检索结果 - David, Alessia

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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EAP1 regulation of GnRH promoter activity is important for human pubertal timing 由 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

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

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A common TMPRSS2 variant has a protective effect against severe COVID-19 由 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

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Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency 由 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

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