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

Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements

GOT2 缺乏症的全面基因型、表型和生化特征分析：一种伴有癫痫和异常运动的进行性神经发育障碍

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2025.101587
German, Hannah M; Zaki, Maha S; Usmani, Muhammad A; Karagoz, Irem; Efthymiou, Stephanie; Abdel-Hamid, Mohamed S; Arabiyat, Haya Abdelhafez; Ghaffar, Amama; Shahzad, Mohsin; van Bokhoven, Hans; Ahmed, Zubair M; Yaghini, Omid; Hosseini, Neda; Majidinezhad, Maede; Alavi, Shahryar; Bosma, Marjolein; Broeks, Melissa H; Türkdoğan, Dilşad; Suri, Mohnish; Laura de Godoy, Laiz; Verhoeven-Duif, Nanda M; Riazuddin, Sheikh; Gleeson, Joseph G; Alves, Cesar; Jans, Judith J M; Riazuddin, Saima; Houlden, Henry; Maroofian, Reza
发育与干细胞
神经科学
癫痫
发表日期：2025
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The Process of Transformation–The Core of Analytical Psychology and How it Can Be Investigated

转化过程——分析心理学的核心及其研究方法

期刊:Advances in Experimental Medicine and Biology
影响因子:
doi:10.1007/978-3-319-75402-4_27
Biswas, Pooja; Naeem, Muhammad Asif; Ali, Muhammad Hassaan; Assir, Muhammad Zaman; Khan, Shaheen N; Riazuddin, Sheikh; Hejtmancik, J Fielding; Riazuddin, S Amer; Ayyagari, Radha; Roesler, Christian
发表日期：2025
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Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly.

NAV3 是一种神经元形态发生蛋白，其变异会导致智力障碍、发育迟缓和小头畸形

期刊:Communications Biology
影响因子:5.1
doi:10.1038/s42003-024-06466-1
Ghaffar Amama, Akhter Tehmeena, Strømme Petter, Misceo Doriana, Khan Amjad, Frengen Eirik, Umair Muhammad, Isidor Bertrand, Cogné Benjamin, Khan Asma A, Bruel Ange-Line, Sorlin Arthur, Kuentz Paul, Chiaverini Christine, Innes A Micheil, Zech Michael, Baláž Marek, Havrankova Petra, Jech Robert, Ahmed Zubair M, Riazuddin Sheikh, Riazuddin Saima
神经科学
发表日期：2024
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Cassia Angustifolia Primed ASCs Accelerate Burn Wound Healing by Modulation of Inflammatory Response

番泻叶预处理的脂肪干细胞通过调节炎症反应加速烧伤创面愈合

期刊:Tissue Engineering and Regenerative Medicine
影响因子:4.1
doi:10.1007/s13770-023-00594-1
Tasneem, Saba; Ghufran, Hafiz; Azam, Maryam; Arif, Amna; Bin Umair, Musab; Yousaf, Muhammad Amin; Shahzad, Khurrum; Mehmood, Azra; Malik, Kausar; Riazuddin, Sheikh
发育与干细胞
炎症
炎症/感染
干细胞
细胞生物学
发表日期：2024
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Adipose Tissue and Umbilical Cord Tissue: Potential Sources of Mesenchymal Stem Cells for Liver Fibrosis Treatment

脂肪组织和脐带组织：治疗肝纤维化的潜在间充质干细胞来源

期刊:Journal of Clinical and Experimental Hepatology
影响因子:3.2
doi:10.1016/j.jceh.2024.101364
Ghufran, Hafiz; Azam, Maryam; Mehmood, Azra; Umair, Muhammad; Baig, Maria T; Tasneem, Saba; Butt, Hira; Riazuddin, Sheikh
细胞生物学
发育与干细胞
干细胞
发表日期：2024
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A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred

巴基斯坦某家族中HACE1基因错义变异与智力障碍、癫痫、痉挛和精神运动障碍相关

期刊:Genes
影响因子:2.8
doi:10.3390/genes15050580
Usmani, Muhammad A; Ghaffar, Amama; Shahzad, Mohsin; Akram, Javed; Majeed, Aisha I; Malik, Kausar; Fatima, Khushbakht; Khan, Asma A; Ahmed, Zubair M; Riazuddin, Sheikh; Riazuddin, Saima
癫痫
神经科学
发表日期：2024
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Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome

与严重佩罗综合征相关的CLPP纯合新型截断变异体

期刊:Clinical Genetics
影响因子:2.3
doi:10.1111/cge.14514
Faridi, Rabia; Stratton, Pamela; Salmeri, Noemi; Morell, Robert J; Khan, Asma Ali; Usmani, Muhammad A; Newman, William G; Riazuddin, Sheikh; Friedman, Thomas B
LPP
CLPP
发表日期：2024
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Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy

LRP2基因的变体编码一种多功能细胞表面内吞受体，与听力损失和视网膜营养不良有关。

期刊:Clinical Genetics
影响因子:2.3
doi:10.1111/cge.14312
Faridi, Rabia; Yousaf, Rizwan; Gu, Shoujun; Inagaki, Sayaka; Turriff, Amy E; Pelstring, Keith; Guan, Bin; Naik, Amelia; Griffith, Andrew J; Adadey, Samuel Mawuli; Aboagye, Elvis Twumasi; Awandare, Gordon A; Morell, Robert J; Tsilou, Ekaterini; Noyes, Amanda G; Sulmonte, Laura A G; Wonkam, Ambroise; Schrauwen, Isabelle; Leal, Suzanne M; Azaiez, Hela; Brewer, Carmen C; Riazuddin, Sheikh; Hufnagel, Robert B; Hoa, Michael; Zein, Wadih M; de Dios, J Karl; Friedman, Thomas B
信号转导
细胞生物学
LRP2
发表日期：2023
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Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability

SOX4基因的双等位基因框内缺失与发育迟缓、肌张力低下和智力障碍有关。

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-021-00968-w
Ghaffar, Amama; Rasheed, Faiza; Rashid, Muhammad; van Bokhoven, Hans; Ahmed, Zubair M; Riazuddin, Sheikh; Riazuddin, Saima
SOX4
发育与干细胞
SOX
发表日期：2022
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New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder

对佩罗综合征（一种临床和遗传异质性疾病）的新认识

期刊:Human Genetics
影响因子:3.6
doi:10.1007/s00439-021-02319-7
Faridi, Rabia; Rea, Alessandro; Fenollar-Ferrer, Cristina; O'Keefe, Raymond T; Gu, Shoujun; Munir, Zunaira; Khan, Asma Ali; Riazuddin, Sheikh; Hoa, Michael; Naz, Sadaf; Newman, William G; Friedman, Thomas B
发表日期：2022
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