.; Robertson, Stephen P.; Lyonnet, Stanislas; Amiel, Jeanne; Gordon, Christopher T.分享收藏A relatively common homozygousTRAPPC4splicing variant is associated with an early-infantile neurodegenerative syndrome2020-09-0815OAAIGhosh, Shereen G.; Scala, Marcello; Beetz, Christian; Helman, Guy; Stanley, Valentina; Yang, Xiaoxu; Breuss, Martin W.; Mazaheri, Neda; Selim, Laila; Hadipour, Fatemeh; Pais, Lynn; Stutterd, Chloe A.; Karageorgou, Vasiliki; Begtrup, Amber; Crunk, Amy; Juusola, Jane; Willaert, Rebecca; Flore, Leigh A.; Kennelly, Kelly; Spencer, Christopher; Brown, Martha; Trapane, Pamela; Hurst, Anna C. E.; Rutledge, S. Lane; Goodloe, Dana H.; McDonald, Marie T.; Shashi, Vandana; Schoch, Kelly; Tomoum, Hoda; Zaitoun, Raghda; Hadipour, Zahra; Galehdari, Hamid; Pagnamenta, Alistair T.; Mojarrad, Majid; Sedaghat, Alireza; Dias, Patricia; Quintas, Sofia; Eslahi, Atiyeh; Shariati, Gholamreza; Bauer, Peter; Simons, Cas; Houlden, Henry; Issa, Mahmoud Y.; Zaki, Maha S.; Maroofian, Reza; Gleeson, Joseph G.
2020-09-0815OAAIGhosh, Shereen G.; Scala, Marcello; Beetz, Christian; Helman, Guy; Stanley, Valentina; Yang, Xiaoxu; Breuss, Martin W.; Mazaheri, Neda; Selim, Laila; Hadipour, Fatemeh; Pais, Lynn; Stutterd, Chloe A.; Karageorgou, Vasiliki; Begtrup, Amber; Crunk, Amy; Juusola, Jane; Willaert, Rebecca; Flore, Leigh A.; Kennelly, Kelly; Spencer, Christopher; Brown, Martha; Trapane, Pamela; Hurst, Anna C. E.; Rutledge, S. Lane; Goodloe, Dana H.; McDonald, Marie T.; Shashi, Vandana; Schoch, Kelly; Tomoum, Hoda; Zaitoun, Raghda; Hadipour, Zahra; Galehdari, Hamid; Pagnamenta, Alistair T.; Mojarrad, Majid; Sedaghat, Alireza; Dias, Patricia; Quintas, Sofia; Eslahi, Atiyeh; Shariati, Gholamreza; Bauer, Peter; Simons, Cas; Houlden, Henry; Issa, Mahmoud Y.; Zaki, Maha S.; Maroofian, Reza; Gleeson, Joseph G.分享收藏Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literatureGENETICS IN MEDICINE2019-09-0124OAAITorti, Erin; Keren, Boris; Palmer, Elizabeth E.; Zhu, Zehua; Afenjar, Alexandra; Anderson, Ilse J.; Andrews, Marisa, V; Atkinson, Celia; Au, Margaret; Berry, Susan A.; Bowling, Kevin M.; Boyle, Jackie; Buratti, Julien; Cathey, Sara S.; Charles, Perrine; Cogne, Benjamin; Courtin, Thomas; Escobar, Luis F.; Finley, Sabra Ledare; Graham, John M., Jr.; Grange, Dorothy K.; Heron, Delphine; Hewson, Stacy; Hiatt, Susan M.; Hibbs, Kathleen A.; Jayakar, Parul; Kalsner, Louisa; Larcher, Lise; Lesca, Gaetan; Mark, Paul R.; Miller, Kathryn; Nava, Caroline; Nizon, Mathilde; Pai, G. Shashidhar; Pappas, John; Parsons, Gretchen; Payne, Katelyn; Putoux, Audrey; Rabin, Rachel; Sabatier, Isabelle; Shinawi, Marwan; Shur, Natasha; Skinner, Steven A.; Valence, Stephanie; Warren, Hannah; Whalen, Sandra; Crunk, Amy; Douglas, Ganka; Monaghan, Kristin G.; Person, Richard E.; Willaert, Rebecca; Solomon, Benjamin D.; Juusola, Jane
GENETICS IN MEDICINEIF6.2
2019-09-0124OAAITorti, Erin; Keren, Boris; Palmer, Elizabeth E.; Zhu, Zehua; Afenjar, Alexandra; Anderson, Ilse J.; Andrews, Marisa, V; Atkinson, Celia; Au, Margaret; Berry, Susan A.; Bowling, Kevin M.; Boyle, Jackie; Buratti, Julien; Cathey, Sara S.; Charles, Perrine; Cogne, Benjamin; Courtin, Thomas; Escobar, Luis F.; Finley, Sabra Ledare; Graham, John M., Jr.; Grange, Dorothy K.; Heron, Delphine; Hewson, Stacy; Hiatt, Susan M.; Hibbs, Kathleen A.; Jayakar, Parul; Kalsner, Louisa; Larcher, Lise; Lesca, Gaetan; Mark, Paul R.; Miller, Kathryn; Nava, Caroline; Nizon, Mathilde; Pai, G. Shashidhar; Pappas, John; Parsons, Gretchen; Payne, Katelyn; Putoux, Audrey; Rabin, Rachel; Sabatier, Isabelle; Shinawi, Marwan; Shur, Natasha; Skinner, Steven A.; Valence, Stephanie; Warren, Hannah; Whalen, Sandra; Crunk, Amy; Douglas, Ganka; Monaghan, Kristin G.; Person, Richard E.; Willaert, Rebecca; Solomon, Benjamin D.; Juusola, Jane分享收藏AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disordersAMPA受体GluA2亚基缺陷是神经发育障碍的一个原因NATURE COMMUNICATIONS2019-07-12159OAAISalpietro, Vincenzo; Dixon, Christine L.; Guo, Hui; Bello, Oscar D.; Vandrovcova, Jana; Efthymiou, Stephanie; Maroofian, Reza; Heimer, Gali; Burglen, Lydie; Valence, Stephanie; Torti, Erin; Hacke, Moritz; Rankin, Julia; Tariq, Huma; Colin, Estelle; Procaccio, Vincent; Striano, Pasquale; Mankad, Kshitij; Lieb, Andreas; Chen, Sharon; Pisani, Laura; Bettencourt, Conceicao; Mannikko, Roope; Manole, Andreea; Brusco, Alfredo; Grosso, Enrico; Ferrero, Giovanni Battista; Armstrong-Moron, Judith; Gueden, Sophie; Bar-Yosef, Omer; Tzadok, Michal; Monaghan, Kristin G.; Santiago-Sim, Teresa; Person, Richard E.; Cho, Megan T.; Willaert, Rebecca; Yoo, Yongjin; Chae, Jong-Hee; Quan, Yingting; Wu, Huidan; Wang, Tianyun; Bernier, Raphael A.; Xia, Kun; Blesson, Alyssa; Jain, Mahim; Motazacker, Mohammad M.; Jaeger, Bregje; Schneider, Amy L.; Boysen, Katja; Muir, Alison M.; Myers, Candace T.; Gavrilova, Ralitza H.; Gunderson, Lauren; Schultz-Rogers, Laura; Klee, Eric W.; Dyment, David; Osmond, Matthew; Parellada, Mara; Llorente, Cloe; Gonzalez-Penas, Javier; Carracedo, Angel; Van Haeringen, Arie; Ruivenkamp, Claudia; Nava, Caroline; Heron, Delphine; Nardello, Rosaria; Iacomino, Michele; Minetti, Carlo; Skabar, Aldo; Fabretto, Antonella; Chez, Michael; Tsai, Anne; Fassi, Emily; Shinawi, Marwan; Constantino, John N.; De Zorzi, Rita; Fortuna, Sara; Kok, Fernando; Keren, Boris; Bonneau, Dominique; Choi, Murim; Benzeev, Bruria; Zara, Federico; Mefford, Heather C.; Scheffer, Ingrid E.; Clayton-Smith, Jill; Macaya, Alfons; Rothman, James E.; Eichler, Evan E.; Kullmann, Dimitri M.; Houlden, Henry; Raspall-Chaure, Miquel; Hanna, Michael G.; Bugiardini, Enrico; Hostettler, Isabel; O'Callaghan, Benjamin; Khan, Alaa; Cortese, Andrea; O'Connor, Emer; Yau, Wai Y.; Bourinaris, Thomas; Kaiyrzhanov, Rauan; Chelban, Viorica; Madej, Monika; Diana, Maria C.; Vari, Maria S.; Pedemonte, Marina; Bruno, Claudio; Balagura, Ganna; Scala, Marcello; Fiorillo, Chiara; Nobili, Lino; Malintan, Nancy T.; Zanetti, Maria N.; Krishnakumar, Shyam S.; Lignani, Gabriele; Jepson, James E. C.; Broda, Paolo; Baldassari, Simona; Rossi, Pia; Fruscione, Floriana; Madia, Francesca; Traverso, Monica; De-Marco, Patrizia; Perez-Duenas, Belen; Munell, Francina; Kriouile, Yamna; El-Khorassani, Mohamed; Karashova, Blagovesta; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Van-Maldergem, Lionel; Nachbauer, Wolfgang; Boesch, Sylvia; Gagliano, Antonella; Amadori, Elisabetta; Goraya, Jatinder S.; Sultan, Tipu; Kirmani, Salman; Ibrahim, Shahnaz; Jan, Farida; Mine, Jun; Banu, Selina; Veggiotti, Pierangelo; Zuccotti, Gian, V; Ferrari, Michel D.; Van Den Maagdenberg, Arn M. J.; Verrotti, Alberto; Marseglia, Gian L.; Savasta, Salvatore; Soler, Miguel A.; Scuderi, Carmela; Borgione, Eugenia; Chimenz, Roberto; Gitto, Eloisa; Dipasquale, Valeria; Sallemi, Alessia; Fusco, Monica; Cuppari, Caterina; Cutrupi, Maria C.; Ruggieri, Martino; Cama, Armando; Capra, Valeria; Mencacci, Niccolo E.; Boles, Richard; Gupta, Neerja; Kabra, Madhulika; Papacostas, Savvas; Zamba-Papanicolaou, Eleni; Dardiotis, Efthymios; Maqbool, Shazia; Rana, Nuzhat; Atawneh, Osama; Lim, Shen Y.; Shaikh, Farooq; Koutsis, George; Breza, Marianthi; Coviello, Domenico A.; Dauvilliers, Yves A.; AlKhawaja, Issam; AlKhawaja, Mariam; Al-Mutairi, Fuad; Stojkovic, Tanya; Ferrucci, Veronica; Zollo, Massimo; Alkuraya, Fowzan S.; Kinali, Maria; Sherifa, Hamed; Benrhouma, Hanene; Turki, Ilhem B. Y.; Tazir, Meriem; Obeid, Makram; Bakhtadze, Sophia; Saadi, Nebal W.; Zaki, Maha S.; Triki, Chahnez C.; Benfenati, Fabio; Gustincich, Stefano; Kara, Majdi; Belcastro, Vincenzo; Specchio, Nicola; Capovilla, Giuseppe; Karimiani, Ehsan G.; Salih, Ahmed M.; Okubadejo, Njideka U.; Ojo, Oluwadamilola O.; Oshinaike, Olajumoke O.; Oguntunde, Olapeju; Wahab, Kolawole; Bello, Abiodun H.; Abubakar, Sanni; Obiabo, Yahaya; Nwazor, Ernest; Ekenze, Oluchi; Williams, Uduak; Iyagba, Alagoma; Taiwo, Lolade; Komolafe, Morenikeji; Senkevich, Konstantin; Shashkin, Chingiz; Zharkynbekova, Nazira; Koneyev, Kairgali; Manizha, Ganieva; Isrofilov, Maksud; Guliyeva, Ulviyya; Salayev, Kamran; Khachatryan, Samson; Rossi, Salvatore; Silvestri, Gabriella; Haridy, Nourelhoda; Ramenghi, Luca A.; Xiromerisiou, Georgia; David, Emanuele; Aguennouz, Mhammed; Fidani, Liana; Spanaki, Cleanthe; Tucci, Arianna
NATURE COMMUNICATIONSIF15.7
2019-07-12159OAAISalpietro, Vincenzo; Dixon, Christine L.; Guo, Hui; Bello, Oscar D.; Vandrovcova, Jana; Efthymiou, Stephanie; Maroofian, Reza; Heimer, Gali; Burglen, Lydie; Valence, Stephanie; Torti, Erin; Hacke, Moritz; Rankin, Julia; Tariq, Huma; Colin, Estelle; Procaccio, Vincent; Striano, Pasquale; Mankad, Kshitij; Lieb, Andreas; Chen, Sharon; Pisani, Laura; Bettencourt, Conceicao; Mannikko, Roope; Manole, Andreea; Brusco, Alfredo; Grosso, Enrico; Ferrero, Giovanni Battista; Armstrong-Moron, Judith; Gueden, Sophie; Bar-Yosef, Omer; Tzadok, Michal; Monaghan, Kristin G.; Santiago-Sim, Teresa; Person, Richard E.; Cho, Megan T.; Willaert, Rebecca; Yoo, Yongjin; Chae, Jong-Hee; Quan, Yingting; Wu, Huidan; Wang, Tianyun; Bernier, Raphael A.; Xia, Kun; Blesson, Alyssa; Jain, Mahim; Motazacker, Mohammad M.; Jaeger, Bregje; Schneider, Amy L.; Boysen, Katja; Muir, Alison M.; Myers, Candace T.; Gavrilova, Ralitza H.; Gunderson, Lauren; Schultz-Rogers, Laura; Klee, Eric W.; Dyment, David; Osmond, Matthew; Parellada, Mara; Llorente, Cloe; Gonzalez-Penas, Javier; Carracedo, Angel; Van Haeringen, Arie; Ruivenkamp, Claudia; Nava, Caroline; Heron, Delphine; Nardello, Rosaria; Iacomino, Michele; Minetti, Carlo; Skabar, Aldo; Fabretto, Antonella; Chez, Michael; Tsai, Anne; Fassi, Emily; Shinawi, Marwan; Constantino, John N.; De Zorzi, Rita; Fortuna, Sara; Kok, Fernando; Keren, Boris; Bonneau, Dominique; Choi, Murim; Benzeev, Bruria; Zara, Federico; Mefford, Heather C.; Scheffer, Ingrid E.; Clayton-Smith, Jill; Macaya, Alfons; Rothman, James E.; Eichler, Evan E.; Kullmann, Dimitri M.; Houlden, Henry; Raspall-Chaure, Miquel; Hanna, Michael G.; Bugiardini, Enrico; Hostettler, Isabel; O'Callaghan, Benjamin; Khan, Alaa; Cortese, Andrea; O'Connor, Emer; Yau, Wai Y.; Bourinaris, Thomas; Kaiyrzhanov, Rauan; Chelban, Viorica; Madej, Monika; Diana, Maria C.; Vari, Maria S.; Pedemonte, Marina; Bruno, Claudio; Balagura, Ganna; Scala, Marcello; Fiorillo, Chiara; Nobili, Lino; Malintan, Nancy T.; Zanetti, Maria N.; Krishnakumar, Shyam S.; Lignani, Gabriele; Jepson, James E. C.; Broda, Paolo; Baldassari, Simona; Rossi, Pia; Fruscione, Floriana; Madia, Francesca; Traverso, Monica; De-Marco, Patrizia; Perez-Duenas, Belen; Munell, Francina; Kriouile, Yamna; El-Khorassani, Mohamed; Karashova, Blagovesta; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Van-Maldergem, Lionel; Nachbauer, Wolfgang; Boesch, Sylvia; Gagliano, Antonella; Amadori, Elisabetta; Goraya, Jatinder S.; Sultan, Tipu; Kirmani, Salman; Ibrahim, Shahnaz; Jan, Farida; Mine, Jun; Banu, Selina; Veggiotti, Pierangelo; Zuccotti, Gian, V; Ferrari, Michel D.; Van Den Maagdenberg, Arn M. J.; Verrotti, Alberto; Marseglia, Gian L.; Savasta, Salvatore; Soler, Miguel A.; Scuderi, Carmela; Borgione, Eugenia; Chimenz, Roberto; Gitto, Eloisa; Dipasquale, Valeria; Sallemi, Alessia; Fusco, Monica; Cuppari, Caterina; Cutrupi, Maria C.; Ruggieri, Martino; Cama, Armando; Capra, Valeria; Mencacci, Niccolo E.; Boles, Richard; Gupta, Neerja; Kabra, Madhulika; Papacostas, Savvas; Zamba-Papanicolaou, Eleni; Dardiotis, Efthymios; Maqbool, Shazia; Rana, Nuzhat; Atawneh, Osama; Lim, Shen Y.; Shaikh, Farooq; Koutsis, George; Breza, Marianthi; Coviello, Domenico A.; Dauvilliers, Yves A.; AlKhawaja, Issam; AlKhawaja, Mariam; Al-Mutairi, Fuad; Stojkovic, Tanya; Ferrucci, Veronica; Zollo, Massimo; Alkuraya, Fowzan S.; Kinali, Maria; Sherifa, Hamed; Benrhouma, Hanene; Turki, Ilhem B. Y.; Tazir, Meriem; Obeid, Makram; Bakhtadze, Sophia; Saadi, Nebal W.; Zaki, Maha S.; Triki, Chahnez C.; Benfenati, Fabio; Gustincich, Stefano; Kara, Majdi; Belcastro, Vincenzo; Specchio, Nicola; Capovilla, Giuseppe; Karimiani, Ehsan G.; Salih, Ahmed M.; Okubadejo, Njideka U.; Ojo, Oluwadamilola O.; Oshinaike, Olajumoke O.; Oguntunde, Olapeju; Wahab, Kolawole; Bello, Abiodun H.; Abubakar, Sanni; Obiabo, Yahaya; Nwazor, Ernest; Ekenze, Oluchi; Williams, Uduak; Iyagba, Alagoma; Taiwo, Lolade; Komolafe, Morenikeji; Senkevich, Konstantin; Shashkin, Chingiz; Zharkynbekova, Nazira; Koneyev, Kairgali; Manizha, Ganieva; Isrofilov, Maksud; Guliyeva, Ulviyya; Salayev, Kamran; Khachatryan, Samson; Rossi, Salvatore; Silvestri, Gabriella; Haridy, Nourelhoda; Ramenghi, Luca A.; Xiromerisiou, Georgia; David, Emanuele; Aguennouz, Mhammed; Fidani, Liana; Spanaki, Cleanthe; Tucci, Arianna分享收藏Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder2019-02-0147OAAIGanapathi, Mythily; Padgett, Leah R.; Yamada, Kentaro; Devinsky, Orrin; Willaert, Rebecca; Person, Richard; Au, Ping-Yee Billie; Tagoe, Julia; McDonald, Marie; Karlowicz, Danielle; Wolf, Barry; Lee, Joanna; Shen, Yufeng; Okur, Volkan; Deng, Liyong; LeDuc, Charles A.; Wang, Jiayao; Hanner, Ashleigh; Mirmira, Raghavendra G.; Park, Myung Hee; Mastracci, Teresa L.; Chung, Wendy K.
2019-02-0147OAAIGanapathi, Mythily; Padgett, Leah R.; Yamada, Kentaro; Devinsky, Orrin; Willaert, Rebecca; Person, Richard; Au, Ping-Yee Billie; Tagoe, Julia; McDonald, Marie; Karlowicz, Danielle; Wolf, Barry; Lee, Joanna; Shen, Yufeng; Okur, Volkan; Deng, Liyong; LeDuc, Charles A.; Wang, Jiayao; Hanner, Ashleigh; Mirmira, Raghavendra G.; Park, Myung Hee; Mastracci, Teresa L.; Chung, Wendy K.分享收藏De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delayPLOS GENETICS2018-11-3019OAAIHiatt, Susan M.; Neu, Matthew B.; Ramaker, Ryne C.; Hardigan, Andrew A.; Prokop, Jeremy W.; Hancarova, Miroslava; Prchalova, Darina; Havlovicova, Marketa; Prchal, Jan; Stranecky, Viktor; Yim, Dwight K. C.; Powis, Zoe; Keren, Boris; Nava, Caroline; Mignot, Cyril; Rio, Marlene; Revah-Politi, Anya; Hemati, Parisa; Stong, Nicholas; Iglesias, Alejandro D.; Suchy, Sharon F.; Willaert, Rebecca; Wentzensen, Ingrid M.; Wheeler, Patricia G.; Brick, Lauren; Kozenko, Mariya; Hurst, Anna C. E.; Wheless, James W.; Lacassie, Yves; Myers, Richard M.; Barsh, Gregory S.; Sedlacek, Zdenek; Cooper, Gregory M.
PLOS GENETICSIF3.7
2018-11-3019OAAIHiatt, Susan M.; Neu, Matthew B.; Ramaker, Ryne C.; Hardigan, Andrew A.; Prokop, Jeremy W.; Hancarova, Miroslava; Prchalova, Darina; Havlovicova, Marketa; Prchal, Jan; Stranecky, Viktor; Yim, Dwight K. C.; Powis, Zoe; Keren, Boris; Nava, Caroline; Mignot, Cyril; Rio, Marlene; Revah-Politi, Anya; Hemati, Parisa; Stong, Nicholas; Iglesias, Alejandro D.; Suchy, Sharon F.; Willaert, Rebecca; Wentzensen, Ingrid M.; Wheeler, Patricia G.; Brick, Lauren; Kozenko, Mariya; Hurst, Anna C. E.; Wheless, James W.; Lacassie, Yves; Myers, Richard M.; Barsh, Gregory S.; Sedlacek, Zdenek; Cooper, Gregory M.分享收藏Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies2018-05-0165OAAICheng, Hanyin; Dharmadhikari, Avinash V.; Varland, Sylvia; Ma, Ning; Domingo, Deepti; Kleyner, Robert; Rope, Alan F.; Yoon, Margaret; Stray-Pedersen, Asbjorg; Posey, Jennifer E.; Crews, Sarah R.; Eldomery, Mohammad K.; Akdemir, Zeynep Coban; Lewis, Andrea M.; Sutton, Vernon R.; Rosenfeld, Jill A.; Conboy, Erin; Agre, Katherine; Xia, Fan; Walkiewicz, Magdalena; Longoni, Mauro; High, Frances A.; van Slegtenhorst, Marjon A.; Mancini, Grazia M. S.; Finnila, Candice R.; van Haeringen, Arie; den Hollander, Nicolette; Ruivenkamp, Claudia; Naidu, Sakkubai; Mahida, Sonal; Palmer, Elizabeth E.; Murray, Lucinda; Lim, Derek; Jayakar, Parul; Parker, Michael J.; Giusto, Stefania; Stracuzzi, Emanuela; Romano, Corrado; Beighley, Jennifer S.; Bernier, Raphael A.; Kury, Sebastien; Nizon, Mathilde; Corbett, Mark A.; Shaw, Marie; Gardner, Alison; Barnett, Christopher; Armstrong, Ruth; Kassahn, Karin S.; Van Dijck, Anke; Vandeweyer, Geert; Kleefstra, Tjitske; Schieving, Jolanda; Jongmans, Marjolijn J.; de Vries, Bert B. A.; Pfundt, Rolph; Kerr, Bronwyn; Rojas, Samantha K.; Boycott, Kym M.; Person, Richard; Willaert, Rebecca; Eichler, Evan E.; Kooy, R. Frank; Yang, Yaping; Wu, Joseph C.; Lupski, James R.; Arnesen, Thomas; Cooper, Gregory M.; Chung, Wendy K.; Gecz, Jozef; Stessman, Holly A. F.; Meng, Linyan; Lyon, Gholson J.
2018-05-0165OAAICheng, Hanyin; Dharmadhikari, Avinash V.; Varland, Sylvia; Ma, Ning; Domingo, Deepti; Kleyner, Robert; Rope, Alan F.; Yoon, Margaret; Stray-Pedersen, Asbjorg; Posey, Jennifer E.; Crews, Sarah R.; Eldomery, Mohammad K.; Akdemir, Zeynep Coban; Lewis, Andrea M.; Sutton, Vernon R.; Rosenfeld, Jill A.; Conboy, Erin; Agre, Katherine; Xia, Fan; Walkiewicz, Magdalena; Longoni, Mauro; High, Frances A.; van Slegtenhorst, Marjon A.; Mancini, Grazia M. S.; Finnila, Candice R.; van Haeringen, Arie; den Hollander, Nicolette; Ruivenkamp, Claudia; Naidu, Sakkubai; Mahida, Sonal; Palmer, Elizabeth E.; Murray, Lucinda; Lim, Derek; Jayakar, Parul; Parker, Michael J.; Giusto, Stefania; Stracuzzi, Emanuela; Romano, Corrado; Beighley, Jennifer S.; Bernier, Raphael A.; Kury, Sebastien; Nizon, Mathilde; Corbett, Mark A.; Shaw, Marie; Gardner, Alison; Barnett, Christopher; Armstrong, Ruth; Kassahn, Karin S.; Van Dijck, Anke; Vandeweyer, Geert; Kleefstra, Tjitske; Schieving, Jolanda; Jongmans, Marjolijn J.; de Vries, Bert B. A.; Pfundt, Rolph; Kerr, Bronwyn; Rojas, Samantha K.; Boycott, Kym M.; Person, Richard; Willaert, Rebecca; Eichler, Evan E.; Kooy, R. Frank; Yang, Yaping; Wu, Joseph C.; Lupski, James R.; Arnesen, Thomas; Cooper, Gregory M.; Chung, Wendy K.; Gecz, Jozef; Stessman, Holly A. F.; Meng, Linyan; Lyon, Gholson J.分享收藏Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia2018-05-0149OAAIGuissart, Claire; Latypova, Xenia; Rollier, Paul; Khan, Tahir N.; Stamberger, Hannah; McWalter, Kirsty; Cho, Megan T.; Kjaergaard, Susanne; Weckhuysen, Sarah; Lesca, Gaetan; Besnard, Thomas; Ounap, Katrin; Schema, Lynn; Chiocchetti, Andreas G.; McDonald, Marie; de Bellescize, Julitta; Vincent, Marie; Van Esch, Hilde; Sattler, Shannon; Forghani, Irman; Thiffault, Isabelle; Freitag, Christine M.; Barbouth, Deborah Sara; Cadieux-Dion, Maxime; Willaert, Rebecca; Sacoto, Maria J. Guillen; Safina, Nicole P.; Dubourg, Christele; Grote, Lauren; Carre, Wilfrid; Saunders, Carol; Pajusalu, Sander; Farrow, Emily; Boland, Anne; Karlowicz, Danielle Hays; Deleuze, Jean-Francois; Wojcik, Monica H.; Pressman, Rena; Isidor, Bertrand; Vogels, Annick; Van Paesschen, Wim; Al-Gazali, Lihadh; Al Shamsi, Aisha Mohamed; Claustres, Mireille; Pujol, Aurora; Sanders, Stephan J.; Rivier, Francois; Leboucq, Nicolas; Cogne, Benjamin; Sasorith, Souphatta; Sanlaville, Damien; Retterer, Kyle; Odent, Sylvie; Katsanis, Nicholas; Bezieau, Stephane; Koenig, Michel; Davis, Erica E.; Pasquier, Laurent; Kury, Sebastien
2018-05-0149OAAIGuissart, Claire; Latypova, Xenia; Rollier, Paul; Khan, Tahir N.; Stamberger, Hannah; McWalter, Kirsty; Cho, Megan T.; Kjaergaard, Susanne; Weckhuysen, Sarah; Lesca, Gaetan; Besnard, Thomas; Ounap, Katrin; Schema, Lynn; Chiocchetti, Andreas G.; McDonald, Marie; de Bellescize, Julitta; Vincent, Marie; Van Esch, Hilde; Sattler, Shannon; Forghani, Irman; Thiffault, Isabelle; Freitag, Christine M.; Barbouth, Deborah Sara; Cadieux-Dion, Maxime; Willaert, Rebecca; Sacoto, Maria J. Guillen; Safina, Nicole P.; Dubourg, Christele; Grote, Lauren; Carre, Wilfrid; Saunders, Carol; Pajusalu, Sander; Farrow, Emily; Boland, Anne; Karlowicz, Danielle Hays; Deleuze, Jean-Francois; Wojcik, Monica H.; Pressman, Rena; Isidor, Bertrand; Vogels, Annick; Van Paesschen, Wim; Al-Gazali, Lihadh; Al Shamsi, Aisha Mohamed; Claustres, Mireille; Pujol, Aurora; Sanders, Stephan J.; Rivier, Francois; Leboucq, Nicolas; Cogne, Benjamin; Sasorith, Souphatta; Sanlaville, Damien; Retterer, Kyle; Odent, Sylvie; Katsanis, Nicholas; Bezieau, Stephane; Koenig, Michel; Davis, Erica E.; Pasquier, Laurent; Kury, Sebastien分享收藏Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy2017-10-0540OAAIPeng, Yanyan; Shinde, Deepali N.; Valencia, C. Alexander; Mo, Jun-Song; Rosenfeld, Jill; Cho, Megan Truitt; Chamberlin, Adam; Li, Zhuo; Liu, Jie; Gui, Baoheng; Brockhage, Rachel; Basinger, Alice; Alvarez-Leon, Brenda; Heydemann, Peter; Magoulas, Pilar L.; Lewis, Andrea M.; Scaglia, Fernando; Gril, Solange; Chong, Shuk Ching; Bower, Matthew; Monaghan, Kristin G.; Willaert, Rebecca; Plona, Maria-Renee; Dineen, Rich; Milan, Francisca; Hoganson, George; Powis, Zoe; Helbig, Katherine L.; Keller-Ramey, Jennifer; Harris, Belinda; Anderson, Laura C.; Green, Torrian; Rizzo, Stacey J. Sukoff; Kaylor, Julie; Chen, Jiani; Guan, Min-Xin; Sellars, Elizabeth; Sparagana, Steven P.; Gibson, James B.; Reinholdt, Laura G.; Tang, Sha; Huang, Taosheng
2017-10-0540OAAIPeng, Yanyan; Shinde, Deepali N.; Valencia, C. Alexander; Mo, Jun-Song; Rosenfeld, Jill; Cho, Megan Truitt; Chamberlin, Adam; Li, Zhuo; Liu, Jie; Gui, Baoheng; Brockhage, Rachel; Basinger, Alice; Alvarez-Leon, Brenda; Heydemann, Peter; Magoulas, Pilar L.; Lewis, Andrea M.; Scaglia, Fernando; Gril, Solange; Chong, Shuk Ching; Bower, Matthew; Monaghan, Kristin G.; Willaert, Rebecca; Plona, Maria-Renee; Dineen, Rich; Milan, Francisca; Hoganson, George; Powis, Zoe; Helbig, Katherine L.; Keller-Ramey, Jennifer; Harris, Belinda; Anderson, Laura C.; Green, Torrian; Rizzo, Stacey J. Sukoff; Kaylor, Julie; Chen, Jiani; Guan, Min-Xin; Sellars, Elizabeth; Sparagana, Steven P.; Gibson, James B.; Reinholdt, Laura G.; Tang, Sha; Huang, Taosheng分享收藏GABBR2 Mutations Determine Phenotype in Rett Syndrome and Epileptic EncephalopathyANNALS OF NEUROLOGY2017-09-2263Yoo, Yongjin; Jung, Jane; Lee, Yoo-Na; Lee, Youngha; Cho, Hyosuk; Na, Eunjung; Hong, JeaYeok; Kim, Eunjin; Lee, Jin Sook; Lee, Je Sang; Hong, Chansik; Park, Sang-Yoon; Wie, Jinhong; Miller, Kathryn; Shur, Natasha; Clow, Cheryl; Ebel, Roseanne S.; DeBrosse, Suzanne D.; Henderson, Lindsay B.; Willaert, Rebecca; Castaldi, Christopher; Tikhonova, Irina; Bilguvar, Kaya; Mane, Shrikant; Kim, Ki Joong; Hwang, Yong Seung; Lee, Seok-Geun; So, Insuk; Lim, Byung Chan; Choi, Hee-Jung; Seong, Jae Young; Shin, Yong Beom; Jung, Hosung; Chae, Jong-Hee; Choi, Murim
ANNALS OF NEUROLOGYIF7.7
2017-09-2263PREAI
Yoo, Yongjin; Jung, Jane; Lee, Yoo-Na; Lee, Youngha; Cho, Hyosuk; Na, Eunjung; Hong, JeaYeok; Kim, Eunjin; Lee, Jin Sook; Lee, Je Sang; Hong, Chansik; Park, Sang-Yoon; Wie, Jinhong; Miller, Kathryn; Shur, Natasha; Clow, Cheryl; Ebel, Roseanne S.; DeBrosse, Suzanne D.; Henderson, Lindsay B.; Willaert, Rebecca; Castaldi, Christopher; Tikhonova, Irina; Bilguvar, Kaya; Mane, Shrikant; Kim, Ki Joong; Hwang, Yong Seung; Lee, Seok-Geun; So, Insuk; Lim, Byung Chan; Choi, Hee-Jung; Seong, Jae Young; Shin, Yong Beom; Jung, Hosung; Chae, Jong-Hee; Choi, Murim分享收藏Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy2017-03-0152OAAIOsborn, Daniel P. S.; Pond, Heather L.; Mazaheri, Neda; Dejardin, Jeremy; Munn, Christopher J.; Mushref, Khaloob; Cauley, Edmund S.; Moroni, Isabella; Pasanisi, Maria Barbara; Sellars, Elizabeth A.; Hill, R. Sean; Partlow, Jennifer N.; Willaert, Rebecca K.; Bharj, Jaipreet; Malamiri, Reza Azizi; Galehdari, Hamid; Shariati, Gholamreza; Maroofian, Reza; Mora, Marina; Swan, Laura E.; Voit, Thomas; Conti, Francesco J.; Jamshidi, Yalda; Manzini, M. Chiara
2017-03-0152OAAIOsborn, Daniel P. S.; Pond, Heather L.; Mazaheri, Neda; Dejardin, Jeremy; Munn, Christopher J.; Mushref, Khaloob; Cauley, Edmund S.; Moroni, Isabella; Pasanisi, Maria Barbara; Sellars, Elizabeth A.; Hill, R. Sean; Partlow, Jennifer N.; Willaert, Rebecca K.; Bharj, Jaipreet; Malamiri, Reza Azizi; Galehdari, Hamid; Shariati, Gholamreza; Maroofian, Reza; Mora, Marina; Swan, Laura E.; Voit, Thomas; Conti, Francesco J.; Jamshidi, Yalda; Manzini, M. Chiara分享收藏De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic featuresHUMAN GENETICS2016-04-0568Okur, Volkan; Cho, Megan T.; Henderson, Lindsay; Retterer, Kyle; Schneider, Michael; Sattler, Shannon; Niyazov, Dmitriy; Azage, Meron; Smith, Sharon; Picker, Jonathan; Lincoln, Sharyn; Tarnopolsky, Mark; Brady, Lauren; Bjornsson, Hans T.; Applegate, Carolyn; Dameron, Amy; Willaert, Rebecca; Baskin, Berivan; Juusola, Jane; Chung, Wendy K.
HUMAN GENETICSIF3.6
2016-04-0568PREAI
Okur, Volkan; Cho, Megan T.; Henderson, Lindsay; Retterer, Kyle; Schneider, Michael; Sattler, Shannon; Niyazov, Dmitriy; Azage, Meron; Smith, Sharon; Picker, Jonathan; Lincoln, Sharyn; Tarnopolsky, Mark; Brady, Lauren; Bjornsson, Hans T.; Applegate, Carolyn; Dameron, Amy; Willaert, Rebecca; Baskin, Berivan; Juusola, Jane; Chung, Wendy K.分享收藏Leukolysin and asthma2006-02-010OAAIBlumenthal, MN; Lind, G; Willaert, R; Miller, M; King, R; Oetting, W; Pei, D
2006-02-010OAAIBlumenthal, MN; Lind, G; Willaert, R; Miller, M; King, R; Oetting, W; Pei, D分享收藏