日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Role of CAMK2D in neurodevelopment and associated conditions

CAMK2D在神经发育及相关疾病中的作用

Rigter, Pomme M F; de Konink, Charlotte; Dunn, Matthew J; Proietti Onori, Martina; Humberson, Jennifer B; Thomas, Matthew; Barnes, Caitlin; Prada, Carlos E; Weaver, K Nicole; Ryan, Thomas D; Caluseriu, Oana; Conway, Jennifer; Calamaro, Emily; Fong, Chin-To; Wuyts, Wim; Meuwissen, Marije; Hordijk, Eva; Jonkers, Carsten N; Anderson, Lucas; Yuseinova, Berfin; Polonia, Sarah; Beysen, Diane; Stark, Zornitza; Savva, Elena; Poulton, Cathryn; McKenzie, Fiona; Bhoj, Elizabeth; Bupp, Caleb P; Bézieau, Stéphane; Mercier, Sandra; Blevins, Amy; Wentzensen, Ingrid M; Xia, Fan; Rosenfeld, Jill A; Hsieh, Tzung-Chien; Krawitz, Peter M; Elbracht, Miriam; Veenma, Danielle C M; Schulman, Howard; Stratton, Margaret M; Küry, Sébastien; van Woerden, Geeske M

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype

进一步阐明 AUTS2 HX 重复结构域相关表型

Erdogan, Esin Nur; Cheng, Chi Vicky; Caraffi, Stefano G; Ivanovski, Ivan; Piatelli, Gianluca; Errichiello, Edoardo; Papavasiliou, Antigone S; Vasileiou, Georgia; Reis, André; Prince, Bradley; Hickey, Scott E; Koboldt, Daniel C; Schneider, Michael C; Porrmann, Joseph; Di Donato, Nataliya; Leis, Thomas; Perry, M Scott; Humberson, Jennifer; Rotenberg, Joshua; Bakhtiari, Somayeh; Magee, Helen; Kheradmand, Shaydah; Kruer, Michael C; Swale, Andrew; Weber, Astrid; Landes, Caren; Zuffardi, Orsetta; Garavelli, Livia; van Haeringen, Arie; Ruivenkamp, Claudia A L; Pauly, Melissa; Au, Ping Yee Billie; Dobyns, William B; Aldinger, Kimberly A

Role of CAMK2D in neurodevelopment and associated conditions

CAMK2D在神经发育及相关疾病中的作用

Pomme M F Rigter ,Charlotte de Konink ,Matthew J Dunn ,Martina Proietti Onori ,Jennifer B Humberson ,Matthew Thomas ,Caitlin Barnes ,Carlos E Prada ,K Nicole Weaver ,Thomas D Ryan ,Oana Caluseriu ,Jennifer Conway ,Emily Calamaro ,Chin-To Fong ,Wim Wuyts ,Marije Meuwissen ,Eva Hordijk ,Carsten N Jonkers ,Lucas Anderson ,Berfin Yuseinova ,Sarah Polonia ,Diane Beysen ,Zornitza Stark ,Elena Savva ,Cathryn Poulton ,Fiona McKenzie ,Elizabeth Bhoj ,Caleb P Bupp ,Stéphane Bézieau ,Sandra Mercier ,Amy Blevins ,Ingrid M Wentzensen ,Fan Xia ,Jill A Rosenfeld ,Tzung-Chien Hsieh ,Peter M Krawitz ,Miriam Elbracht ,Danielle C M Veenma ,Howard Schulman ,Margaret M Stratton ,Sébastien Küry ,Geeske M van Woerden

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

杂合子功能缺失型SMC3变异与不同的生长发育特征相关。

Ansari, Morad; Faour, Kamli N W; Shimamura, Akiko; Grimes, Graeme; Kao, Emeline M; Denhoff, Erica R; Blatnik, Ana; Ben-Isvy, Daniel; Wang, Lily; Helm, Benjamin M; Firth, Helen; Breman, Amy M; Bijlsma, Emilia K; Iwata-Otsubo, Aiko; de Ravel, Thomy J L; Fusaro, Vincent; Fryer, Alan; Nykamp, Keith; Stühn, Lara G; Haack, Tobias B; Korenke, G Christoph; Constantinou, Panayiotis; Bujakowska, Kinga M; Low, Karen J; Place, Emily; Humberson, Jennifer; Napier, Melanie P; Hoffman, Jessica; Juusola, Jane; Deardorff, Matthew A; Shao, Wanqing; Rockowitz, Shira; Krantz, Ian; Kaur, Maninder; Raible, Sarah; Dortenzio, Victoria; Kliesch, Sabine; Singer-Berk, Moriel; Groopman, Emily; DiTroia, Stephanie; Ballal, Sonia; Srivastava, Siddharth; Rothfelder, Kathrin; Biskup, Saskia; Rzasa, Jessica; Kerkhof, Jennifer; McConkey, Haley; Sadikovic, Bekim; Hilton, Sarah; Banka, Siddharth; Tüttelmann, Frank; Conrad, Donald F; O'Donnell-Luria, Anne; Talkowski, Michael E; FitzPatrick, David R; Boone, Philip M

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

杂合子功能缺失型SMC3变异与生长发育特征的变异性和不完全外显率相关。

Ansari, Morad; Faour, Kamli N W; Shimamura, Akiko; Grimes, Graeme; Kao, Emeline M; Denhoff, Erica R; Blatnik, Ana; Ben-Isvy, Daniel; Wang, Lily; Helm, Benjamin M; Firth, Helen; Breman, Amy M; Bijlsma, Emilia K; Iwata-Otsubo, Aiko; de Ravel, Thomy J L; Fusaro, Vincent; Fryer, Alan; Nykamp, Keith; Stühn, Lara G; Haack, Tobias B; Korenke, G Christoph; Constantinou, Panayiotis; Bujakowska, Kinga M; Low, Karen J; Place, Emily; Humberson, Jennifer; Napier, Melanie P; Hoffman, Jessica; Juusola, Jane; Deardorff, Matthew A; Shao, Wanqing; Rockowitz, Shira; Krantz, Ian; Kaur, Maninder; Raible, Sarah; Kliesch, Sabine; Singer-Berk, Moriel; Groopman, Emily; DiTroia, Stephanie; Ballal, Sonia; Srivastava, Siddharth; Rothfelder, Kathrin; Biskup, Saskia; Rzasa, Jessica; Kerkhof, Jennifer; McConkey, Haley; O'Donnell-Luria, Anne; Sadikovic, Bekim; Hilton, Sarah; Banka, Siddharth; Tüttelmann, Frank; Conrad, Donald; Talkowski, Michael E; FitzPatrick, David R; Boone, Philip M

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

基因检测在指导癫痫治疗管理中的应用:一项国际临床实践研究

McKnight, Dianalee; Morales, Ana; Hatchell, Kathryn E; Bristow, Sara L; Bonkowsky, Joshua L; Perry, Michael Scott; Berg, Anne T; Borlot, Felippe; Esplin, Edward D; Moretz, Chad; Angione, Katie; Ríos-Pohl, Loreto; Nussbaum, Robert L; Aradhya, Swaroop; Haldeman-Englert, Chad R; Levy, Rebecca J; Parachuri, Venu G; Lay-Son, Guillermo; de Montellano, David J Dávila-Ortiz; Ramirez-Garcia, Miguel Angel; Benítez Alonso, Edmar O; Ziobro, Julie; Chirita-Emandi, Adela; Felix, Temis M; Kulasa-Luke, Dianne; Megarbane, Andre; Karkare, Shefali; Chagnon, Sarah L; Humberson, Jennifer B; Assaf, Melissa J; Silva, Sebastian; Zarroli, Katherine; Boyarchuk, Oksana; Nelson, Gary R; Palmquist, Rachel; Hammond, Katherine C; Hwang, Sean T; Boutlier, Susan B; Nolan, Melinda; Batley, Kaitlin Y; Chavda, Devraj; Reyes-Silva, Carlos Alberto; Miroshnikov, Oleksandr; Zuccarelli, Britton; Amlie-Wolf, Louise; Wheless, James W; Seinfeld, Syndi; Kanhangad, Manoj; Freeman, Jeremy L; Monroy-Santoyo, Susana; Rodriguez-Vazquez, Natalia; Ryan, Monique M; Machie, Michelle; Guerra, Patricio; Hassan, Muhammad Jawad; Candee, Meghan S; Bupp, Caleb P; Park, Kristen L; Muller, Eric 2nd; Lupo, Pamela; Pedersen, Robert C; Arain, Amir M; Murphy, Andrea; Schatz, Krista; Mu, Weiyi; Kalika, Paige M; Plaza, Lautaro; Kellogg, Marissa A; Lora, Evelyn G; Carson, Robert P; Svystilnyk, Victoria; Venegas, Viviana; Luke, Rebecca R; Jiang, Huiyuan; Stetsenko, Tetiana; Dueñas-Roque, Milagros M; Trasmonte, Joseph; Burke, Rebecca J; Hurst, Anna C E; Smith, Douglas M; Massingham, Lauren J; Pisani, Laura; Costin, Carrie E; Ostrander, Betsy; Filloux, Francis M; Ananth, Amitha L; Mohamed, Ismail S; Nechai, Alla; Dao, Jasmin M; Fahey, Michael C; Aliu, Ermal; Falchek, Stephen; Press, Craig A; Treat, Lauren; Eschbach, Krista; Starks, Angela; Kammeyer, Ryan; Bear, Joshua J; Jacobson, Mona; Chernuha, Veronika; Meibos, Bailey; Wong, Kristen; Sweney, Matthew T; Espinoza, A Chris; Van Orman, Colin B; Weinstock, Arie; Kumar, Ashutosh; Soler-Alfonso, Claudia; Nolan, Danielle A; Raza, Muhammad; Rojas Carrion, Miguel David; Chari, Geetha; Marsh, Eric D; Shiloh-Malawsky, Yael; Parikh, Sumit; Gonzalez-Giraldo, Ernesto; Fulton, Stephen; Sogawa, Yoshimi; Burns, Kaitlyn; Malets, Myroslava; Montiel Blanco, Johnny David; Habela, Christa W; Wilson, Carey A; Guzmán, Guillermo G; Pavliuk, Mariia

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

NR4A2基因的新生变异与神经发育障碍和癫痫有关。

Singh, Sakshi; Gupta, Aditi; Zech, Michael; Sigafoos, Ashley N; Clark, Karl J; Dincer, Yasemin; Wagner, Matias; Humberson, Jennifer B; Green, Sarah; van Gassen, Koen; Brandt, Tracy; Schnur, Rhonda E; Millan, Francisca; Si, Yue; Mall, Volker; Winkelmann, Juliane; Gavrilova, Ralitza H; Klee, Eric W; Engleman, Kendra; Safina, Nicole P; Slaugh, Rachel; Bryant, Emily M; Tan, Wen-Hann; Granadillo, Jorge; Misra, Sunita N; Schaefer, G Bradley; Towner, Shelley; Brilstra, Eva H; Koeleman, Bobby P C

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

组蛋白乙酰转移酶复合物组分基因TRRAP的错义变异会导致自闭症和综合征型智力障碍

Cogné, Benjamin; Ehresmann, Sophie; Beauregard-Lacroix, Eliane; Rousseau, Justine; Besnard, Thomas; Garcia, Thomas; Petrovski, Slavé; Avni, Shiri; McWalter, Kirsty; Blackburn, Patrick R; Sanders, Stephan J; Uguen, Kévin; Harris, Jacqueline; Cohen, Julie S; Blyth, Moira; Lehman, Anna; Berg, Jonathan; Li, Mindy H; Kini, Usha; Joss, Shelagh; von der Lippe, Charlotte; Gordon, Christopher T; Humberson, Jennifer B; Robak, Laurie; Scott, Daryl A; Sutton, Vernon R; Skraban, Cara M; Johnston, Jennifer J; Poduri, Annapurna; Nordenskjöld, Magnus; Shashi, Vandana; Gerkes, Erica H; Bongers, Ernie M H F; Gilissen, Christian; Zarate, Yuri A; Kvarnung, Malin; Lally, Kevin P; Kulch, Peggy A; Daniels, Brina; Hernandez-Garcia, Andres; Stong, Nicholas; McGaughran, Julie; Retterer, Kyle; Tveten, Kristian; Sullivan, Jennifer; Geisheker, Madeleine R; Stray-Pedersen, Asbjorg; Tarpinian, Jennifer M; Klee, Eric W; Sapp, Julie C; Zyskind, Jacob; Holla, Øystein L; Bedoukian, Emma; Filippini, Francesca; Guimier, Anne; Picard, Arnaud; Busk, Øyvind L; Punetha, Jaya; Pfundt, Rolph; Lindstrand, Anna; Nordgren, Ann; Kalb, Fayth; Desai, Megha; Ebanks, Ashley Harmon; Jhangiani, Shalini N; Dewan, Tammie; Coban Akdemir, Zeynep H; Telegrafi, Aida; Zackai, Elaine H; Begtrup, Amber; Song, Xiaofei; Toutain, Annick; Wentzensen, Ingrid M; Odent, Sylvie; Bonneau, Dominique; Latypova, Xénia; Deb, Wallid; Redon, Sylvia; Bilan, Frédéric; Legendre, Marine; Troyer, Caitlin; Whitlock, Kerri; Caluseriu, Oana; Murphree, Marine I; Pichurin, Pavel N; Agre, Katherine; Gavrilova, Ralitza; Rinne, Tuula; Park, Meredith; Shain, Catherine; Heinzen, Erin L; Xiao, Rui; Amiel, Jeanne; Lyonnet, Stanislas; Isidor, Bertrand; Biesecker, Leslie G; Lowenstein, Dan; Posey, Jennifer E; Denommé-Pichon, Anne-Sophie; Férec, Claude; Yang, Xiang-Jiao; Rosenfeld, Jill A; Gilbert-Dussardier, Brigitte; Audebert-Bellanger, Séverine; Redon, Richard; Stessman, Holly A F; Nellaker, Christoffer; Yang, Yaping; Lupski, James R; Goldstein, David B; Eichler, Evan E; Bolduc, Francois; Bézieau, Stéphane; Küry, Sébastien; Campeau, Philippe M