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

Dysregulation of mTOR signalling is a converging mechanism in lissencephaly

mTOR 信号失调是无脑畸形的一种收敛机制

Ce Zhang, Dan Liang, A Gulhan Ercan-Sencicek, Aybike S Bulut, Joelly Cortes, Iris Q Cheng, Octavian Henegariu, Sayoko Nishimura, Xinyuan Wang, A Buket Peksen, Yutaka Takeo, Caner Caglar, TuKiet T Lam, Merve Nur Koroglu, Anand Narayanan, Francesc Lopez-Giraldez, Danielle F Miyagishima, Ketu Mishra-Go

Subgroup of meningiomas involving FOS and FOSB gene fusions

涉及FOS和FOSB基因融合的脑膜瘤亚组

Yalcin, Kanat; Alanya, Hasan; Gultekin, Batur; Samper Figuera, Diego; Barak, Tanyeri; Miyagishima, Danielle F; Youngblood, Mark W; Hjerthen, Mateo Gomez; Brooks, Amos; Samuel Lopez, Natalia; O'Brien, Joseph; Chavez, Miguel Millares; Dincer, Alper; Wu, Hao; Omay, S Bulent; Yasuno, Katsuhito; Bilguvar, Kaya; Ercan-Sencicek, A Gulhan; Mishra-Gorur, Ketu; McGuone, Declan; Moliterno, Jennifer; Gunel, Murat; Erson-Omay, E Zeynep

Somatic SMARCB1 mutation in spinal meningioma represents branched evolution in a patient with multiple sporadic meningiomas

脊髓脑膜瘤中的体细胞SMARCB1突变代表了多发性散发性脑膜瘤患者的分支演化

Gupta, Mihir; Samiappan, Sathish Prabu Sathyamangalam; Alanya, Hasan; Yalcin, Kanat; Gultekin, Batur; Sharaf, Radwa; Elsamadicy, Aladine A; Figuera, Diego Samper; Samuel, Natalia; Mishra-Gorur, Ketu; Kolb, Luis; McGuone, Declan; Gunel, Murat; Erson-Omay, E Zeynep; Moliterno, Jennifer; Mendel, Ehud

Dysregulation of Protein Kinase CaMKI Leads to Autism-Related Phenotypes in Synaptic Connectivity, Sleep, Sociality, and Aging-Dependent Degeneration in Drosophila

果蝇中蛋白激酶CaMKI失调导致突触连接、睡眠、社交和衰老依赖性退化等方面出现自闭症相关表型

Gualtieri, Claudia; Smith, Zachary M; Cruz, Abby; Khan, Ziam; Jenkins, Conor; Mishra-Gorur, Ketu; Vonhoff, Fernando J

Case Report: Genomic characterization of a rare skull-base plasmacytoma

病例报告:罕见颅底浆细胞瘤的基因组特征分析

Alanya, Hasan; Kasturi, Sreekar; Yalcin, Kanat; Gultekin, Batur; Kumar, Deepika; Samuel, Natalia; Figuera, Diego Samper; Mishra-Gorur, Ketu; Gunel, Murat; Erson-Omay, E Zeynep; Omay, S Bulent

Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease

回复 Pisan 等人:先天性心脏病中遗传性 TRAF7 突变的致病性

Mishra-Gorur, Ketu; Barak, Tanyeri; Kaulen, Leon D; Henegariu, Octavian; Jin, Sheng Chih; Aguilera, Stephanie Marie; Yalbir, Ezgi; Goles, Gizem; Nishimura, Sayoko; Miyagishima, Danielle; Djenoune, Lydia; Altinok, Selin; Rai, Devendra K; Viviano, Stephen; Prendergast, Andrew; Zerillo, Cynthia; Ozcan, Kent; Baran, Burcin; Sencar, Leman; Goc, Nukte; Yarman, Yanki; Ercan-Encicek, A Gulhan; Bilguvar, Kaya; Lifton, Richard P; Moliterno, Jennifer; Louvi, Angeliki; Yuan, Shiaulou; Deniz, Engin; Brueckner, Martina; Gunel, Murat

CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow

CC2D1A 导致纤毛病、智力障碍、异位症、肾发育不良和脑脊液流动异常

Angelina Haesoo Kim, Irmak Sakin, Stephen Viviano, Gulten Tuncel, Stephanie Marie Aguilera, Gizem Goles, Lauren Jeffries, Weizhen Ji, Saquib A Lakhani, Canan Ceylan Kose, Fatma Silan, Sukru Sadik Oner, Oktay I Kaplan; MarmaRare Group; Mahmut Cerkez Ergoren, Ketu Mishra-Gorur, Murat Gunel, Sebnem Oze

Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease

TRAF7 在颅底脑膜瘤和先天性心脏病中的多效性作用

Ketu Mishra-Gorur, Tanyeri Barak, Leon D Kaulen, Octavian Henegariu, Sheng Chih Jin, Stephanie Marie Aguilera, Ezgi Yalbir, Gizem Goles, Sayoko Nishimura, Danielle Miyagishima, Lydia Djenoune, Selin Altinok, Devendra K Rai, Stephen Viviano, Andrew Prendergast, Cynthia Zerillo, Kent Ozcan, Burcin Bar

Hybrid classification model for eye state detection using electroencephalogram signals

基于脑电图信号的眼状态检测混合分类模型

Ketu, Shwet; Mishra, Pramod Kumar

Genomic profiling of sporadic multiple meningiomas

散发性多发性脑膜瘤的基因组分析

Erson-Omay, E Zeynep; Vetsa, Shaurey; Vasandani, Sagar; Barak, Tanyeri; Nadar, Arushii; Marianayagam, Neelan J; Yalcin, Kanat; Miyagishima, Danielle; Aguilera, Stephanie Marie; Robert, Stephanie; Mishra-Gorur, Ketu; Fulbright, Robert K; McGuone, Declan; Günel, Murat; Moliterno, Jennifer