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

Expansion of Molecular and Clinical Aspects of EPS8L2 (DFNB106)-Associated Hearing Loss Emphasizes a Potential Therapeutic Window

EPS8L2 (DFNB106) 相关性听力损失的分子和临床方面的研究拓展,凸显了潜在的治疗窗口

Owrang, Daniel; Rad, Aboulfazl; Alerasool, Masoome; Kolb, Susanne M; Lin, Sheng-Jia; Doll, Julia; Alidadiani, Neda; Ghaderi, Shahrooz; Hofrichter, Michaela A H; Maroofian, Reza; Varshney, Gaurav K; Mojarrad, Majid; Bartsch, Oliver; Haaf, Thomas; Vona, Barbara

Comprehensive Clinical, Diagnostic, and In Silico Assessment of a Novel 1p36.33p36.32 Copy Number Variant

对一种新型 1p36.33p36.32 拷贝数变异进行全面的临床、诊断和计算机模拟评估

Eslahi, Atieh; Kahaei, Mir Salar; Shirvan, Bita Barazandeh; Alerasool, Masoome; Tabarestani, Sepideh; Rezaie, Razie; Hashemi, Narges; Akhondian, Javad; Arabi, Mobina; Ebrahimzadeh, Farnoosh; Toosi, Mehran Beiraghi; Mojarrad, Majid

Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.

在自闭症谱系障碍患者中发现了KDM5A的单等位基因和双等位基因变异。

El Hayek Lauretta, Gogate Ashlesha, Chen Wei-Chen, Kaur Kiran, Zaki Maha S, De Wachter Matthias, Van Schil Kristof, Dublin-Ryan Leeran, Zamani Mina, Bartos Meghan N, Hiatt Susan M, Courdier Cécile, Michaud Vincent, Kenny Janna, Day Michael, Pang Lewis, Nasab Mahya Ebrahimi, Madani Manshadi Seyed Ali, Eslahi Atieh, Rasoul Masoomeh Ale, Sanchez-Mendoza Eduardo Humberto, DeLuca Charles, Marafi Dana, Stevens Servi J C, Ivanovski Ivan, Frey Tanja, Steindl Katharina, Rauch Anita, O'Connor Kaitlyn, Velinov Milen, Shen Xiaoming, Janssen Etienne J M, Sedighzadeh Sahar, Kordi-Tamandani Dor Mohammad, Khajeh Ali, Elshafie Reem M, Bastaki Laila, Misra Vinod K, Firoozfar Zahra, Goldenberg Paula C, Toosi Mehran Beiraghi, Mojarrad Majid, Kavanagh Karl, Koboldt Daniel C, Margot Henri, Hurst Anna C E, Weber Axel, Bergmann Carsten, Houlden Henry, Maroofian Reza, Weis Denisa, Ceulemans Berten, Chahrour Maria H

Enhancement of prime editing by recruiting engineered or evolved components and implementing novel strategies

通过招募工程化或进化后的组件并实施新策略来增强主编辑功能

Arabi, Mobina; Alizadeh, Farzaneh; Yousefi, Yasamin; Afarandeh, Hamed; Mozaffari Jovin, Sina; Eslahi, Atieh; Mojarrad, Majid

Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review

报告一种与高磷酸酶症和智力障碍相关的PGAP3基因新型致病变异:病例报告及文献综述

Salmaninejad, Arash; Seyedtaghia, Mohammad Reza; Bereshneh, Ali Hosseini; Azizi, Nasrin; Bayat, Reza; Esnaashari, Somaye; Aminzadeh, Vahid; Koohmanaee, Shahin; Savad, Shahram; Mojarrad, Majid; Dalili, Setila

ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration

ADAT3 变体破坏 ADAT tRNA 脱氨酶复合物的活性,并损害神经元迁移。

Del-Pozo-Rodriguez, Jordi; Tilly, Peggy; Lecat, Romain; Vaca, Hugo Rolando; Mosser, Laureline; Brivio, Elena; Balla, Till; Gomes, Marina Vitoria; Ramos-Morales, Elizabeth; Schwaller, Noémie; Salinas-Giegé, Thalia; VanNoy, Grace; England, Eleina M; Kern Lovgren, Alysia; O'Leary, Melanie; Chopra, Maya; Meave Ojeda, Naomi; Toosi, Mehran Beiraghi; Eslahi, Atieh; Alerasool, Masoome; Mojarrad, Majid; Pais, Lynn S; Yeh, Rebecca C; Gable, Dustin L; Hashem, Mais O; Abdulwahab, Firdous; Rakiz Alqurashi, Muath; Sbeih, Loai Z; Adas Blanco, Omar Abu; Khater, Renad Abu; Oprea, Gabriela; Rad, Aboulfazl; Alzaidan, Hamad; Aldhalaan, Hesham; Tous, Ehab; Alsagheir, Afaf; Alowain, Mohammed; Tamim, Abdullah; Alfayez, Khowlah; Alhashem, Amal; Alnuzha, Aisha; Kamel, Mona; Al-Awam, Bashayer S; Elnaggar, Walaa; Almenabawy, Nihal; O'Donnell-Luria, Anne; Neil, Jennifer E; Gleeson, Joseph G; Walsh, Christopher A; Alkuraya, Fowzan S; AlAbdi, Lama; Elkhateeb, Nour; Selim, Laila; Srivastava, Siddharth; Nedialkova, Danny D; Drouard, Laurence; Romier, Christophe; Bayam, Efil; Godin, Juliette D

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

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

翻译GTP酶GTPBP1和GTPBP2的双等位基因变异会导致一种独特的、相同的神经发育综合征。

Salpietro, Vincenzo; Maroofian, Reza; Zaki, Maha S; Wangen, Jamie; Ciolfi, Andrea; Barresi, Sabina; Efthymiou, Stephanie; Lamaze, Angelique; Aughey, Gabriel N; Al Mutairi, Fuad; Rad, Aboulfazl; Rocca, Clarissa; Calì, Elisa; Accogli, Andrea; Zara, Federico; Striano, Pasquale; Mojarrad, Majid; Tariq, Huma; Giacopuzzi, Edoardo; Taylor, Jenny C; Oprea, Gabriela; Skrahina, Volha; Rehman, Khalil Ur; Abd Elmaksoud, Marwa; Bassiony, Mahmoud; El Said, Huda G; Abdel-Hamid, Mohamed S; Al Shalan, Maha; Seo, Gohun; Kim, Sohyun; Lee, Hane; Khang, Rin; Issa, Mahmoud Y; Elbendary, Hasnaa M; Rafat, Karima; Marinakis, Nikolaos M; Traeger-Synodinos, Joanne; Ververi, Athina; Sourmpi, Mara; Eslahi, Atieh; Khadivi Zand, Farhad; Beiraghi Toosi, Mehran; Babaei, Meisam; Jackson, Adam; Bertoli-Avella, Aida; Pagnamenta, Alistair T; Niceta, Marcello; Battini, Roberta; Corsello, Antonio; Leoni, Chiara; Chiarelli, Francesco; Dallapiccola, Bruno; Faqeih, Eissa Ali; Tallur, Krishnaraya K; Alfadhel, Majid; Alobeid, Eman; Maddirevula, Sateesh; Mankad, Kshitij; Banka, Siddharth; Ghayoor-Karimiani, Ehsan; Tartaglia, Marco; Chung, Wendy K; Green, Rachel; Alkuraya, Fowzan S; Jepson, James E C; Houlden, Henry

An extensive in silico analysis of missense mutations of the human AIMP2 gene

对人类AIMP2基因错义突变进行广泛的计算机模拟分析

Farrokhi, Shima; Eslahi, Atieh; Alizadeh, Farzaneh; Farshchian, Zahra; Yousefi, Yasamin; Mojarrad, Majid