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

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

KDM6B相关神经发育障碍的临床和分子谱

Rots, Dmitrijs; Jakub, Taryn E; Keung, Crystal; Jackson, Adam; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B A; van Jaarsveld, Richard H; Hopman, Saskia M J; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortüm, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibæk, Maria; Prijoles, Eloise J; Stevenson, Roger E; Everman, David B; Patterson, Wesley G; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J; Lopez Garcia, María Soledad; Perrier, Renee; Sousa, Sergio B; Almeida, Pedro M; Simões, Maria José; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J; Garavelli, Livia; Caraffi, Stefano G; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P A; Stumpel, Constance T R M; Tiller, George E; Bosch, Daniëlle G M; Potgieter, Stephanus T; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas G; Freitag, Christine M; Satterstrom, F Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce D; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen W; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Bénédicte, Demeer; Lopergolo, Diego; Santorelli, Filippo M; Haack, Tobias B; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth J; Rieß, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael F; Liebelt, Jan; Dagli, Aditi I; Aten, Emmelien; Hurst, Anna C E; Hicks, Alesha; Suri, Mohnish; Aliu, Ermal; Naik, Sunil; Sidlow, Richard; Coursimault, Juliette; Nicolas, Gaël; Küpper, Hanna; Petit, Florence; Ibrahim, Veyan; Top, Deniz; Di Cara, Francesca; Louie, Raymond J; Stolerman, Elliot; Brunner, Han G; Vissers, Lisenka E L M; Kramer, Jamie M; Kleefstra, Tjitske

The transcriptomic signature of DEPDC5 KO induced mTOR hyperactivation in human neurons and its response to rapamycin treatment

DEPDC5 KO 诱导的人类神经元 mTOR 过度激活的转录组特征及其对雷帕霉素治疗的反应

Jones, Mattson S O; Lindlar, Silvia; Ludwig, Johannes; Waltes, Regina; Kumar, Afsheen; V Brauchitsch, Sophie; Rossi, Andrea; Ullrich, Evelyn; Momma, Stefan; Freitag, Christine M; Hefendehl, Jasmin K; Klein, Karl Martin; Rosenow, Felix; Haslinger, Denise; Chiocchetti, Andreas G

Breast cancer risks associated with missense variants in breast cancer susceptibility genes

与乳腺癌易感基因错义变异相关的乳腺癌风险

Dorling, Leila; Carvalho, Sara; Allen, Jamie; Parsons, Michael T; Fortuno, Cristina; González-Neira, Anna; Heijl, Stephan M; Adank, Muriel A; Ahearn, Thomas U; Andrulis, Irene L; Auvinen, Päivi; Becher, Heiko; Beckmann, Matthias W; Behrens, Sabine; Bermisheva, Marina; Bogdanova, Natalia V; Bojesen, Stig E; Bolla, Manjeet K; Bremer, Michael; Briceno, Ignacio; Camp, Nicola J; Campbell, Archie; Castelao, Jose E; Chang-Claude, Jenny; Chanock, Stephen J; Chenevix-Trench, Georgia; Collée, J Margriet; Czene, Kamila; Dennis, Joe; Dörk, Thilo; Eriksson, Mikael; Evans, D Gareth; Fasching, Peter A; Figueroa, Jonine; Flyger, Henrik; Gabrielson, Marike; Gago-Dominguez, Manuela; García-Closas, Montserrat; Giles, Graham G; Glendon, Gord; Guénel, Pascal; Gündert, Melanie; Hadjisavvas, Andreas; Hahnen, Eric; Hall, Per; Hamann, Ute; Harkness, Elaine F; Hartman, Mikael; Hogervorst, Frans B L; Hollestelle, Antoinette; Hoppe, Reiner; Howell, Anthony; Jakubowska, Anna; Jung, Audrey; Khusnutdinova, Elza; Kim, Sung-Won; Ko, Yon-Dschun; Kristensen, Vessela N; Lakeman, Inge M M; Li, Jingmei; Lindblom, Annika; Loizidou, Maria A; Lophatananon, Artitaya; Lubiński, Jan; Luccarini, Craig; Madsen, Michael J; Mannermaa, Arto; Manoochehri, Mehdi; Margolin, Sara; Mavroudis, Dimitrios; Milne, Roger L; Mohd Taib, Nur Aishah; Muir, Kenneth; Nevanlinna, Heli; Newman, William G; Oosterwijk, Jan C; Park, Sue K; Peterlongo, Paolo; Radice, Paolo; Saloustros, Emmanouil; Sawyer, Elinor J; Schmutzler, Rita K; Shah, Mitul; Sim, Xueling; Southey, Melissa C; Surowy, Harald; Suvanto, Maija; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; van Asperen, Christi J; Waltes, Regina; Wang, Qin; Yang, Xiaohong R; Pharoah, Paul D P; Schmidt, Marjanka K; Benitez, Javier; Vroling, Bas; Dunning, Alison M; Teo, Soo Hwang; Kvist, Anders; de la Hoya, Miguel; Devilee, Peter; Spurdle, Amanda B; Vreeswijk, Maaike P G; Easton, Douglas F

The methylome in females with adolescent Conduct Disorder: Neural pathomechanisms and environmental risk factors

青少年行为障碍女性的甲基化组:神经病理机制和环境风险因素

Chiocchetti, Andreas G; Yousaf, Afsheen; Waltes, Regina; Bernhard, Anka; Martinelli, Anne; Ackermann, Katharina; Haslinger, Denise; Rotter, Björn; Krezdorn, Nico; Konrad, Kerstin; Kohls, Gregor; Vetro, Agnes; Hervas, Amaia; Fernández-Rivas, Aranzazu; Freitag, Christine M

Quantitative genome-wide association study of six phenotypic subdomains identifies novel genome-wide significant variants in autism spectrum disorder

对六个表型亚域进行定量全基因组关联研究,发现了自闭症谱系障碍中新的全基因组显著变异。

Yousaf, Afsheen; Waltes, Regina; Haslinger, Denise; Klauck, Sabine M; Duketis, Eftichia; Sachse, Michael; Voran, Anette; Biscaldi, Monica; Schulte-Rüther, Martin; Cichon, Sven; Nöthen, Markus; Ackermann, Jörg; Koch, Ina; Freitag, Christine M; Chiocchetti, Andreas G

Loss of the Chr16p11.2 ASD candidate gene QPRT leads to aberrant neuronal differentiation in the SH-SY5Y neuronal cell model

Chr16p11.2 ASD 候选基因 QPRT 的缺失导致 SH-SY5Y 神经元细胞模型中神经元分化异常

Denise Haslinger, Regina Waltes, Afsheen Yousaf, Silvia Lindlar, Ines Schneider, Chai K Lim, Meng-Miao Tsai, Boyan K Garvalov, Amparo Acker-Palmer, Nicolas Krezdorn, Björn Rotter, Till Acker, Gilles J Guillemin, Simone Fulda, Christine M Freitag, Andreas G Chiocchetti

Transcriptomic signatures of neuronal differentiation and their association with risk genes for autism spectrum and related neuropsychiatric disorders

神经元分化的转录组特征及其与自闭症谱系和相关神经精神疾病风险基因的关联

A G Chiocchetti, D Haslinger, J L Stein, L de la Torre-Ubieta, E Cocchi, T Rothämel, S Lindlar, R Waltes, S Fulda, D H Geschwind, C M Freitag

ATM protein-dependent phosphorylation of Rad50 protein regulates DNA repair and cell cycle control.

ATM 蛋白依赖的 Rad50 蛋白磷酸化调节 DNA 修复和细胞周期控制

Gatei Magtouf, Jakob Burkhard, Chen Philip, Kijas Amanda W, Becherel Olivier J, Gueven Nuri, Birrell Geoff, Lee Ji-Hoon, Paull Tanya T, Lerenthal Yaniv, Fazry Shazrul, Taucher-Scholz Gisela, Kalb Reinhard, Schindler Detlev, Waltes Regina, Dörk Thilo, Lavin Martin F

Genetics of autistic disorders: review and clinical implications

自闭症谱系障碍的遗传学:综述及临床意义

Freitag, Christine M; Staal, Wouter; Klauck, Sabine M; Duketis, Eftichia; Waltes, Regina

Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls

在 26,101 例乳腺癌病例和 29,842 例对照组中检测到 ATM 基因的错义变异

Fletcher, Olivia; Johnson, Nichola; dos Santos Silva, Isabel; Orr, Nick; Ashworth, Alan; Nevanlinna, Heli; Heikkinen, Tuomas; Aittomäki, Kristiina; Blomqvist, Carl; Burwinkel, Barbara; Bartram, Claus R; Meindl, Alfons; Schmutzler, Rita K; Cox, Angela; Brock, Ian; Elliott, Graeme; Reed, Malcolm W R; Southey, Melissa C; Smith, Letitia; Spurdle, Amanda B; Hopper, John L; Couch, Fergus J; Olson, Janet E; Wang, Xianshu; Fredericksen, Zachary; Schürmann, Peter; Waltes, Regina; Bremer, Michael; Dörk, Thilo; Devilee, Peter; van Asperen, Christie J; Tollenaar, Rob A E M; Seynaeve, Caroline; Hall, Per; Czene, Kamila; Humphreys, Keith; Liu, Jianjun; Ahmed, Shahana; Dunning, Alison M; Maranian, Melanie; Pharoah, Paul D P; Chenevix-Trench, Georgia; Beesley, Jonathan; Bogdanova, Natalia V; Antonenkova, Natalia N; Zalutsky, Iosif V; Anton-Culver, Hoda; Ziogas, Argyrios; Brauch, Hiltrud; Ko, Yon-Dschun; Hamann, Ute; Fasching, Peter A; Strick, Reiner; Ekici, Arif B; Beckmann, Matthias W; Giles, Graham G; Severi, Gianluca; Baglietto, Laura; English, Dallas R; Milne, Roger L; Benítez, Javier; Arias, José Ignacio; Pita, Guillermo; Nordestgaard, Børge G; Bojesen, Stig E; Flyger, Henrik; Kang, Daehee; Yoo, Keun-Young; Noh, Dong Young; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; García-Closas, Montserrat; Chanock, Stephen; Lissowska, Jolanta; Brinton, Louise A; Chang-Claude, Jenny; Wang-Gohrke, Shan; Broeks, Annegien; Schmidt, Marjanka K; van Leeuwen, Flora E; Van't Veer, Laura J; Margolin, Sara; Lindblom, Annika; Humphreys, Manjeet K; Morrison, Jonathan; Platte, Radka; Easton, Douglas F; Peto, Julian