Majid Mojarrad

Mashhad University of Medical Sciences

H指数:23

被引数:1,896

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荣誉奖项

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Zygosity-Dependent Phenotypic Spectrum of RELN-Related Disorders: 10 New Patients and Genotype–Phenotype Correlations Across 48 Kindreds

杂合性依赖的<sup>RELN</sup>相关疾病表型谱：10例新患者及48个家系的基因型-表型相关性

Human Mutation

IF3.7

2026-09-180

OAAI

Sajjad Biglari; Halimeh Rezaei; Elnaz Asadollahzadeh; Mohammad Salimi Asl; Hamid Galehdari; Masoud Garshasbi; Emran Esmaeilzadeh; Raziyeh Khalesi; Payman Jamali; Farshid Parvini; Gholamreza Shariati; Niloofar Chamanrou; Reza Saligheh; Atefeh Sohanforooshan Moghaddam; Hamid Reza Khorram Khorshid; Sepideh Shohani; Samira Nafar; Atieh Eslahi; Mojtaba Lotfi; Behnoosh Bakhshoodeh; Fatemeh Hajizadeh; Saeed Abtahi; Reza Gharaei Jomehei; Hassan Vahidnezhad; Mehran Beiraghi Toosi; Morteza Heidari; Hanieh Mirzadeh; Majid Mojarrad; Mina Mohammadi Sarband; Ehsan Ghayoor Karimiani

Safety and preliminary efficacy of autologous bone marrow-derived mesenchymal stem cell transplantation in hereditary cerebellar ataxia: phase I/IIa clinical trial

自体骨髓来源间充质干细胞移植在遗传性小脑共济失调中的安全性与初步疗效：I/IIa期临床试验

Stem Cell Research & Therapy

IF7.3

2026-07-100

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

在自闭症谱系障碍患者中鉴定的单等位基因和双等位基因KDM5A变异

Human Genetics and Genomics Advances

IF3.6

2026-05-230

OAAI

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, Cecile; Michaud, Vincent; Kenny, Janna; Day, Michael; Pang, Lewis; Nasab, Mahya Ebrahimi; Manshadi, Seyed Ali Madani; 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.

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

BLOC1S1基因变异导致溶酶体和自噬缺陷，进而引发髓鞘形成不良性白质营养不良伴癫痫性脑病。

The American Journal of Human Genetics

IF0

2026-03-250

PRE

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

EPS8L2 (DFNB106)相关听力损失的分子和临床方面扩展强调了潜在的治疗窗口

Molecular Neurobiology

IF4.3

2026-01-100

OAAI

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

Del-Pozo-Rodriguez J, Tilly P, Lecat R, Vaca HR, Mosser L, Brivio E, et al. ADAT3变体破坏了ADAT tRNA脱氨酶复合物的活性并损害神经元迁移。Brain: J Neurol. (2025) 148:3407–21. doi: 10.1093/brain/awaf109

Brain

IF11.7

2025-03-220

OAAI

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

Deciphering the Genetic and Epidemiological Landscape of Inherited Retinal Diseases (IRDs) in a Cohort of Eastern Iranian Patients

解读东伊朗患者队列中遗传性视网膜疾病(IRDs)的遗传学和流行病学景观

CLINICAL GENETICS

IF2.3

2025-01-060

PRE

Enhancing Temozolomide (TMZ) chemosensitivity using CRISPR-dCas9-mediated downregulation of O6-methylguanine DNA methyltransferase (MGMT)

JOURNAL OF NEURO-ONCOLOGY

IF3.1

2024-05-191

PRE

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

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-01-013

OAAI

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; Cali, 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; Zand, Farhad Khadivi; Toosi, Mehran Beiraghi; 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

Design of a rapid electrochemical biosensor based on MXene/Pt/C nanocomposite and DNA/RNA hybridization for the detection of COVID-19

TALANTA

IF6.1

2023-12-0116

OAAI

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

BRAIN COMMUNICATIONS

IF4.5

2023-08-173

OAAI

Accogli, Andrea; Zaki, Maha S.; Al-Owain, Mohammed; Otaif, Mansour Y.; Jackson, Adam; Argilli, Emanuela; Chandler, Kate E.; De Goede, Christian G. E. L.; Cora, Tulun; Alvi, Javeria Raza; Eslahi, Atieh; Mohajeri, Mahsa Sadat Asl; Ashtiani, Setareh; Au, P. Y. Billie; Scocchia, Alicia; Alakurtti, Kirsi; Pagnamenta, Alistair T.; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Mojarrad, Majid; Arab, Fatemeh; Duymus, Fahrettin; Scantlebury, Morris H.; Yesil, Gozde; Rosenfeld, Jill Anne; Turkyilmaz, Ayberk; Sager, Safiye Gunes; Sultan, Tipu; Ashrafzadeh, Farah; Zahra, Tatheer; Rahman, Fatima; Maqbool, Shazia; Abdel-Hamid, Mohamed S.; Issa, Mahmoud Y.; Efthymiou, Stephanie; Bauer, Peter; Zifarelli, Giovanni; Salpietro, Vincenzo; Al-Hassnan, Zuhair; Banka, Siddharth; Sherr, Elliot H.; Gleeson, Joseph G.; Striano, Pasquale; Houlden, Henry; Genomics England Res Consortium, Mariasavina; Severino, Mariasavina; Maroofian, Reza

Production of Duchenne muscular dystrophy cellular model using CRISPR-Cas9 exon deletion strategy

使用CRISPR-Cas9外显子缺失策略生产Duchenne肌营养不良细胞模型

MOLECULAR AND CELLULAR BIOCHEMISTRY

IF3.7

2023-06-082

PRE

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2023-05-155

OAAI

Sczakiel, Henrike L.; Zhao, Max; Wollert-Wulf, Brigitte; Danyel, Magdalena; Ehmke, Nadja; Stoltenburg, Corinna; Damseh, Nadirah; Al-Ashhab, Motee; Balci, Tugce B.; Osmond, Matthew; Andrade, Andrea; Schallner, Jens; Porrmann, Joseph; McDonald, Kimberly; Liao, Mingjuan; Oppermann, Henry; Platzer, Konrad; Dierksen, Nadine; Mojarrad, Majid; Eslahi, Atieh; Bakaeean, Behnaz; Calame, Daniel G.; Lupski, James R.; Firoozfar, Zahra; Seyedhassani, Seyed Mohammad; Mohammadi, Seyed Ahmad; Anwaar, Najwa; Rahman, Fatima; Seelow, Dominik; Janz, Martin; Horn, Denise; Maroofian, Reza; Boschann, Felix

Sensitive and specific clinically diagnosis of SARS-CoV-2 employing a novel biosensor based on boron nitride quantum dots/flower-like gold nanostructures signal amplification

BIOSENSORS & BIOELECTRONICS

IF10.5

2022-07-0136