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

Beyond multiple choice: Clinical simulation as a rigorous and inclusive method for assessing genetic counseling competencies

超越多项选择题:临床模拟作为一种严谨且包容的遗传咨询能力评估方法

Cho, Megan T; Davis, Claire; Lowe, Chenery; Flynn, Maureen; Jamal, Leila; Bajaj, Komal; Atzinger, Carrie; Erby, Lori H

Measuring quality and value in genetic counseling: The current landscape and future directions

遗传咨询质量与价值的衡量:现状与未来方向

Higgs, Emily; Wain, Karen E; Wynn, Julia; Cho, Megan T; Higgins, Sonja; Blaisdell, David; Dugan, Donna; Valek, Sara; Cohen, Stephanie

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

ATP6V1A脑病的表型和遗传谱:溶酶体稳态紊乱

Guerrini, Renzo; Mei, Davide; Kerti-Szigeti, Katalin; Pepe, Sara; Koenig, Mary Kay; Von Allmen, Gretchen; Cho, Megan T; McDonald, Kimberly; Baker, Janice; Bhambhani, Vikas; Powis, Zöe; Rodan, Lance; Nabbout, Rima; Barcia, Giulia; Rosenfeld, Jill A; Bacino, Carlos A; Mignot, Cyril; Power, Lillian H; Harris, Catharine J; Marjanovic, Dragan; Møller, Rikke S; Hammer, Trine B; Keski Filppula, Riikka; Vieira, Päivi; Hildebrandt, Clara; Sacharow, Stephanie; Maragliano, Luca; Benfenati, Fabio; Lachlan, Katherine; Benneche, Andreas; Petit, Florence; de Sainte Agathe, Jean Madeleine; Hallinan, Barbara; Si, Yue; Wentzensen, Ingrid M; Zou, Fanggeng; Narayanan, Vinodh; Matsumoto, Naomichi; Boncristiano, Alessandra; la Marca, Giancarlo; Kato, Mitsuhiro; Anderson, Kristin; Barba, Carmen; Sturiale, Luisa; Garozzo, Domenico; Bei, Roberto; Masuelli, Laura; Conti, Valerio; Novarino, Gaia; Fassio, Anna

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

MN1 C端截断综合征是一种新型的神经发育和颅面疾病,伴有部分菱脑融合。

Mak, Christopher C Y; Doherty, Dan; Lin, Angela E; Vegas, Nancy; Cho, Megan T; Viot, Géraldine; Dimartino, Clémantine; Weisfeld-Adams, James D; Lessel, Davor; Joss, Shelagh; Li, Chumei; Gonzaga-Jauregui, Claudia; Zarate, Yuri A; Ehmke, Nadja; Horn, Denise; Troyer, Caitlin; Kant, Sarina G; Lee, Youngha; Ishak, Gisele E; Leung, Gordon; Barone Pritchard, Amanda; Yang, Sandra; Bend, Eric G; Filippini, Francesca; Roadhouse, Chelsea; Lebrun, Nicolas; Mehaffey, Michele G; Martin, Pierre-Marie; Apple, Benjamin; Millan, Francisca; Puk, Oliver; Hoffer, Mariette J V; Henderson, Lindsay B; McGowan, Ruth; Wentzensen, Ingrid M; Pei, Steven; Zahir, Farah R; Yu, Mullin; Gibson, William T; Seman, Ann; Steeves, Marcie; Murrell, Jill R; Luettgen, Sabine; Francisco, Elizabeth; Strom, Tim M; Amlie-Wolf, Louise; Kaindl, Angela M; Wilson, William G; Halbach, Sara; Basel-Salmon, Lina; Lev-El, Noa; Denecke, Jonas; Vissers, Lisenka E L M; Radtke, Kelly; Chelly, Jamel; Zackai, Elaine; Friedman, Jan M; Bamshad, Michael J; Nickerson, Deborah A; Reid, Russell R; Devriendt, Koenraad; Chae, Jong-Hee; Stolerman, Elliot; McDougall, Carey; Powis, Zöe; Bienvenu, Thierry; Tan, Tiong Y; Orenstein, Naama; Dobyns, William B; Shieh, Joseph T; Choi, Murim; Waggoner, Darrel; Gripp, Karen W; Parker, Michael J; Stoler, Joan; Lyonnet, Stanislas; Cormier-Daire, Valérie; Viskochil, David; Hoffman, Trevor L; Amiel, Jeanne; Chung, Brian H Y; Gordon, Christopher T

Evolving Roles of Genetic Counselors in the Clinical Laboratory

遗传咨询师在临床实验室中的角色演变

Cho, Megan T; Guy, Carrie

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

CNOT1基因的新生突变会导致神经发育迟缓。CNOT1是CCR4-NOT复合物的核心成分,参与基因表达以及RNA和蛋白质的稳定性。

Vissers, Lisenka E L M; Kalvakuri, Sreehari; de Boer, Elke; Geuer, Sinje; Oud, Machteld; van Outersterp, Inge; Kwint, Michael; Witmond, Melde; Kersten, Simone; Polla, Daniel L; Weijers, Dilys; Begtrup, Amber; McWalter, Kirsty; Ruiz, Anna; Gabau, Elisabeth; Morton, Jenny E V; Griffith, Christopher; Weiss, Karin; Gamble, Candace; Bartley, James; Vernon, Hilary J; Brunet, Kendra; Ruivenkamp, Claudia; Kant, Sarina G; Kruszka, Paul; Larson, Austin; Afenjar, Alexandra; Billette de Villemeur, Thierry; Nugent, Kimberly; Raymond, F Lucy; Venselaar, Hanka; Demurger, Florence; Soler-Alfonso, Claudia; Li, Dong; Bhoj, Elizabeth; Hayes, Ian; Hamilton, Nina Powell; Ahmad, Ayesha; Fisher, Rachel; van den Born, Myrthe; Willems, Marjolaine; Sorlin, Arthur; Delanne, Julian; Moutton, Sebastien; Christophe, Philippe; Mau-Them, Frederic Tran; Vitobello, Antonio; Goel, Himanshu; Massingham, Lauren; Phornphutkul, Chanika; Schwab, Jennifer; Keren, Boris; Charles, Perrine; Vreeburg, Maaike; De Simone, Lenika; Hoganson, George; Iascone, Maria; Milani, Donatella; Evenepoel, Lucie; Revencu, Nicole; Ward, D Isum; Burns, Kaitlyn; Krantz, Ian; Raible, Sarah E; Murrell, Jill R; Wood, Kathleen; Cho, Megan T; van Bokhoven, Hans; Muenke, Maximilian; Kleefstra, Tjitske; Bodmer, Rolf; de Brouwer, Arjan P M

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

TRAF7基因种系变异相关的表型谱和转录组特征

Castilla-Vallmanya, Laura; Selmer, Kaja K; Dimartino, Clémantine; Rabionet, Raquel; Blanco-Sánchez, Bernardo; Yang, Sandra; Reijnders, Margot R F; van Essen, Antonie J; Oufadem, Myriam; Vigeland, Magnus D; Stadheim, Barbro; Houge, Gunnar; Cox, Helen; Kingston, Helen; Clayton-Smith, Jill; Innis, Jeffrey W; Iascone, Maria; Cereda, Anna; Gabbiadini, Sara; Chung, Wendy K; Sanders, Victoria; Charrow, Joel; Bryant, Emily; Millichap, John; Vitobello, Antonio; Thauvin, Christel; Mau-Them, Frederic Tran; Faivre, Laurence; Lesca, Gaetan; Labalme, Audrey; Rougeot, Christelle; Chatron, Nicolas; Sanlaville, Damien; Christensen, Katherine M; Kirby, Amelia; Lewandowski, Raymond; Gannaway, Rachel; Aly, Maha; Lehman, Anna; Clarke, Lorne; Graul-Neumann, Luitgard; Zweier, Christiane; Lessel, Davor; Lozic, Bernarda; Aukrust, Ingvild; Peretz, Ryan; Stratton, Robert; Smol, Thomas; Dieux-Coëslier, Anne; Meira, Joanna; Wohler, Elizabeth; Sobreira, Nara; Beaver, Erin M; Heeley, Jennifer; Briere, Lauren C; High, Frances A; Sweetser, David A; Walker, Melissa A; Keegan, Catherine E; Jayakar, Parul; Shinawi, Marwan; Kerstjens-Frederikse, Wilhelmina S; Earl, Dawn L; Siu, Victoria M; Reesor, Emma; Yao, Tony; Hegele, Robert A; Vaske, Olena M; Rego, Shannon; Shapiro, Kevin A; Wong, Brian; Gambello, Michael J; McDonald, Marie; Karlowicz, Danielle; Colombo, Roberto; Serretti, Alessandro; Pais, Lynn; O'Donnell-Luria, Anne; Wray, Alison; Sadedin, Simon; Chong, Belinda; Tan, Tiong Y; Christodoulou, John; White, Susan M; Slavotinek, Anne; Barbouth, Deborah; Morel Swols, Dayna; Parisot, Mélanie; Bole-Feysot, Christine; Nitschké, Patrick; Pingault, Véronique; Munnich, Arnold; Cho, Megan T; Cormier-Daire, Valérie; Balcells, Susanna; Lyonnet, Stanislas; Grinberg, Daniel; Amiel, Jeanne; Urreizti, Roser; Gordon, Christopher T

Advancing the genetic counseling profession through research: Identification of priorities by the National Society of Genetic Counselors research task force

通过研究推进遗传咨询专业发展:美国国家遗传咨询师协会研究工作组确定优先事项

Senter, Leigha; Austin, Jehannine C; Carey, Meghan; Cho, Megan T; Harris, Stephanie L; Linnenbringer, Erin L; MacFarlane, Ian M; Pan, Vivian Y; Quillin, John M; Wynn, Julia; Hooker, Gillian W

A qualitative study of Latinx parents' experiences of clinical exome sequencing

对拉丁裔父母进行临床外显子组测序经历的定性研究

Luksic, Daniel; Sukhu, Radha; Koval, Carrie; Cho, Megan T; Espinal, Aileen; Rufino, Katiana; Loarte, Tania Vasquez; Chung, Wendy K; Wynn, Julia

Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing

在下一代测序时代,评估脑白质营养不良的相对频率并提出携带者筛查建议

Schmidt, Johanna L; Pizzino, Amy; Nicholl, Jessica; Foley, Allison; Wang, Yue; Rosenfeld, Jill A; Mighion, Lindsey; Bean, Lora; da Silva, Cristina; Cho, Megan T; Truty, Rebecca; Garcia, John; Speare, Virginia; Blanco, Kirsten; Powis, Zoe; Hobson, Grace M; Kirwin, Susan; Krock, Bryan; Lee, Hane; Deignan, Joshua L; Westemeyer, Maggie A; Subaran, Ryan L; Thiffault, Isabelle; Tsai, Ellen A; Fang, Terry; Helman, Guy; Vanderver, Adeline