Search Results - David, Alessia

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  1. 1
    Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders

    Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders by Ittisoponpisan, Sirawit, David, Alessia

    Published 2018
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  2. 2
    The Contribution of Missense Mutations in Core and Rim Residues of Protein–Protein Interfaces to Human Disease

    The Contribution of Missense Mutations in Core and Rim Residues of Protein–Protein Interfaces to Human Disease by David, Alessia, Sternberg, Michael J.E.

    Published 2015
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  3. 3
    PhenoRank: reducing study bias in gene prioritization through simulation

    PhenoRank: reducing study bias in gene prioritization through simulation by Cornish, Alex J, David, Alessia, Sternberg, Michael J E

    Published 2018
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  4. 4
    Landscape of Pleiotropic Proteins Causing Human Disease: Structural and System Biology Insights

    Landscape of Pleiotropic Proteins Causing Human Disease: Structural and System Biology Insights by Ittisoponpisan, Sirawit, Alhuzimi, Eman, Sternberg, Michael J. E., David, Alessia

    Published 2017
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  5. 5
    Missense3D-DB web catalogue: an atom-based analysis and repository of 4M human protein-coding genetic variants

    Missense3D-DB web catalogue: an atom-based analysis and repository of 4M human protein-coding genetic variants by Khanna, Tarun, Hanna, Gordon, Sternberg, Michael J. E., David, Alessia

    Published 2021
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  6. 6
    The AlphaFold Database of Protein Structures: A Biologist’s Guide

    The AlphaFold Database of Protein Structures: A Biologist’s Guide by David, Alessia, Islam, Suhail, Tankhilevich, Evgeny, Sternberg, Michael J.E.

    Published 2022
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  7. 7
    Exploring the cellular basis of human disease through a large-scale mapping of deleterious genes to cell types

    Exploring the cellular basis of human disease through a large-scale mapping of deleterious genes to cell types by Cornish, Alex J., Filippis, Ioannis, David, Alessia, Sternberg, Michael J.E.

    Published 2015
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  8. 8
    Properties of human genes guided by their enrichment in rare and common variants

    Properties of human genes guided by their enrichment in rare and common variants by Alhuzimi, Eman, Leal, Luis G., Sternberg, Michael J.E., David, Alessia

    Published 2017
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  9. 9
    Three‐Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence‐Structure Analysis of its Disease‐Causing Variations

    Three‐Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence‐Structure Analysis of its Disease‐Causing Variations by Metherell, Louise A, Guerra‐Assunção, José Afonso, Sternberg, Michael J, David, Alessia

    Published 2016
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  10. 10
    Genetic Defects in the Growth Hormone–IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth

    Genetic Defects in the Growth Hormone–IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth by Savage, Martin O., Hwa, Vivian, David, Alessia, Rosenfeld, Ron G., Metherell, Louise A.

    Published 2011
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  11. 11
    Repair of Aberrant Splicing in Growth Hormone Receptor by Antisense Oligonucleotides Targeting the Splice Sites of a Pseudoexon

    Repair of Aberrant Splicing in Growth Hormone Receptor by Antisense Oligonucleotides Targeting the Splice Sites of a Pseudoexon by David, Alessia, Srirangalingam, Umasuthan, Metherell, Louise A., Khoo, Bernard, Clark, Adrian J. L.

    Published 2010
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  12. 12
    Can Predicted Protein 3D Structures Provide Reliable Insights into whether Missense Variants Are Disease Associated?

    Can Predicted Protein 3D Structures Provide Reliable Insights into whether Missense Variants Are Disease Associated? by Ittisoponpisan, Sirawit, Islam, Suhail A., Khanna, Tarun, Alhuzimi, Eman, David, Alessia, Sternberg, Michael J.E.

    Published 2019
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  13. 13
    A polygenic biomarker to identify patients with severe hypercholesterolemia of polygenic origin

    A polygenic biomarker to identify patients with severe hypercholesterolemia of polygenic origin by Leal, Luis G., Hoggart, Clive, Jarvelin, Marjo‐Riitta, Herzig, Karl‐Heinz, Sternberg, Michael J. E., David, Alessia

    Published 2020
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  14. 14
    Identification of disease-associated loci using machine learning for genotype and network data integration

    Identification of disease-associated loci using machine learning for genotype and network data integration by Leal, Luis G, David, Alessia, Jarvelin, Marjo-Riita, Sebert, Sylvain, Männikkö, Minna, Karhunen, Ville, Seaby, Eleanor, Hoggart, Clive, Sternberg, Michael J E

    Published 2019
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  15. 15
    GWYRE: A Resource for Mapping Variants onto Experimental and Modeled Structures of Human Protein Complexes

    GWYRE: A Resource for Mapping Variants onto Experimental and Modeled Structures of Human Protein Complexes by Malladi, Sukhaswami, Powell, Harold R., David, Alessia, Islam, Suhail A., Copeland, Matthew M., Kundrotas, Petras J., Sternberg, Michael J.E., Vakser, Ilya A.

    Published 2022
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  16. 16
    Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty

    Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty by Saengkaew, Tansit, Ruiz-Babot, Gerard, David, Alessia, Mancini, Alessandra, Mariniello, Katia, Cabrera, Claudia P., Barnes, Michael R., Dunkel, Leo, Guasti, Leonardo, Howard, Sasha R.

    Published 2021
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  17. 17
    EAP1 regulation of GnRH promoter activity is important for human pubertal timing

    EAP1 regulation of GnRH promoter activity is important for human pubertal timing by Mancini, Alessandra, Howard, Sasha R, Cabrera, Claudia P, Barnes, Michael R, David, Alessia, Wehkalampi, Karoliina, Heger, Sabine, Lomniczi, Alejandro, Guasti, Leonardo, Ojeda, Sergio R, Dunkel, Leo

    Published 2019
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  18. 18
    PhyreRisk: A Dynamic Web Application to Bridge Genomics, Proteomics and 3D Structural Data to Guide Interpretation of Human Genetic Variants

    PhyreRisk: A Dynamic Web Application to Bridge Genomics, Proteomics and 3D Structural Data to Guide Interpretation of Human Genetic Variants by Ofoegbu, Tochukwu C., David, Alessia, Kelley, Lawrence A., Mezulis, Stefans, Islam, Suhail A., Mersmann, Sophia F., Strömich, Léonie, Vakser, Ilya A., Houlston, Richard S., Sternberg, Michael J.E.

    Published 2019
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  19. 19
    A common TMPRSS2 variant has a protective effect against severe COVID-19

    A common TMPRSS2 variant has a protective effect against severe COVID-19 by David, Alessia, Parkinson, Nicholas, Peacock, Thomas P, Pairo-Castineira, Erola, Khanna, Tarun, Cobat, Aurelie, Tenesa, Albert, Sancho-Shimizu, Vanessa, Casanova, Jean-Laurent, Abel, Laurent, Barclay, Wendy S., Baillie, J.Kenneth, Sternberg, Michael JE

    Published 2022
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  20. 20
    Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency

    Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency by Vairamani, Kanimozhi, Merjaneh, Lina, Casano-Sancho, Paula, Sanli, Merve Emecen, David, Alessia, Metherell, Louise A., Savage, Martin O., Sánchez del Pozo, Jaime, Backeljauw, Philippe F., Rosenfeld, Ron G., Aisenberg, Javier, Dauber, Andrew, Hwa, Vivian

    Published 2017
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