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

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

致病性GABRA3变异的功能后果决定了X连锁遗传是显性遗传还是隐性遗传。

Johannesen, Katrine M; Aung, Khaing Phyu; Liao, Vivian Wy; Absalom, Nathan; Chua, Han C; Gan, Xue N; Mao, Miaomiao; McKenzie, Chaseley E; Lee, Hian M; Ortiz, Sebastian; Spillmann, Rebecca C; Shashi, Vandana; Radtke, Rodney A; Mirzaa, Ghayda M; Weisner, P Anne; Flores Daboub, Josue; Hagedorn, Caroline; Bayrak-Toydemir, Pinar; DeMille, Desiree; Zhao, Jian; Bajaj, Nandita; Capri, Yline; Keren, Boris; Schmidts, Miriam; van de Laar, Ingrid Mbh; van Slegtenhorst, Marjon A; Ploski, Rafal; Bogotko, Marta; Bourque, Danielle K; Alkhunaizi, Ebba; Chad, Lauren; Quercia, Nada; Elloumi, Houda; Wentzensen, Ingrid M; Kruer, Michael C; Bisarad, Pritha; Galaz-Montoya, Carolina I; Rusu, Violeta; Braun, Dominique; Angione, Katie; Win, Jessica C; Espinosa-Jovel, Camilo; Zacher, Pia; Platzer, Konrad; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Rubboli, Guido; Møller, Rikke S; Reid, Christopher A; Ahring, Philip K

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

基因门户:将临床、功能和结构证据整合到罕见病变异分类中的框架

Brünger, Tobias; Krey, Ilona; Kim, Suyeon; Klöckner, Chiara; Myers, Scott J; Johannesen, Katrine M; Stefanski, Arthur; Taylor, Gary; Perez-Palma, Eduardo; Macnee, Marie; Schorge, Stephanie; Dahl, Rebekka S; Yuan, Hongjie; Perszyk, Riley E; Kim, Sukhan; Bajaj, Sunanjay; Helbig, Ingo; Pan, Jen Q; Farrant, Mark; Wollmuth, Lonnie; Wyllie, David J A; Kurganov, Erkin; Baez, David; Zuberi, Sameer; Boßelmann, Christian M; Lerche, Holger; Mantegazza, Massimo; Cestèle, Sandrine; May, Patrick; Ivaniuk, Alina; Meskis, Mary Anne; Hood, Veronica; Schust, Leah; Goodspeed, Kimberly; Kang, Jing-Qiong; Freed, Amber; Gati, Cornelius; Montanucci, Ludovica; Wuster, Arthur; Trinidad, Marena; Froelich, Steven; Deng, Alexander T; Serrano, Ángel Aledo; Borovikov, Artem; Sharkov, Artem; Bouman, Arjan; Hajianpour, M J; Pal, Deb K; Danvoye, Leslie; Lederer, Damien; Balci, Tugce R; Hagebeuk, Eveline E O; Heidlebaugh, Alexis; Oetjens, Kathryn; Hoffman, Trevor L; Striano, Pasquale; Williams, Sarah Drewes; van Engelen, Kalene; Howell, Katherine B; Khoury, Jean; Benke, Tim A; Strehlow, Vincent; Platzer, Konrad; Ramsey, Amy; Manaster, Lisa; Malepati, Sunitha; Fox, Pangkong; Noebels, Jeffrey; Chung, Wendy; Poduri, Annapurna; Stripe, Laina Lusk; Ruggiero, Sarah M; Cohen, Stacey; Smith, Lacey; Boesch, Sylvia; Wilmarth, Olivia; Prentice, Anna Jenne; Cha, Esther; Budnik, Nikita; Hommersom, Marina P; Kramer, Audra; Vanoye, Carlos G; Zhang, Guo-Qiang; Nothnagel, Michael; Palotie, Aarno; Daly, Mark J; George, Alfred L Jr; Zarate, Yuri A; Brunklaus, Andreas; Traynelis, Stephen F; Møller, Rikke S; Lemke, Johannes R; Lal, Dennis

Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants

致病性GABRG2功能丧失和功能获得变异个体的表型谱

Rossi, Alessandra; Lin, Susan X N; Absalom, Nathan L; Ortiz-De la Rosa, Sebastian; Liao, Vivian W Y; Mohammadi, Nazanin A; Viswanathan, Sindhu; Stödberg, Tommy; Danieli, Alberto; Bonanni, Paolo; Aeby, Alec; Orsini, Alessandro; Bonuccelli, Alice; Rüegger, Andrea; Giraldez, Beatriz G; Isidor, Bertrand; Stüve, Burkhard; Marini, Carla; Cesaroni, Elisabetta; Fenger, Christina D; Philippe, Christophe; Meunier, Colombine; Lederer, Damien; Moortgat, Stéphanie; Spinelli, Egidio; Fallica, Elisa; Zeiner, Fiona; Bauman, Matthias; Licchetta, Laura; Bisulli, Francesca; Operto, Francesca F; Benkel-Herrenbrueck, Ira; Gorman, Kathleen M; Johannesen, Katrine M; Platzer, Konrad; Schnabel, Franziska; Lagae, Lieven; Laufs, Mirjam; Zordania, Riina; Malone, Stephen; Messana, Tullio; Werckx, Wendy; Jonsson, Charlotta; Afawi, Zaid; Foiadelli, Thomas; Halleb, Yosra; Stoeva, Radka; Jennesson-Lyver, Mélanie; Lesca, Gaetan; Guerrini, Renzo; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Gardella, Elena; Møller, Rikke S; Rubboli, Guido; Ahring, Philip K

Nationwide Danish Register Based Study Showed a Stable Prevalence of Congenital Diaphragmatic Hernias From 1994 to 2021 but a Decrease in Syndromic Cases

一项基于丹麦全国登记数据的研究显示,1994年至2021年间先天性膈疝的患病率保持稳定,但综合征病例有所减少。

Lausten-Thomsen, Ulrik; Hedley, Paula L; Conway, Kristin M; Løfberg, Katrine M; Johansen, Lars S; Romitti, Paul A; Christiansen, Michael

Aortic valve-sparing root replacement and composite root replacement: a Danish multicentre nationwide study

主动脉瓣保留根部置换术和复合根部置换术:一项丹麦多中心全国性研究

Ravn, Emil Johannes; Krasniqi, Lytfi; Poulsen, Viktor; Mortensen, Poul Erik; Juel Kjeldsen, Bo; Lund, Jens; Øvrehus, Kristian; Gerke, Oke; Carter-Storch, Rasmus; Holdgaard Smerup, Morten; Susanne Modrau, Ivy; Bloch Rasmussen, Torsten; Müllertz, Katrine M; Clavel, Marie-Annick; Sanchez Dahl, Jordi; Schødt Riber, Lars Peter

Microglial TNFR2 signaling regulates the inflammatory response after CNS injury in a sex-specific fashion

小胶质细胞 TNFR2 信号以性别特异性方式调节中枢神经系统损伤后的炎症反应

Stefano Raffaele, Estrid Thougaard, Cathrine C H Laursen, Han Gao, Katrine M Andersen, Pernille V Nielsen, Natalia Ortí-Casañ, Morten Blichfeldt-Eckhardt, Simon Koch, Milani Deb-Chatterji, Tim Magnus, Jane Stubbe, Kirsten Madsen, Morten Meyer, Matilda Degn, Ulrich L M Eisel, Agnieszka Wlodarczyk, Ma

Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants

单倍体不足是SLC6A1变异导致神经发育后果的根本原因。

Silva, Dina Buitrago; Trinidad, Marena; Ljungdahl, Alicia; Revalde, Jezrael L; Berguig, Geoffrey Y; Wallace, William; Patrick, Cory S; Bomba, Lorenzo; Arkin, Michelle; Dong, Shan; Estrada, Karol; Hutchinson, Keino; LeBowitz, Jonathan H; Schlessinger, Avner; Johannesen, Katrine M; Møller, Rikke S; Giacomini, Kathleen M; Froelich, Steven; Sanders, Stephan J; Wuster, Arthur

Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment

对两种新型KCNQ2功能获得性变异体Y141N和G239S进行表型和功能评估,并探讨阿米替林治疗的影响

Bayat, Allan; Iavarone, Stefano; Miceli, Francesco; Jakobsen, Anne V; Johannesen, Katrine M; Nikanorova, Marina; Ploski, Rafal; Szymanska, Krystyna; Flamini, Robert; Cooper, Edward C; Weckhuysen, Sarah; Taglialatela, Maurizio; Møller, Rikke S

Dental-dedicated MRI, a novel approach for dentomaxillofacial diagnostic imaging: technical specifications and feasibility

牙科专用磁共振成像:一种用于口腔颌面诊断成像的新方法:技术规格和可行性

Greiser, Andreas; Christensen, Jennifer; Fuglsig, João M C S; Johannsen, Katrine M; Nixdorf, Donald R; Burzan, Kim; Lauer, Lars; Krueger, Gunnar; Hayes, Carmel; Kettless, Karen; Ulrici, Johannes; Spin-Neto, Rubens

Sleep disturbances in SCN8A-related disorders

SCN8A相关疾病中的睡眠障碍

Furia, Francesca; Johannesen, Katrine M; Bonardi, Claudia M; Previtali, Roberto; Aledo-Serrano, Angel; Mastrangelo, Massimo; Favaro, Jacopo; Masnada, Silvia; di Micco, Valentina; Proietti, Jacopo; Veggiotti, Pierangelo; Rubboli, Guido; Cantalupo, Gaetano; Olofsson, Kern; Møller, Rikke S; Gardella, Elena