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

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations

基因型优先的方法可以识别出高发的NF1致病变异,这些变异与特定的疾病相关。

Safonov, Anton; Nomakuchi, Tomoki T; Chao, Elizabeth; Horton, Carrie; Dolinsky, Jill S; Yussuf, Amal; Richardson, Marcy; Speare, Virginia; Li, Shuwei; Bogus, Zoe C; Bonanni, Maria; Raper, Anna; Odia, Trust; Wubbenhorst, Bradley S; Faulders, Elsa; Schuth, Elisabeth M; Loranger, Kate; Zhang, Jingwen; Scalise, Carly Bess; ElNaggar, Adam; Sha, Youbao; Felker, Stephanie A; Weitzel, Jeffrey; Kallish, Staci; Ritchie, Marylyn D; Nathanson, Katherine L; Drivas, Theodore G

DECODE enables high-throughput mapping of antibody epitopes at single amino acid resolution

DECODE技术能够以单氨基酸分辨率对抗体表位进行高通量定位。

Katsuhiko Matsumoto,Shoko Y Harada,Shota Y Yoshida,Ryohei Narumi,Tomoki T Mitani,Saori Yada,Aya Sato,Eiichi Morii,Yoshihiro Shimizu,Hiroki R Ueda

Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies

将深度表型定量与下一代表型分析相结合,用于研究192名患有生殖系组织细胞病的个体

Lubin, Emily E; Gonzalez, Elizabeth M; Sangree, Annabel K; Durham, Emily L; Klinkhammer, Hannah; Li, Jing-Mei; Smith, Sarina M; Layo-Carris, Dana E; Clark, Kelly J; Melendez-Perez, Ashley J; Wang, Xiao Min; Angireddy, Rajesh; Weiss, Erin E; Barakat, Tahsin Stefan; Mercier, Sandra; Cogné, Benjamin; Koene, Saskia; Hilhorst-Hofstee, Yvonne; Rydzanicz, Malgorzata; Ploski, Rafal; de Los Ángeles Gómez Cano, María; Palomares-Bralo, María; Arévalo, Tania Barragán; Tan, Tiong Yang; Gallacher, Lyndon; MacFarland, Suzanne P; Ahrens-Nicklas, Rebecca C; Nomakuchi, Tomoki T; Bhoj, Elizabeth J K

De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons

新发的MAP2K4变异会导致一种新的神经发育综合征,其特征是iPSC衍生神经元中的JNK信号传导受损。

Nomakuchi, Tomoki T; Rippert, Alyssa L; De León, Sabrina A Santos; Gonzalez, Elizabeth M; Li, Dong; Angireddy, Rajesh; Finoti, Livia Sertori; Faletra, Flavio; Musante, Luciana; Tuula, Rinne; Amor, David J; von Wintzingerode, Lydia; Jamra, Rami Abou; Stover, Samantha R; Buchan, Jillian G; Hayek, Jennifer; Leon, Eyby; Attie-Bitach, Tania; Rio, Marlene; Baujat, Genevieve; Wallach, Elisabeth; Smail, Amandine; Dias, Kerith-Rae; Pfeifer, Ulrich; Peterson, Amanda; Ahrens-Nicklas, Rebecca C; Bhoj, Elizabeth J K

A novel tauopathy model mimicking molecular and spatial aspects of human tau pathology

一种模拟人类 tau 病理分子和空间方面的新型 tau 蛋白病变模型

Rin Yanai, Tomoki T Mitani, Etsuo A Susaki, Takeharu Minamihisamatsu, Masafumi Shimojo, Yuri Saito, Hiroshi Mizuma, Nobuhiro Nitta, Daita Kaneda, Yoshio Hashizume, Gen Matsumoto, Kentaro Tanemura, Ming-Rong Zhang, Makoto Higuchi, Hiroki R Ueda, Naruhiko Sahara

Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes

基因组测序在具有神经发育表型的外显子组阴性儿科患者中的应用

Nomakuchi, Tomoki T; Teferedegn, Eden Y; Li, Dong; Muirhead, Kayla J; Dubbs, Holly; Leonard, Jacqueline; Muraresku, Colleen; Sergio, Emily; Arnold, Kaley; Pizzino, Amy; Skraban, Cara M; Zackai, Elaine H; Wang, Kai; Ganetzky, Rebecca D; Vanderver, Adeline L; Ahrens-Nicklas, Rebecca C; Bhoj, Elizabeth J K

NeuroTri2-VISDOT: An open-access tool to harness the power of second trimester human single cell data to inform models of Mendelian neurodevelopmental disorders

NeuroTri2-VISDOT:一款开放获取工具,利用妊娠中期人类单细胞数据来完善孟德尔神经发育障碍模型。

Clark, Kelly J; Lubin, Emily E; Gonzalez, Elizabeth M; Sangree, Annabel K; Layo-Carris, Dana E; Durham, Emily L; Ahrens-Nicklas, Rebecca C; Nomakuchi, Tomoki T; Bhoj, Elizabeth J

Expanding the reproductive organ phenotype of CHD7-spectrum disorder

扩大 CHD7 谱系疾病的生殖器官表型

Nomakuchi, Tomoki T; Danowitz, Melinda; Stewart, Blythe; Leonard, Jacqueline; Izumi, Kosuke; Krantz, Ian; Kolon, Thomas F; Langdon, David; Skraban, Cara; Van Batavia, Jason; Zackai, Elaine; Jiao, Kai; Linn, Rebecca; Alexander, Caitlin; Zaontz, Mark; Vogiatzi, Maria G; Pyle, Louise C

Distinct phosphorylation states of mammalian CaMKIIβ control the induction and maintenance of sleep

哺乳动物 CaMKIIβ 的不同磷酸化状态控制睡眠的诱导和维持

Daisuke Tone, Koji L Ode, Qianhui Zhang, Hiroshi Fujishima, Rikuhiro G Yamada, Yoshiki Nagashima, Katsuhiko Matsumoto, Zhiqing Wen, Shota Y Yoshida, Tomoki T Mitani, Yuki Arisato, Rei-Ichiro Ohno, Maki Ukai-Tadenuma, Junko Yoshida Garçon, Mari Kaneko, Shoi Shi, Hideki Ukai, Kazunari Miyamichi, Takas

A Novel Three-Dimensional Imaging System Based on Polysaccharide Staining for Accurate Histopathological Diagnosis of Inflammatory Bowel Diseases

基于多糖染色的新型三维成像系统,用于炎症性肠病的准确组织病理学诊断

Satoshi Nojima, Shoichi Ishida, Kei Terayama, Katsuhiko Matsumoto, Takahiro Matsui, Shinichiro Tahara, Kenji Ohshima, Hiroki Kiyokawa, Kansuke Kido, Koto Ukon, Shota Y Yoshida, Tomoki T Mitani, Yuichiro Doki, Tsunekazu Mizushima, Yasushi Okuno, Etsuo A Susaki, Hiroki R Ueda, Eiichi Morii