Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration
Cipriani, Valentina, Lorés-Motta, Laura, He, Fan, Fathalla, Dina, Tilakaratna, Viranga, McHarg, Selina, Bayatti, Nadhim, Acar, İlhan E., Hoyng, Carel B., Fauser, Sascha, Moore, Anthony T., Yates, John R. W., de Jong, Eiko K., Morgan, B. Paul, den Hollander, Anneke I., Bishop, Paul N., Clark, Simon J.
Published in Nature communications (07.02.2020)
Published in Nature communications (07.02.2020)
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Journal Article
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project
Bourinaris, Thomas, Smedley, Damian, Cipriani, Valentina, Sheikh, Isabella, Athanasiou-Fragkouli, Alkyoni, Chinnery, Patrick, Morris, Huw, Real, Raquel, Harrison, Victoria, Reid, Evan, Wood, Nicholas, Vandrovcova, Jana, Houlden, Henry, Tucci, Arianna
Published in European journal of human genetics : EJHG (01.12.2020)
Published in European journal of human genetics : EJHG (01.12.2020)
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Journal Article
Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus
Cipriani, Valentina, Silva, Raquel S., Arno, Gavin, Pontikos, Nikolas, Kalhoro, Ambreen, Valeina, Sandra, Inashkina, Inna, Audere, Mareta, Rutka, Katrina, Puech, Bernard, Michaelides, Michel, van Heyningen, Veronica, Lace, Baiba, Webster, Andrew R., Moore, Anthony T.
Published in Scientific reports (08.08.2017)
Published in Scientific reports (08.08.2017)
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Journal Article
Natural History and Retinal Structure in Patients with Usher Syndrome Type 1 Owing to MYO7A Mutation
Lenassi, Eva, MD, PhD, Saihan, Zubin, MD, PhD, Cipriani, Valentina, PhD, Le Quesne Stabej, Polona, PhD, Moore, Anthony T., MD, FRCOphth, Luxon, Linda M., MD, CBE, FRCP, Bitner-Glindzicz, Maria, MD, PhD, Webster, Andrew R., MD, FRCOphth
Published in Ophthalmology (Rochester, Minn.) (01.02.2014)
Published in Ophthalmology (Rochester, Minn.) (01.02.2014)
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Journal Article
Benign Yellow Dot Maculopathy
Dev Borman, Arundhati, MD(Res), FRCOphth, Rachitskaya, Aleksandra, MD, Suzani, Martina, MD, Sisk, Robert A., MD, FACS, Ahmed, Zubair M., PhD, Holder, Graham E., PhD, Cipriani, Valentina, PhD, Arno, Gavin, PhD, Webster, Andrew R., MD(Res), FRCOphth, Hufnagel, Robert B., MD, PhD, Berrocal, Audina, MD, Moore, Anthony T., FRCOphth, FMedSci
Published in Ophthalmology (Rochester, Minn.) (01.07.2017)
Published in Ophthalmology (Rochester, Minn.) (01.07.2017)
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Journal Article
022 Functional genomics and transcriptomics further characterise and potentially improve diagnostic yield of hereditary ataxias
Chen, Zhongbo, Cipriani, Valentina, Zhang, David, Tucci, Arianna, Vestito, Letizia, Smedley, Damian, Houlden, Henry, Botia, Juan, Ryten, Mina
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2022)
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2022)
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Journal Article
Phenotype-aware prioritisation of rare Mendelian disease variants
Kelly, Catherine, Szabo, Anita, Pontikos, Nikolas, Arno, Gavin, Robinson, Peter N., Jacobsen, Jules O.B., Smedley, Damian, Cipriani, Valentina
Published in Trends in genetics (01.12.2022)
Published in Trends in genetics (01.12.2022)
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Journal Article
Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations
Cipriani, Valentina, Tierney, Anna, Griffiths, John R., Zuber, Verena, Sergouniotis, Panagiotis I., Yates, John R.W., Moore, Anthony T., Bishop, Paul N., Clark, Simon J., Unwin, Richard D.
Published in American journal of human genetics (05.08.2021)
Published in American journal of human genetics (05.08.2021)
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Journal Article
Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases
Jacobsen, Julius O B, Kelly, Catherine, Cipriani, Valentina, Robinson, Peter N, Smedley, Damian
Published in Briefings in bioinformatics (20.09.2022)
Published in Briefings in bioinformatics (20.09.2022)
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Journal Article
Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease
Jacobsen, Julius O. B., Kelly, Catherine, Cipriani, Valentina, Research Consortium, Genomics England, Mungall, Christopher J., Reese, Justin, Danis, Daniel, Robinson, Peter N., Smedley, Damian
Published in Human mutation (01.08.2022)
Published in Human mutation (01.08.2022)
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Journal Article
Y chromosome mosaicism is associated with age-related macular degeneration
Grassmann, Felix, Kiel, Christina, den Hollander, Anneke I, Weeks, Daniel E, Lotery, Andrew, Cipriani, Valentina, Weber, Bernhard H F
Published in European journal of human genetics : EJHG (01.01.2019)
Published in European journal of human genetics : EJHG (01.01.2019)
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Journal Article
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity
Benkirane, Mehdi, Bonhomme, Marion, Morsy, Heba, Safgren, Stephanie L, Marelli, Cecilia, Chaussenot, Annabelle, Smedley, Damian, Cipriani, Valentina, de Sainte-Agathe, Jean-Madeleine, Ding, Can, Larrieu, Lise, Vestito, Letizia, Margot, Henri, Lesca, Gaetan, Ramond, Francis, Castrioto, Anna, Baux, David, Verheijen, Jan, Sansa, Emna, Giunti, Paola, Haetty, Aline, Bergougnoux, Anne, Pointaux, Morgane, Ardouin, Olivier, van Goethem, Charles, Vincent, Marie-Claire, Hadjivassiliou, Marios, Cossée, Mireille, Rouaud, Tiphaine, Bartsch, Oliver, Freeman, William D, Wierenga, Klaas J, Klee, Eric W, Vandrovcova, Jana, Houlden, Henry, Debant, Anne, Koenig, Michel
Published in Brain (London, England : 1878) (04.11.2024)
Published in Brain (London, England : 1878) (04.11.2024)
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Journal Article
Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice
Leong, Ivone U S, Cabrera, Claudia P, Cipriani, Valentina, Ross, Paul J, Turner, Richard M, Stuckey, Alex, Sanghvi, Sonali, Pasko, Dorota, Moutsianas, Loukas, Odhams, Christopher A, Elgar, Greg S, Chan, Georgia, Giess, Adam, Walker, Susan, Foulger, Rebecca E, Williams, Eleanor M, Daugherty, Louise C, Rueda-Martin, Antonio, Rhodes, Daniel J, Niblock, Olivia, Pickard, Alexandra, Marks, Lauren, Leigh, Sarah E A, Welland, Matthew J, Bleda, Marta, Snow, Catherine, Deans, Zandra, Murugaesu, Nirupa, Scott, Richard H, Barnes, Michael R, Brown, Matthew A, Rendon, Augusto, Hill, Sue, Sosinsky, Alona, Caulfield, Mark J, McDonagh, Ellen M
Published in Journal of clinical oncology (31.10.2024)
Published in Journal of clinical oncology (31.10.2024)
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Journal Article
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data
Cipriani, Valentina, Pontikos, Nikolas, Arno, Gavin, Sergouniotis, Panagiotis I, Lenassi, Eva, Thawong, Penpitcha, Danis, Daniel, Michaelides, Michel, Webster, Andrew R, Moore, Anthony T, Robinson, Peter N, Jacobsen, Julius O B, Smedley, Damian
Published in Genes (23.04.2020)
Published in Genes (23.04.2020)
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Journal Article
Ophthalmic statistics note 7: multiple hypothesis testing—to adjust or not to adjust
Cipriani, Valentina, Quartilho, Ana, Bunce, Catey, Freemantle, Nick, Doré, Caroline J
Published in British journal of ophthalmology (01.09.2015)
Published in British journal of ophthalmology (01.09.2015)
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Journal Article
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity
Benkirane, Mehdi, Bonhomme, Marion, Morsy, Heba, Safgren, Stephanie, Marelli, Cecilia, Chaussenot, Annabelle, Smedley, Damian, Cipriani, Valentina, de Sainte Agathe, Jean-Madeleine, Ding, Can, Larrieu, Lise, Vestito, Letizia, Margot, Henri, Lesca, Gaetan, Ramond, Francis, Castrioto, Anna, Baux, David, Verheijen, Jan, Sansa, Emna, Giunti, Paola, Haetty, Aline, Bergougnoux, Anne, Pointaux, Morgane, Ardouin, Olivier, van Goethem, Charles, Vincent, Marie-Claire, Hadjivassiliou, Marios, Cossée, Mireille, Rouaud, Tiphaine, Bartsch, Oliver, Freeman, William, Wierenga, Klaas, Klee, Eric, Ambrose, J, Arumugam, P, Baple, E, Bleda, M, Boardman-Pretty, F, Boissiere, J, Boustred, C, Brittain, H, Caulfield, M, Chan, G, Craig, C, Daugherty, L, de Burca, A, Devereau, A, Elgar, G, Foulger, R, Fowler, T, Furió-Tarí, P, Hackett, J, Halai, D, Hamblin, A, Henderson, S, Holman, J, Hubbard, T, Ibáñez, K, Jackson, R, Jones, L, Kasperaviciute, D, Kayikci, M, Lahnstein, L, Lawson, K, Leigh, S, Leong, I, Lopez, F, Maleady-Crowe, F, Mason, J, Mcdonagh, E, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A, Odhams, C, Patch, C, Perez-Gil, D, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Savage, K, Sawant, K, Scott, R, Siddiq, A, Sieghart, A, Smedley, D, Smith, K, Sosinsky, A, Spooner, W, Stevens, H, Stuckey, A, Sultana, R, Thomas, E, Thompson, S, Tregidgo, C, Tucci, A
Published in Brain (London, England : 1878) (17.06.2024)
Published in Brain (London, England : 1878) (17.06.2024)
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Journal Article
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder
Pavinato, Lisa, Stanic, Jennifer, Barzasi, Marta, Gurgone, Antonia, Chiantia, Giuseppe, Cipriani, Valentina, Eberini, Ivano, Palazzolo, Luca, Di Luca, Monica, Costa, Alex, Marcantoni, Andrea, Biamino, Elisa, Spada, Marco, Hiatt, Susan M, Kelley, Whitley V, Vestito, Letizia, Sisodiya, Sanjay M, Efthymiou, Stephanie, Chand, Prem, Kaiyrzhanov, Rauan, Bruselles, Alessandro, Cardaropoli, Simona, Tartaglia, Marco, De Rubeis, Silvia, Buxbaum, Joseph D, Smedley, Damian, Ferrero, Giovanni Battista, Giustetto, Maurizio, Gardoni, Fabrizio, Brusco, Alfredo
Published in Genetics in medicine (01.11.2023)
Published in Genetics in medicine (01.11.2023)
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Journal Article
A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration
Strunz, Tobias, Lauwen, Susette, Kiel, Christina, Hollander, Anneke den, Weber, Bernhard H. F.
Published in Scientific reports (31.01.2020)
Published in Scientific reports (31.01.2020)
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Journal Article
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy
Silva, Raquel S., Arno, Gavin, Cipriani, Valentina, Pontikos, Nikolas, Defoort‐Dhellemmes, Sabine, Kalhoro, Ambreen, Carss, Keren J., Raymond, F. Lucy, Dhaenens, Claire Marie, Jensen, Hanne, Rosenberg, Thomas, Heyningen, Veronica, Moore, Anthony T., Puech, Bernard, Webster, Andrew R.
Published in Human mutation (01.05.2019)
Published in Human mutation (01.05.2019)
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Journal Article