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

An unblinded training exposure to hypoxia enhances subsequent hypoxia awareness

非盲法低氧训练可增强后续的低氧感知能力。

Allocco, August; van Waart, Hanna; Connell, Charlotte Jw; Wong, Nicole Ye; Charukonda, Abhi; Gant, Nicholas; Vrijdag, Xavier Ce; Mitchell, Simon J

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.

一种新型的SMARCC1 BAF病与人类脑积水相关的神经祖细胞表观遗传失调有关

Singh Amrita K, Allington Garrett, Viviano Stephen, McGee Stephen, Kiziltug Emre, Ma Shaojie, Zhao Shujuan, Mekbib Kedous Y, Shohfi John P, Duy Phan Q, DeSpenza Tyrone Jr, Furey Charuta G, Reeves Benjamin C, Smith Hannah, Sousa André M M, Cherskov Adriana, Allocco August, Nelson-Williams Carol, Haider Shozeb, Rizvi Syed R A, Alper Seth L, Sestan Nenad, Shimelis Hermela, Walsh Lauren K, Lifton Richard P, Moreno-De-Luca Andres, Jin Sheng Chih, Kruszka Paul, Deniz Engin, Kahle Kristopher T

Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

多组学分析表明,神经发育程序与脑蛛网膜囊肿的发病机制有关。

Kundishora, Adam J; Allington, Garrett; McGee, Stephen; Mekbib, Kedous Y; Gainullin, Vladimir; Timberlake, Andrew T; Nelson-Williams, Carol; Kiziltug, Emre; Smith, Hannah; Ocken, Jack; Shohfi, John; Allocco, August; Duy, Phan Q; Elsamadicy, Aladine A; Dong, Weilai; Zhao, Shujuan; Wang, Yung-Chun; Qureshi, Hanya M; DiLuna, Michael L; Mane, Shrikant; Tikhonova, Irina R; Fu, Po-Ying; Castaldi, Christopher; López-Giráldez, Francesc; Knight, James R; Furey, Charuta G; Carter, Bob S; Haider, Shozeb; Moreno-De-Luca, Andres; Alper, Seth L; Gunel, Murat; Millan, Francisca; Lifton, Richard P; Torene, Rebecca I; Jin, Sheng Chih; Kahle, Kristopher T

A novel SMARCC1 -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus

一种新型SMARCC1突变型BAF病与脑积水相关的神经祖细胞表观遗传失调有关

Singh, Amrita K; Viviano, Stephen; Allington, Garrett; McGee, Stephen; Kiziltug, Emre; Mekbib, Kedous Y; Shohfi, John P; Duy, Phan Q; DeSpenza, Tyrone; Furey, Charuta G; Reeves, Benjamin C; Smith, Hannah; Ma, Shaojie; Sousa, André M M; Cherskov, Adriana; Allocco, August; Nelson-Williams, Carol; Haider, Shozeb; Rizvi, Syed R A; Alper, Seth L; Sestan, Nenad; Shimelis, Hermela; Walsh, Lauren K; Lifton, Richard P; Moreno-De-Luca, Andres; Jin, Sheng Chih; Kruszka, Paul; Deniz, Engin; Kahle, Kristopher T

The pipeline starts in medical school: characterizing clinician-educator training programs for U.S. medical students

人才培养之路始于医学院:美国医学生临床教师培训项目概况

Bahar, Ryan C; O'Shea, Aidan W; Li, Eric S; Swallow, Madisen A; Allocco, August A; Spak, Judy M; Hafler, Janet P

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

外显子组测序表明,产前神经胶质生成过程中的基因紊乱与散发性先天性脑积水有关

Jin, Sheng Chih; Dong, Weilai; Kundishora, Adam J; Panchagnula, Shreyas; Moreno-De-Luca, Andres; Furey, Charuta G; Allocco, August A; Walker, Rebecca L; Nelson-Williams, Carol; Smith, Hannah; Dunbar, Ashley; Conine, Sierra; Lu, Qiongshi; Zeng, Xue; Sierant, Michael C; Knight, James R; Sullivan, William; Duy, Phan Q; DeSpenza, Tyrone; Reeves, Benjamin C; Karimy, Jason K; Marlier, Arnaud; Castaldi, Christopher; Tikhonova, Irina R; Li, Boyang; Peña, Helena Perez; Broach, James R; Kabachelor, Edith M; Ssenyonga, Peter; Hehnly, Christine; Ge, Li; Keren, Boris; Timberlake, Andrew T; Goto, June; Mangano, Francesco T; Johnston, James M; Butler, William E; Warf, Benjamin C; Smith, Edward R; Schiff, Steven J; Limbrick, David D Jr; Heuer, Gregory; Jackson, Eric M; Iskandar, Bermans J; Mane, Shrikant; Haider, Shozeb; Guclu, Bulent; Bayri, Yasar; Sahin, Yener; Duncan, Charles C; Apuzzo, Michael L J; DiLuna, Michael L; Hoffman, Ellen J; Sestan, Nenad; Ment, Laura R; Alper, Seth L; Bilguvar, Kaya; Geschwind, Daniel H; Günel, Murat; Lifton, Richard P; Kahle, Kristopher T

Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia

外显子组测序表明三叉神经痛与GABA信号传导和神经元离子转运受损有关

Dong, Weilai; Jin, Sheng Chih; Allocco, August; Zeng, Xue; Sheth, Amar H; Panchagnula, Shreyas; Castonguay, Annie; Lorenzo, Louis-Étienne; Islam, Barira; Brindle, Geneviève; Bachand, Karine; Hu, Jamie; Sularz, Agata; Gaillard, Jonathan; Choi, Jungmin; Dunbar, Ashley; Nelson-Williams, Carol; Kiziltug, Emre; Furey, Charuta Gavankar; Conine, Sierra; Duy, Phan Q; Kundishora, Adam J; Loring, Erin; Li, Boyang; Lu, Qiongshi; Zhou, Geyu; Liu, Wei; Li, Xinyue; Sierant, Michael C; Mane, Shrikant; Castaldi, Christopher; López-Giráldez, Francesc; Knight, James R; Sekula, Raymond F Jr; Simard, J Marc; Eskandar, Emad N; Gottschalk, Christopher; Moliterno, Jennifer; Günel, Murat; Gerrard, Jason L; Dib-Hajj, Sulayman; Waxman, Stephen G; Barker, Fred G 2nd; Alper, Seth L; Chahine, Mohamed; Haider, Shozeb; De Koninck, Yves; Lifton, Richard P; Kahle, Kristopher T

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation

盖伦静脉畸形中染色质修饰因子和 Ephrin 信号基因的突变

Duran, Daniel; Zeng, Xue; Jin, Sheng Chih; Choi, Jungmin; Nelson-Williams, Carol; Yatsula, Bogdan; Gaillard, Jonathan; Furey, Charuta Gavankar; Lu, Qiongshi; Timberlake, Andrew T; Dong, Weilai; Sorscher, Michelle A; Loring, Erin; Klein, Jennifer; Allocco, August; Hunt, Ava; Conine, Sierra; Karimy, Jason K; Youngblood, Mark W; Zhang, Jinwei; DiLuna, Michael L; Matouk, Charles C; Mane, Shrikant; Tikhonova, Irina R; Castaldi, Christopher; López-Giráldez, Francesc; Knight, James; Haider, Shozeb; Soban, Mariya; Alper, Seth L; Komiyama, Masaki; Ducruet, Andrew F; Zabramski, Joseph M; Dardik, Alan; Walcott, Brian P; Stapleton, Christopher J; Aagaard-Kienitz, Beverly; Rodesch, Georges; Jackson, Eric; Smith, Edward R; Orbach, Darren B; Berenstein, Alejandro; Bilguvar, Kaya; Vikkula, Miikka; Gunel, Murat; Lifton, Richard P; Kahle, Kristopher T

Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3

由ATP1A3基因复合杂合突变引起的先天性脑积水伴其他脑结构异常的隐性遗传

Allocco, August A; Jin, Sheng Chih; Duy, Phan Q; Furey, Charuta G; Zeng, Xue; Dong, Weilai; Nelson-Williams, Carol; Karimy, Jason K; DeSpenza, Tyrone; Hao, Le T; Reeves, Benjamin; Haider, Shozeb; Gunel, Murat; Lifton, Richard P; Kahle, Kristopher T

SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus

散发性和家族性人类先天性脑积水中的SLC12A离子转运蛋白突变

Jin, Sheng Chih; Furey, Charuta G; Zeng, Xue; Allocco, August; Nelson-Williams, Carol; Dong, Weilai; Karimy, Jason K; Wang, Kevin; Ma, Shaojie; Delpire, Eric; Kahle, Kristopher T