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

Transparency and ongoing communication with participants in brain organoid research: Consensus of an interdisciplinary working group

脑类器官研究的透明度和与参与者的持续沟通:跨学科工作组的共识

Cohn, Betty; Doerr, Megan; Feliciano, Pamela; Fullerton, Stephanie M; Hendriks, Saskia; Holm, Soren; Hyun, Insoo; Jongsma, Karin; Meagher, Karen M; Ross, M Elizabeth; Stein, Jason L; Terry, Sharon F; MacDuffie, Katherine E

A spatial long-read approach at near-single-cell resolution reveals developmental regulation of splicing and polyadenylation sites in distinct cortical layers and cell types.

接近单细胞分辨率的空间长读长方法揭示了不同皮层层和细胞类型中剪接和多聚腺苷酸化位点的发育调控

Foord Careen, Prjibelski Andrey D, Hu Wen, Michielsen Lieke, Vandelli Andrea, Narykov Oleksandr, Evans Brian, Hsu Justine, Belchikov Natan, Jarroux Julien, He Yi, Ross M Elizabeth, Hajirasouliha Iman, Tartaglia Gian Gaetano, Korkin Dmitry, Tomescu Alexandru I, Tilgner Hagen U

Integrative computational analyses implicate regulatory genomic elements contributing to spina bifida

综合计算分析表明,调控基因组元件与脊柱裂有关

Wolujewicz, Paul; Aguiar-Pulido, Vanessa; Thareja, Gaurav; Suhre, Karsten; Elemento, Olivier; Finnell, Richard H; Ross, M Elizabeth

Astrocytes derived from ASD individuals alter behavior and destabilize neuronal activity through aberrant Ca(2+) signaling

来自自闭症谱系障碍患者的星形胶质细胞通过异常的Ca(2+)信号传导改变行为并破坏神经元活动。

Allen, Megan; Huang, Ben S; Notaras, Michael J; Lodhi, Aiman; Barrio-Alonso, Estibaliz; Lituma, Pablo J; Wolujewicz, Paul; Witztum, Jonathan; Longo, Francesco; Chen, Maoshan; Greening, David W; Klann, Eric; Ross, M Elizabeth; Liston, Conor; Colak, Dilek

Adult-onset Niemann-Pick disease type C masquerading as spinocerebellar ataxia

成人起病的尼曼-匹克病C型,易误诊为脊髓小脑性共济失调。

Vo, Mary L; Levy, Tess; Lakhani, Shenela; Wang, Chengbing; Ross, M Elizabeth

Systems biology analysis of human genomes points to key pathways conferring spina bifida risk

系统生物学对人类基因组的分析揭示了导致脊柱裂风险的关键通路。

Aguiar-Pulido, Vanessa; Wolujewicz, Paul; Martinez-Fundichely, Alexander; Elhaik, Eran; Thareja, Gaurav; Abdel Aleem, Alice; Chalhoub, Nader; Cuykendall, Tawny; Al-Zamer, Jamel; Lei, Yunping; El-Bashir, Haitham; Musser, James M; Al-Kaabi, Abdulla; Shaw, Gary M; Khurana, Ekta; Suhre, Karsten; Mason, Christopher E; Elemento, Olivier; Finnell, Richard H; Ross, M Elizabeth

Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida

全基因组调查发现与人类脊柱裂相关的罕见拷贝数变异负荷

Wolujewicz, Paul; Aguiar-Pulido, Vanessa; AbdelAleem, Alice; Nair, Vidya; Thareja, Gaurav; Suhre, Karsten; Shaw, Gary M; Finnell, Richard H; Elemento, Olivier; Ross, M Elizabeth

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

SLC35A2-CDG:30例未报道个体的功能表征、扩展的分子、临床和生化表型

Ng, Bobby G; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A; Barone, Rita; Botto, Lorenzo D; Burton, Jennifer E; Carlston, Colleen; Chung, Brian Hon-Yin; Cohen, Julie S; Coman, David; Dipple, Katrina M; Dorrani, Naghmeh; Dobyns, William B; Elias, Abdallah F; Epstein, Leon; Gahl, William A; Garozzo, Domenico; Hammer, Trine Bjørg; Haven, Jaclyn; Héron, Delphine; Herzog, Matthew; Hoganson, George E; Hunter, Jesse M; Jain, Mahim; Juusola, Jane; Lakhani, Shenela; Lee, Hane; Lee, Joy; Lewis, Katherine; Longo, Nicola; Lourenço, Charles Marques; Mak, Christopher C Y; McKnight, Dianalee; Mendelsohn, Bryce A; Mignot, Cyril; Mirzaa, Ghayda; Mitchell, Wendy; Muhle, Hiltrud; Nelson, Stanley F; Olczak, Mariusz; Palmer, Christina G S; Partikian, Arthur; Patterson, Marc C; Pierson, Tyler M; Quinonez, Shane C; Regan, Brigid M; Ross, M Elizabeth; Guillen Sacoto, Maria J; Scaglia, Fernando; Scheffer, Ingrid E; Segal, Devorah; Singhal, Nilika Shah; Striano, Pasquale; Sturiale, Luisa; Symonds, Joseph D; Tang, Sha; Vilain, Eric; Willis, Mary; Wolfe, Lynne A; Yang, Hui; Yano, Shoji; Powis, Zöe; Suchy, Sharon F; Rosenfeld, Jill A; Edmondson, Andrew C; Grunewald, Stephanie; Freeze, Hudson H

Dominant negative GPR161 rare variants are risk factors of human spina bifida

显性负性GPR161罕见变异是人类脊柱裂的风险因素

Kim, Sung-Eun; Lei, Yunping; Hwang, Sun-Hee; Wlodarczyk, Bogdan J; Mukhopadhyay, Saikat; Shaw, Gary M; Ross, M Elizabeth; Finnell, Richard H

The search for genetic determinants of human neural tube defects

寻找人类神经管缺陷的遗传决定因素

Wolujewicz, Paul; Ross, M Elizabeth