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

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

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

Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation

嘌呤生物合成酶IMPDH2的神经发育障碍突变会破坏其变构调节。

O'Neill, Audrey G; Burrell, Anika L; Zech, Michael; Elpeleg, Orly; Harel, Tamar; Edvardson, Simon; Mor-Shaked, Hagar; Rippert, Alyssa L; Nomakuchi, Tomoki; Izumi, Kosuke; Kollman, Justin M

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

Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure

IMPDH2基因的点突变会导致早发性神经发育障碍,这些突变会破坏酶的调控和丝状结构。

O'Neill, Audrey G; Burrell, Anika L; Zech, Michael; Elpeleg, Orly; Harel, Tamar; Edvardson, Simon; Shaked, Hagar Mor; Rippert, Alyssa L; Nomakuchi, Tomoki; Izumi, Kosuke; Kollman, Justin M

Counteracting chromatin effects of a splicing-correcting antisense oligonucleotide improves its therapeutic efficacy in spinal muscular atrophy

拮抗剪接校正反义寡核苷酸的染色质效应可提高其在脊髓性肌萎缩症中的治疗效果。

Luciano E Marasco ,Gwendal Dujardin ,Rui Sousa-Luís ,Ying Hsiu Liu ,Jose N Stigliano ,Tomoki Nomakuchi ,Nick J Proudfoot ,Adrian R Krainer ,Alberto R Kornblihtt

Gene-specific nonsense-mediated mRNA decay targeting for cystic fibrosis therapy

基因特异性无义介导的 mRNA 衰减靶向治疗囊性纤维化

Young Jin Kim, Tomoki Nomakuchi, Foteini Papaleonidopoulou, Lucia Yang, Qian Zhang, Adrian R Krainer