1. A polygenic biomarker to identify patients with severe hypercholesterolemia of polygenic origin. Issue 6 (19th April 2020) Authors: Leal, Luis G.; Hoggart, Clive; Jarvelin, Marjo‐Riitta; Herzig, Karl‐Heinz; Sternberg, Michael J. E.; David, Alessia Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 6(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Can Predicted Protein 3D Structures Provide Reliable Insights into whether Missense Variants Are Disease Associated?. Issue 11 (17th May 2019) Authors: Ittisoponpisan, Sirawit; Islam, Suhail A.; Khanna, Tarun; Alhuzimi, Eman; David, Alessia; Sternberg, Michael J.E. Journal: Journal of molecular biology Issue: Volume 431:Issue 11(2019) Page Start: 2197 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. EAP1 regulation of GnRH promoter activity is important for human pubertal timing. (4th January 2019) Authors: 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 Journal: Human molecular genetics Issue: Volume 28:Number 8(2019) Page Start: 1357 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Exploring the cellular basis of human disease through a large-scale mapping of deleterious genes to cell types. Issue 1 (December 2015) Authors: Cornish, Alex; Filippis, Ioannis; David, Alessia; Sternberg, Michael Journal: Genome medicine Issue: Volume 7:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. GWYRE: A Resource for Mapping Variants onto Experimental and Modeled Structures of Human Protein Complexes. Issue 11 (15th June 2022) Authors: Malladi, Sukhaswami; Powell, Harold R.; David, Alessia; Islam, Suhail A.; Copeland, Matthew M.; Kundrotas, Petras J.; Sternberg, Michael J.E.; Vakser, Ilya A. Journal: Journal of molecular biology Issue: Volume 434:Issue 11(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. IGSF10 mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty. Issue 6 (13th April 2016) Authors: Howard, Sasha R; Guasti, Leonardo; Ruiz‐Babot, Gerard; Mancini, Alessandra; David, Alessia; Storr, Helen L; Metherell, Lousie A; Sternberg, Michael JE; Cabrera, Claudia P; Warren, Helen R; Barnes, Michael R; Quinton, Richard; de Roux, Nicolas; Young, Jacques; Guiochon‐Mantel, Anne; Wehkalamp... Journal: EMBO molecular medicine Issue: Volume 8:Issue 6(2016) Page Start: 626 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism. Issue 3 (September 2017) Authors: Salvatori, Roberto; Radian, Serban; Diekmann, Yoan; Iacovazzo, Donato; David, Alessia; Gabrovska, Plamena; Grassi, Giorgia; Bussell, Anna-Marie; Stals, Karen; Weber, Astrid; Quinton, Richard; Crowne, Elizabeth C; Corazzini, Valentina; Metherell, Lou; Kearney, Tara; Du Plessis, Daniel; Sinha, Ajay... Journal: European journal of endocrinology Issue: Volume 177:Issue 3(2017) Page Start: 257 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Landscape of Pleiotropic Proteins Causing Human Disease: Structural and System Biology Insights. Issue 3 (11th January 2017) Authors: Ittisoponpisan, Sirawit; Alhuzimi, Eman; Sternberg, Michael J. E.; David, Alessia Journal: Human mutation Issue: Volume 38:Issue 3(2017) Page Start: 289 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Lipid lowering with inclisiran: a real-world single-centre experience. Issue 2 (13th December 2022) Authors: Padam, Pritpal; Barton, Lucy; Wilson, Stewart; David, Alessia; Walji, Shahenaz; de Lorenzo, Ferruccio; Ray, Kausik K; Jones, Ben; Cegla, Jaimini Journal: Open heart Issue: Volume 9:Issue 2(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Properties of human genes guided by their enrichment in rare and common variants. Issue 3 (21st December 2017) Authors: Alhuzimi, Eman; Leal, Luis G.; Sternberg, Michael J.E.; David, Alessia Journal: Human mutation Issue: Volume 39:Issue 3(2018) Page Start: 365 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗