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

Exploring the principles of logotherapy in genetic counseling: Enhancing decision-making, adaptation, and justice

探索意义疗法在遗传咨询中的应用:提升决策能力、适应能力和公正性

Chanouha, Nour; Chassevent, Anna; Macnamara, Ellen F; Schaa, Kendra; Thoeny, Renata; Tansey, Janeta

BK channel activity in skin fibroblasts from patients with neurological disorder.

神经系统疾病患者皮肤成纤维细胞中的 BK 通道活性

Dinsdale Ria L, Middendorf Thomas R, Disilvestre Deborah, Adams David, Gahl William, Macnamara Ellen F, Wolfe Lynne, Toro Camilo, Tifft Cynthia J, Meredith Andrea L

Domain specific phenotypic expansion associated with variants in MACF1

MACF1基因变异相关的结构域特异性表型扩展

Gogate, Nikhita; Jolly, Angad; Rosenfeld, Jill A; Bahena-Carbajal, Paulina; Bernstein, Jonathan A; Bonner, Devon; Busa, Tiffany; Cristian, Ingrid; D'Souza, Precilla; Friedman, Jennifer; Gorokhova, Svetlana; Haaf, Thomas; Herman, Isabella; Isin, Ugur Ufuk; Jhangiani, Shalini N; Johnson, Ivy; Lenberg, Jerica; Macnamara, Ellen F; Maroofian, Reza; Redlich, Olivia L; Tifft, Cynthia; Tos, Tulay; Vona, Barbara; Zambrano, Regina M; Wentzensen, Ingrid M; Wigby, Kristen; Pehlivan, Davut; Gibbs, Richard A; Lupski, James R; Posey, Jennifer E

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

RNU4-2 snRNA 的新生变异会导致一种常见的神经发育综合征。

Chen, Yuyang; Dawes, Ruebena; Kim, Hyung Chul; Ljungdahl, Alicia; Stenton, Sarah L; Walker, Susan; Lord, Jenny; Lemire, Gabrielle; Martin-Geary, Alexandra C; Ganesh, Vijay S; Ma, Jialan; Ellingford, Jamie M; Delage, Erwan; D'Souza, Elston N; Dong, Shan; Adams, David R; Allan, Kirsten; Bakshi, Madhura; Baldwin, Erin E; Berger, Seth I; Bernstein, Jonathan A; Bhatnagar, Ishita; Blair, Ed; Brown, Natasha J; Burrage, Lindsay C; Chapman, Kimberly; Coman, David J; Compton, Alison G; Cunningham, Chloe A; D'Souza, Precilla; Danecek, Petr; Délot, Emmanuèle C; Dias, Kerith-Rae; Elias, Ellen R; Elmslie, Frances; Evans, Care-Anne; Ewans, Lisa; Ezell, Kimberly; Fraser, Jamie L; Gallacher, Lyndon; Genetti, Casie A; Goriely, Anne; Grant, Christina L; Haack, Tobias; Higgs, Jenny E; Hinch, Anjali G; Hurles, Matthew E; Kuechler, Alma; Lachlan, Katherine L; Lalani, Seema R; Lecoquierre, François; Leitão, Elsa; Fevre, Anna Le; Leventer, Richard J; Liebelt, Jan E; Lindsay, Sarah; Lockhart, Paul J; Ma, Alan S; Macnamara, Ellen F; Mansour, Sahar; Maurer, Taylor M; Mendez, Hector R; Metcalfe, Kay; Montgomery, Stephen B; Moosajee, Mariya; Nassogne, Marie-Cécile; Neumann, Serena; O'Donoghue, Michael; O'Leary, Melanie; Palmer, Elizabeth E; Pattani, Nikhil; Phillips, John; Pitsava, Georgia; Pysar, Ryan; Rehm, Heidi L; Reuter, Chloe M; Revencu, Nicole; Riess, Angelika; Rius, Rocio; Rodan, Lance; Roscioli, Tony; Rosenfeld, Jill A; Sachdev, Rani; Shaw-Smith, Charles J; Simons, Cas; Sisodiya, Sanjay M; Snell, Penny; St Clair, Laura; Stark, Zornitza; Stewart, Helen S; Tan, Tiong Yang; Tan, Natalie B; Temple, Suzanna E L; Thorburn, David R; Tifft, Cynthia J; Uebergang, Eloise; VanNoy, Grace E; Vasudevan, Pradeep; Vilain, Eric; Viskochil, David H; Wedd, Laura; Wheeler, Matthew T; White, Susan M; Wojcik, Monica; Wolfe, Lynne A; Wolfenson, Zoe; Wright, Caroline F; Xiao, Changrui; Zocche, David; Rubenstein, John L; Markenscoff-Papadimitriou, Eirene; Fica, Sebastian M; Baralle, Diana; Depienne, Christel; MacArthur, Daniel G; Howson, Joanna M M; Sanders, Stephan J; O'Donnell-Luria, Anne; Whiffin, Nicola

Genetic counseling for congenital disorders of glycosylation (CDG)

先天性糖基化障碍(CDG)的遗传咨询

Weixel, Tara; Wolfe, Lynne; Macnamara, Ellen F

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

非编码剪接体snRNA基因RNU4-2的新生变异是综合征性神经发育障碍的常见病因。

Chen, Yuyang; Dawes, Ruebena; Kim, Hyung Chul; Stenton, Sarah L; Walker, Susan; Ljungdahl, Alicia; Lord, Jenny; Ganesh, Vijay S; Ma, Jialan; Martin-Geary, Alexandra C; Lemire, Gabrielle; D'Souza, Elston N; Dong, Shan; Ellingford, Jamie M; Adams, David R; Allan, Kirsten; Bakshi, Madhura; Baldwin, Erin E; Berger, Seth I; Bernstein, Jonathan A; Brown, Natasha J; Burrage, Lindsay C; Chapman, Kimberly; Compton, Alison G; Cunningham, Chloe A; D'Souza, Precilla; Délot, Emmanuèle C; Dias, Kerith-Rae; Elias, Ellen R; Evans, Carey-Anne; Ewans, Lisa; Ezell, Kimberly; Fraser, Jamie L; Gallacher, Lyndon; Genetti, Casie A; Grant, Christina L; Haack, Tobias; Kuechler, Alma; Lalani, Seema R; Leitão, Elsa; Fevre, Anna Le; Leventer, Richard J; Liebelt, Jan E; Lockhart, Paul J; Ma, Alan S; Macnamara, Ellen F; Maurer, Taylor M; Mendez, Hector R; Montgomery, Stephen B; Nassogne, Marie-Cécile; Neumann, Serena; O'Leary, Melanie; Palmer, Elizabeth E; Phillips, John; Pitsava, Georgia; Pysar, Ryan; Rehm, Heidi L; Reuter, Chloe M; Revencu, Nicole; Riess, Angelika; Rius, Rocio; Rodan, Lance; Roscioli, Tony; Rosenfeld, Jill A; Sachdev, Rani; Simons, Cas; Sisodiya, Sanjay M; Snell, Penny; Clair, Laura; Stark, Zornitza; Tan, Tiong Yang; Tan, Natalie B; Temple, Suzanna El; Thorburn, David R; Tifft, Cynthia J; Uebergang, Eloise; VanNoy, Grace E; Vilain, Eric; Viskochil, David H; Wedd, Laura; Wheeler, Matthew T; White, Susan M; Wojcik, Monica; Wolfe, Lynne A; Wolfenson, Zoe; Xiao, Changrui; Zocche, David; Rubenstein, John L; Markenscoff-Papadimitriou, Eirene; Fica, Sebastian M; Baralle, Diana; Depienne, Christel; MacArthur, Daniel G; Howson, Joanna Mm; Sanders, Stephan J; O'Donnell-Luria, Anne; Whiffin, Nicola

Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome

对点头综合征患者进行基因组分析、免疫调节和深度表型分析

Soldatos, Ariane; Nutman, Thomas B; Johnson, Tory; Dowell, Scott F; Sejvar, James J; Wilson, Michael R; DeRisi, Joseph L; Inati, Sara K; Groden, Catherine; Evans, Colleen; O'Connell, Elise M; Toliva, Bernard Opar; Aceng, Jane R; Aryek-Kwe, Josephine; Toro, Camilo; Stratakis, Constantine A; Buckler, A Gretchen; Cantilena, Cathy; Palmore, Tara N; Thurm, Audrey; Baker, Eva H; Chang, Richard; Fauni, Harper; Adams, David; Macnamara, Ellen F; Lau, C Christopher; Malicdan, May Christine V; Pusey-Swerdzewski, Barbara; Downing, Robert; Bunga, Sudhir; Thomas, Jerry D; Gahl, William A; Nath, Avindra

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

继续探寻诊断:青春期和家庭动态的影响

Miller, Ilana M; Yashar, Beverly M; Macnamara, Ellen F

MYH2-associated myopathy caused by a novel splice-site variant

由一种新型剪接位点变异引起的MYH2相关肌病

Cassini, Thomas A; Malicdan, May Christine V; Macnamara, Ellen F; Lehky, Tanya; Horkayne-Szakaly, Iren; Huang, Yan; Jones, Robert; Godfrey, Rena; Wolfe, Lynne; Gahl, William A; Toro, Camilo

The contribution of mosaicism to genetic diseases and de novo pathogenic variants

嵌合现象对遗传疾病和新生致病变异的贡献

Tinker, Rory J; Bastarache, Lisa; Ezell, Kimberly; Kobren, Shilpa Nadimpalli; Esteves, Cecilia; Rosenfeld, Jill A; Macnamara, Ellen F; Hamid, Rizwan; Cogan, Joy D; Rinker, David; Mukharjee, Souhrid; Glass, Ian; Dipple, Katrina; Phillips, John A 3rd