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

Dual Targeting of CDK4/6 and cMET in Metastatic Uveal Melanoma.

CDK4/6 和 cMET 双重靶向治疗转移性葡萄膜黑色素瘤

Ohara Masahiro, Saito Kengo, Kageyama Ken, Terai Mizue, Cheng Hanyin, Aplin Andrew E, Sato Takami

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

对携带 NAA10 和 NAA15 变异的国际人群进行表型和生化分析

Cheng, Hanyin; Gottlieb, Leah; Marchi, Elaine; Kleyner, Robert; Bhardwaj, Puja; Rope, Alan F; Rosenheck, Sarah; Moutton, Sébastien; Philippe, Christophe; Eyaid, Wafaa; Alkuraya, Fowzan S; Toribio, Janet; Mena, Rafael; Prada, Carlos E; Stessman, Holly; Bernier, Raphael; Wermuth, Marieke; Kauffmann, Birgit; Blaumeiser, Bettina; Kooy, R Frank; Baralle, Diana; Mancini, Grazia M S; Conway, Simon J; Xia, Fan; Chen, Zhao; Meng, Linyan; Mihajlovic, Ljubisa; Marmorstein, Ronen; Lyon, Gholson J

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity

TAF1错义变异与发育表型:致病性判定的挑战

Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Stefan, Piatek G; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aimé; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E; Palmer, Elizabeth E; Murray, Lucinda; Leon, Eyby; Diaz, Jullianne; Worgan, Lisa; Mallawaarachchi, Amalia; Vogt, Julie; de Munnik, Sonja A; Dreyer, Lauren; Baynam, Gareth; Ewans, Lisa; Stark, Zornitza; Lunke, Sebastian; Gonçalves, Ana R; Soares, Gabriela; Oliveira, Jorge; Fassi, Emily; Willing, Marcia; Waugh, Jeff L; Faivre, Laurence; Riviere, Jean-Baptiste; Moutton, Sebastien; Mohammed, Shehla; Payne, Katelyn; Walsh, Laurence; Begtrup, Amber; Guillen Sacoto, Maria J; Douglas, Ganka; Alexander, Nora; Buckley, Michael F; Mark, Paul R; Adès, Lesley C; Sandaradura, Sarah A; Lupski, James R; Roscioli, Tony; Agrawal, Pankaj B; Kline, Antonie D; Wang, Kai; Timmers, H T Marc; Lyon, Gholson J

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

NAA15 的截断变异与不同程度的智力障碍、自闭症谱系障碍和先天性异常有关。

Cheng, Hanyin; Dharmadhikari, Avinash V; Varland, Sylvia; Ma, Ning; Domingo, Deepti; Kleyner, Robert; Rope, Alan F; Yoon, Margaret; Stray-Pedersen, Asbjørg; Posey, Jennifer E; Crews, Sarah R; Eldomery, Mohammad K; Akdemir, Zeynep Coban; Lewis, Andrea M; Sutton, Vernon R; Rosenfeld, Jill A; Conboy, Erin; Agre, Katherine; Xia, Fan; Walkiewicz, Magdalena; Longoni, Mauro; High, Frances A; van Slegtenhorst, Marjon A; Mancini, Grazia M S; Finnila, Candice R; van Haeringen, Arie; den Hollander, Nicolette; Ruivenkamp, Claudia; Naidu, Sakkubai; Mahida, Sonal; Palmer, Elizabeth E; Murray, Lucinda; Lim, Derek; Jayakar, Parul; Parker, Michael J; Giusto, Stefania; Stracuzzi, Emanuela; Romano, Corrado; Beighley, Jennifer S; Bernier, Raphael A; Küry, Sébastien; Nizon, Mathilde; Corbett, Mark A; Shaw, Marie; Gardner, Alison; Barnett, Christopher; Armstrong, Ruth; Kassahn, Karin S; Van Dijck, Anke; Vandeweyer, Geert; Kleefstra, Tjitske; Schieving, Jolanda; Jongmans, Marjolijn J; de Vries, Bert B A; Pfundt, Rolph; Kerr, Bronwyn; Rojas, Samantha K; Boycott, Kym M; Person, Richard; Willaert, Rebecca; Eichler, Evan E; Kooy, R Frank; Yang, Yaping; Wu, Joseph C; Lupski, James R; Arnesen, Thomas; Cooper, Gregory M; Chung, Wendy K; Gecz, Jozef; Stessman, Holly A F; Meng, Linyan; Lyon, Gholson J

Somatic deletions of the polyA tract in the 3' untranslated region of epidermal growth factor receptor are common in microsatellite instability-high endometrial and colorectal carcinomas

表皮生长因子受体3'非翻译区polyA序列的体细胞缺失在微卫星不稳定性高(MSI-H)的子宫内膜癌和结直肠癌中很常见。

Deqin, Ma; Chen, Zhao; Nero, Christopher; Patel, Keyur P; Daoud, Emad M; Cheng, Hanyin; Djordjevic, Bojana; Broaddus, Russell R; Medeiros, L Jeffrey; Rashid, Asif; Luthra, Rajyalakshmi

Phosphorylation of human Jak3 at tyrosines 904 and 939 positively regulates its activity

人JAK3蛋白酪氨酸904和939位点的磷酸化正向调控其活性。

Cheng, Hanyin; Ross, Jeremy A; Frost, Jeffrey A; Kirken, Robert A