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个人简介
We are interested in the molecular mechanisms that cause critical illness in infants and children. We enroll patients with birth defects or other critical illness that cannot be explained by an acquired illness and perform exome sequencing in order to identify candidate genes that may explain the child's disease. Then we model the candidate gene in order to understand its function. In the context of birth defects, we employ the high-throughput human disease model, Xenopus tropicalis in which we can knockout desired genes and examine consequent phenotypes in just three days.
Traditionally gene discovery in these patients was very challenging, but now not only is candidate gene discovery feasible but we can rapidly model the human disease and understand gene function in model organisms or patient cells depending on the optimal approach.
Traditionally gene discovery in these patients was very challenging, but now not only is candidate gene discovery feasible but we can rapidly model the human disease and understand gene function in model organisms or patient cells depending on the optimal approach.
研究兴趣
论文共 135 篇作者统计合作学者相似作者
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Abdullah,Shabir Hussain,Weizhen Ji,Hammal Khan,Emily K. Mis, Rabiha Mushtaq, Mirub Chodhary, Muhammad Hassan Raza,Abid Jan,Imran Ullah,Mustafa K. Khokha,Saquib A. Lakhani,
CLINICAL GENETICSno. 1 (2024): 109-111
Matthew P. O'Brien,Marina V. Pryzhkova,Evelyn M. R. Lake,Francesca Mandino,Xilin Shen,Ruchika Karnik, Alisa Atkins, Michelle J. Xu,Weizhen Ji,Monica Konstantino,Martina Brueckner,Laura R. Ment,
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCESno. 1 (2024): 430
Lauren Jeffries,Emily K. Mis,Kirsty McWalter,Sandra Donkervoort,Nina N. Brodsky,Jean-Marie Carpier,Weizhen Ji, Cristian Ionita, Bhaskar Roy,Jon S. Morrow,Armine Darbinyan, Krishna Iyer,
GENETICS IN MEDICINEno. 2 (2024): 101023-101023
Vaughn Colleluori,Mustafa K Khokha
EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 656-657
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Developmental cellno. 22 (2023): 2597-2613.e4
Abdullah,Shabir Hussain,Weizhen Ji,Hammal Khan,Emily K Mis,Rabiha Mushtaq,Mirub Chodhary, Muhammad Hassan Raza,Abid Jan,Imran Ullah,Mustafa K Khokha,Saquib A Lakhani,
Clinical geneticsno. 1 (2023): 109-111
E. Deniz, M. Pasha, M.E. Guerra, S. Viviano, W. Ji, M. Konstantino, L. Jeffries, S.A. Lakhani, L. Medne, C. Skraban, I. Krantz,M.K. Khokha
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DEVELOPMENTAL CELLno. 22 (2023): 2597-+
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