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

Ccdc57 regulates cilia and left-right patterning in Xenopus.

Ccdc57 调控非洲爪蟾的纤毛和左右模式形成。

Yang Binyi, Mis Emily K, Zhou Xianglin, Aslam Faiza, He Jie, Lu Xiangyang, Fan Hui, Guo Ting, Deniz Engin, Luo Hong, Khokha Mustafa K

PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors.

PTEN 突变会通过扰乱脑室周围神经祖细胞来损害脑脊液动力学和皮层网络

DeSpenza Tyrone Jr, Kiziltug Emre, Allington Garrett, Barson Daniel G, McGee Stephen, O'Connor David, Robert Stephanie M, Mekbib Kedous Y, Nanda Pranav, Greenberg Ana B W, Singh Amrita, Duy Phan Q, Mandino Francesca, Zhao Shujuan, Lynn Anna, Reeves Benjamin C, Marlier Arnaud, Getz Stephanie A, Nelson-Williams Carol, Shimelis Hermela, Walsh Lauren K, Zhang Junhui, Wang Wei, Prina Mackenzi L, OuYang Annaliese, Abdulkareem Asan F, Smith Hannah, Shohfi John, Mehta Neel H, Dennis Evan, Reduron Laetitia R, Hong Jennifer, Butler William, Carter Bob S, Deniz Engin, Lake Evelyn M R, Constable R Todd, Sahin Mustafa, Srivastava Siddharth, Winden Kellen, Hoffman Ellen J, Carlson Marina, Gunel Murat, Lifton Richard P, Alper Seth L, Jin Sheng Chih, Crair Michael C, Moreno-De-Luca Andres, Luikart Bryan W, Kahle Kristopher T

Novel Variants in VARS2 Demonstrate the Phenotypic Variability of a Rare Mitochondriopathy That Responds to Valine Supplementation

VARS2 中的新变异揭示了一种罕见线粒体病的表型变异性,该病对缬氨酸补充剂有反应

Marquez, Jonathan; Viviano, Stephen; Rahman, Fahmid; Strohbehn, Samuel D; Allworth, Aimee; Perez, Norma; Saneto, Russell P; Anna, Scott 1st; Penón Portmann, Mónica; Blue, Elizabeth E; Glass, Ian A; Deniz, Engin; Shelkowitz, Emily

Polyamine metabolism is dysregulated in COXFA4-related mitochondrial disease

COXFA4相关线粒体疾病中多胺代谢紊乱

Marquez, Jonathan; Viviano, Stephen; Beckman, Erika; Thies, Jenny; Friedland-Little, Joshua; Lam, Christina T; Deniz, Engin; Shelkowitz, Emily

Unraveling the role of dysfunctional sleep beliefs: How chronotype shapes sleep quality and academic success in medical students

揭示睡眠观念失调的作用:睡眠类型如何影响医学生的睡眠质量和学业成绩

Altınöz, Şengül Tosun; Tarlacık, Leman Deniz; Engin, Esin; Uzel, Yaren; Doğan, Uğur; Altınöz, Ali Ercan

Precision medicine in the pediatric and neonatal intensive care units through genomics

通过基因组学实现儿科和新生儿重症监护病房的精准医疗

Duy, Phan Q; Dylik, Benjamin; Deniz, Engin

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

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

Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics

自闭症基因KATNAL2的致病变异会导致脑积水,并通过损害纤毛微管动力学来破坏神经元连接。

DeSpenza, Tyrone Jr; Singh, Amrita; Allington, Garrett; Zhao, Shujuan; Lee, Junghoon; Kiziltug, Emre; Prina, Mackenzi L; Desmet, Nicole; Dang, Huy Q; Fields, Jennifer; Nelson-Williams, Carol; Zhang, Junhui; Mekbib, Kedous Y; Dennis, Evan; Mehta, Neel H; Duy, Phan Q; Shimelis, Hermela; Walsh, Lauren K; Marlier, Arnaud; Deniz, Engin; Lake, Evelyn M R; Constable, R Todd; Hoffman, Ellen J; Lifton, Richard P; Gulledge, Allan; Fiering, Steven; Moreno-De-Luca, Andres; Haider, Shozeb; Alper, Seth L; Jin, Sheng Chih; Kahle, Kristopher T; Luikart, Bryan W

A retrospective cohort analysis of the Yale pediatric genomics discovery program

耶鲁大学儿科基因组学发现计划的回顾性队列分析

Al-Ali, Samir; Jeffries, Lauren; Faustino, E Vincent S; Ji, Weizhen; Mis, Emily; Konstantino, Monica; Zerillo, Cynthia; Jiang, Yong-Hui; Spencer-Manzon, Michele; Bale, Allen; Zhang, Hui; McGlynn, Julie; McGrath, James M; Tremblay, Thierry; Brodsky, Nina N; Lucas, Carrie L; Pierce, Richard; Deniz, Engin; Khokha, Mustafa K; Lakhani, Saquib A