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

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

BLOC1S1 变异导致溶酶体和自噬缺陷,从而引起髓鞘形成不足性脑白质营养不良伴癫痫性脑病。

De Pace, Raffaella; Dominguez Gonzalez, Carlos A; Williamson, Chad D; Helman, Guy; Sanderson, Leslie E; Disanza, Brianna; Hsiao-Sánchez, Nicole; Pizzino, Amy; Muirhead, Kayla; Bonkowsky, Joshua L; Taft, Ryan J; Sannaa, Nouriya A; Dias, Patricia; Quintas, Ana Sofia; Mutlu, Mehmet Burak; Bas, Hasan; Oztürk, Hasan; Mojarrad, Majid; Alerasool, Masoome; Sheikhani, Shahriar; Jabbar, Hayder Kadhim; Issa, Awatif Hameed; Houlden, Henry; Zonic, Emir; Barakat, Tahsin Stefan; Tripolski, Kornelia; Romito, Antonio; Teferedegn, Eden; Vossough, Arastoo; Whitehead, Matthew T; Bhoj, Elizabeth; Ahrens-Nicklas, Rebecca C; Simons, Cas; Wolvetang, Ernst; van Ham, Tjakko J; Bertoli-Avella, Aida M; Maroofian, Reza; Bonifacino, Juan S; Vanderver, Adeline

A novel iPSC model of Bryant-Li-Bhoj neurodevelopmental/neurodegenerative syndrome demonstrates the role of histone H3.3 in chromatin dynamics, neuronal differentiation, and maturation.

Bryant-Li-Bhoj 神经发育/神经退行性疾病的新型 iPSC 模型表明组蛋白 H3.3 在染色质动力学、神经元分化和成熟中的作用。

Sangree Annabel K, Angireddy Rajesh, Bhattarai Janardhan P, Wang Yingqi, Bryant Laura M, Waxman Elisa A, Layo-Carris Dana E, Durham Emily E, Katsura Kaitlin A, Lubin Emily E, Wang Xiao Min, Clark Kelly J, Ma Minghong, Bhoj Elizabeth J

Clinical and Neurodevelopmental Course in a Case of EFNB1-Related Craniofrontonasal Syndrome With Unrepaired Craniosynostosis

一例伴有未修复颅缝早闭的EFNB1相关颅额鼻综合征的临床和神经发育过程

Assing, Dominique L; Jolly, Danielle E; Gluschitz, Sarah; Nelson, Beverly; Li, Dong; Bhoj, Elizabeth J; Nomakuchi, Tomoki T; Sobering, Andrew K

Unique mineralization pattern revealed in TBCK syndrome mouse model

TBCK综合征小鼠模型中揭示的独特矿化模式

Katsura, Kaitlin A; Jiang, Yuchen; Didziokas, Marius; Badt, Nir Z; Dougherty, Sonia; Vining, Kyle H; Bhoj, Elizabeth J

Multimodal Characterization of Rodent Dental Development

啮齿动物牙齿发育的多模态表征

Jiang, Yuchen; Katsura, Kaitlin A; Badt, Nir Z; Didziokas, Marius; Dougherty, Sonia; Bhoj, Elizabeth J; Vining, Kyle H

Role of CAMK2D in neurodevelopment and associated conditions

CAMK2D在神经发育及相关疾病中的作用

Rigter, Pomme M F; de Konink, Charlotte; Dunn, Matthew J; Proietti Onori, Martina; Humberson, Jennifer B; Thomas, Matthew; Barnes, Caitlin; Prada, Carlos E; Weaver, K Nicole; Ryan, Thomas D; Caluseriu, Oana; Conway, Jennifer; Calamaro, Emily; Fong, Chin-To; Wuyts, Wim; Meuwissen, Marije; Hordijk, Eva; Jonkers, Carsten N; Anderson, Lucas; Yuseinova, Berfin; Polonia, Sarah; Beysen, Diane; Stark, Zornitza; Savva, Elena; Poulton, Cathryn; McKenzie, Fiona; Bhoj, Elizabeth; Bupp, Caleb P; Bézieau, Stéphane; Mercier, Sandra; Blevins, Amy; Wentzensen, Ingrid M; Xia, Fan; Rosenfeld, Jill A; Hsieh, Tzung-Chien; Krawitz, Peter M; Elbracht, Miriam; Veenma, Danielle C M; Schulman, Howard; Stratton, Margaret M; Küry, Sébastien; van Woerden, Geeske M

Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome

通过模拟EFNB1下游倒位的长程效应,我们结束了长达43年的颅额鼻综合征分子诊断历程。

Li, Dong; Matsuoka, Leticia S; Donoghue, Sarah; Hou, Cuiping; Strong, Alanna; McDonald-McGinn, Donna M; Whitaker, Linton; Taylor, Jesse; Bhoj, Elizabeth J; Hakonarson, Hakon; Zackai, Elaine H

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

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

BLOC1S1 变异导致溶酶体和自噬缺陷,从而引起髓鞘形成不足性脑白质营养不良伴癫痫性脑病。

De Pace, Raffaella; Gonzalez, Carlos Dominguez; Williamson, Chad D; Helman, Guy; Sanderson, Leslie E; Disanza, Brianna; Hsiao-Sánchez, Nicole; Pizzino, Amy; Muirhead, Kayla; Bonkowsky, Joshua L; Taft, Ryan J; Sannaa, Nouriya A; Dias, Patricia; Quintas, Ana Sofia; Mutlu, Mehmet Burak; Bas, Hasan; Oztürk, Hasan; Mojarrad, Majid; Alerasool, Masoome; Sheikhani, Shahriar; Jabbar, Hayder Kadhim; Issa, Awatif Hameed; Houlden, Henry; Zonic, Emir; Barakat, Tahsin Stefan; Tripolski, Kornelia; Romito, Antonio; Teferedegn, Eden; Vossough, Arastoo; Whitehead, Matthew T; Bhoj, Elizabeth; Ahrens-Nicklas, Rebecca C; Simons, Cas; Wolvetang, Ernst; van Ham, Tjakko J; Bertoli-Avella, Aida M; Maroofian, Reza; Bonifacino, Juan S; Vanderver, Adeline

MAJIQ-CLIN: A novel tool for the identification of Mendelian disease-causing variants from RNA-Seq data

MAJIQ-CLIN:一种从RNA-Seq数据中识别孟德尔遗传病致病变异的新工具

Aicher, Joseph K; Issakova, Dina; Slaff, Barry; Jewell, San; Lahens, Nicholas F; Grant, Gregory R; Baralle, Diana; Rosenfeld, Jill A; Scott, Daryl A; Bhoj, Elizabeth J; Barash, Yoseph