Hasil Pencarian - Matthew Mort

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  1. 1
    Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease

    Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease oleh Mónica Lopes-Marques, Matthew Mort, João Carneiro, António Azevedo, Andreia P. Amaro, David N. Cooper, Luísa Azevedo

    Diterbitkan 2024-02-01
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  2. 2
    An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome

    An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome oleh Michael Ferlaino, Mark F. Rogers, Hashem A. Shihab, Matthew Mort, David N. Cooper, Tom R. Gaunt, Colin Campbell

    Diterbitkan 2017-10-01
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  3. 3
    The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease.

    The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease. oleh Jose Lugo-Martinez, Vikas Pejaver, Kymberleigh A Pagel, Shantanu Jain, Matthew Mort, David N Cooper, Sean D Mooney, Predrag Radivojac

    Diterbitkan 2016-08-01
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  4. 4
    The sequencing and interpretation of the genome obtained from a Serbian individual.

    The sequencing and interpretation of the genome obtained from a Serbian individual. oleh Wazim Mohammed Ismail, Kymberleigh A Pagel, Vikas Pejaver, Simo V Zhang, Sofia Casasa, Matthew Mort, David N Cooper, Matthew W Hahn, Predrag Radivojac

    Diterbitkan 2018-01-01
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  5. 5
    Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome.

    Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome. oleh Kymberleigh A Pagel, Danny Antaki, AoJie Lian, Matthew Mort, David N Cooper, Jonathan Sebat, Lilia M Iakoucheva, Sean D Mooney, Predrag Radivojac

    Diterbitkan 2019-06-01
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  6. 6
    Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

    Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease oleh Anna Caciotti, Rodolfo Tonin, Matthew Mort, David N. Cooper, Serena Gasperini, Miriam Rigoldi, Rossella Parini, Federica Deodato, Roberta Taurisano, Michelina Sibilio, Giancarlo Parenti, Renzo Guerrini, Amelia Morrone

    Diterbitkan 2018-10-01
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  7. 7
    Accurate identification of genes associated with brain disorders by integrating heterogeneous genomic data into a Bayesian frameworkResearch in context

    Accurate identification of genes associated with brain disorders by integrating heterogeneous genomic data into a Bayesian frameworkResearch in context oleh Dan He, Ling Li, Huasong Zhang, Feiyi Liu, Shaoying Li, Xuehao Xiu, Cong Fan, Mengling Qi, Meng Meng, Junping Ye, Matthew Mort, Peter D. Stenson, David N. Cooper, Huiying Zhao

    Diterbitkan 2024-09-01
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  8. 8
    Inferring the molecular and phenotypic impact of amino acid variants with MutPred2

    Inferring the molecular and phenotypic impact of amino acid variants with MutPred2 oleh Vikas Pejaver, Jorge Urresti, Jose Lugo-Martinez, Kymberleigh A. Pagel, Guan Ning Lin, Hyun-Jun Nam, Matthew Mort, David N. Cooper, Jonathan Sebat, Lilia M. Iakoucheva, Sean D. Mooney, Predrag Radivojac

    Diterbitkan 2020-11-01
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  9. 9
    Expanding drug targets for 112 chronic diseases using a machine learning-assisted genetic priority score

    Expanding drug targets for 112 chronic diseases using a machine learning-assisted genetic priority score oleh Robert Chen, Áine Duffy, Ben O. Petrazzini, Ha My Vy, David Stein, Matthew Mort, Joshua K. Park, Avner Schlessinger, Yuval Itan, David N. Cooper, Daniel M. Jordan, Ghislain Rocheleau, Ron Do

    Diterbitkan 2024-10-01
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  10. 10
    RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants

    RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants oleh Hai Lin, Katherine A. Hargreaves, Rudong Li, Jill L. Reiter, Yue Wang, Matthew Mort, David N. Cooper, Yaoqi Zhou, Chi Zhang, Michael T. Eadon, M. Eileen Dolan, Joseph Ipe, Todd C. Skaar, Yunlong Liu

    Diterbitkan 2019-11-01
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  11. 11
    A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations.

    A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations. oleh Xiaomu Wei, Jishnu Das, Robert Fragoza, Jin Liang, Francisco M Bastos de Oliveira, Hao Ran Lee, Xiujuan Wang, Matthew Mort, Peter D Stenson, David N Cooper, Steven M Lipkin, Marcus B Smolka, Haiyuan Yu

    Diterbitkan 2014-12-01
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  12. 12
    Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

    Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations oleh Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

    Diterbitkan 2019-09-01
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