Search Results - "Lo Faro, Valeria"

Contribution of rare whole-genome sequencing variants to plasma protein levels and the missing heritability by Kierczak, Marcin, Rafati, Nima, Höglund, Julia, Gourlé, Hadrien, Lo Faro, Valeria, Schmitz, Daniel, Ek, Weronica E., Gyllensten, Ulf, Enroth, Stefan, Ekman, Diana, Nystedt, Björn, Karlsson, Torgny, Johansson, Åsa

“…Despite the success of genome-wide association studies, much of the genetic contribution to complex traits remains unexplained. Here, we analyse high coverage…”
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Copy number variations and their effect on the plasma proteome by Schmitz, Daniel, Li, Zhiwei, Lo Faro, Valeria, Rask-Andersen, Mathias, Ameur, Adam, Rafati, Nima, Johansson, Åsa

“…Abstract Structural variations, including copy number variations (CNVs), affect around 20 million bases in the human genome and are common causes of rare…”
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Genome-wide CNV investigation suggests a role for cadherin, Wnt, and p53 pathways in primary open-angle glaucoma by Lo Faro, Valeria, ten Brink, Jacoline B, Snieder, Harold, Jansonius, Nomdo M, Bergen, Arthur A

“…Abstract Background To investigate whether copy number variations (CNVs) are implicated in molecular mechanisms underlying primary open-angle glaucoma (POAG),…”
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Multi-ancestry polygenic risk scores for venous thromboembolism by Jee, Yon Ho, Thibord, Florian, Dominguez, Alicia, Sept, Corriene, Boulier, Kristin, Venkateswaran, Vidhya, Ding, Yi, Cherlin, Tess, Verma, Shefali Setia, Faro, Valeria Lo, Bartz, Traci M, Boland, Anne, Brody, Jennifer A, Deleuze, Jean-Francois, Emmerich, Joseph, Germain, Marine, Johnson, Andrew D, Kooperberg, Charles, Morange, Pierre-Emmanuel, Pankratz, Nathan, Psaty, Bruce M, Reiner, Alexander P, Smadja, David M, Sitlani, Colleen M, Suchon, Pierre, Tang, Weihong, Trégouët, David-Alexandre, Zöllner, Sebastian, Pasaniuc, Bogdan, Damrauer, Scott M, Sanna, Serena, Snieder, Harold, Kabrhel, Christopher, Smith, Nicholas L, Kraft, Peter

“…Abstract Venous thromboembolism (VTE) is a significant contributor to morbidity and mortality, with large disparities in incidence rates between Black and…”
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Mitochondrial Genome Study Identifies Association Between Primary Open-Angle Glaucoma and Variants in MT-CYB, MT-ND4 Genes and Haplogroups by Lo Faro, Valeria, Nolte, Ilja M, Ten Brink, Jacoline B, Snieder, Harold, Jansonius, Nomdo M, Bergen, Arthur A

“…Primary open-angle glaucoma (POAG) is an optic neuropathy characterized by death of retinal ganglion cells and atrophy of the optic nerve head. The…”
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Differences in clinical presentation of primary open‐angle glaucoma between African and European populations by Bonnemaijer, Pieter W. M., Lo Faro, Valeria, Sanyiwa, Anna J., Hassan, Hassan G., Cook, Colin, Van de Laar, Suzanne, Lemij, Hans G., Klaver, Caroline C. W., Jansonius, Nomdo M., Thiadens, Alberta A. H. J.

“…Purpose Primary open‐angle glaucoma (POAG) has been reported to occur more frequently in Africans, and to follow a more severe course compared to Europeans. We…”
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Influence of electromagnetic radiation emitted by daily-use electronic devices on the Eyemate® system in-vitro: a feasibility study by Invernizzi, Azzurra, Haykal, Shereif, Lo Faro, Valeria, Pennisi, Vincenzo, Choritz, Lars

“…Eyemate® is a system for the continual monitoring of intraocular pressure (IOP), composed of an intraocular sensor, and a hand-held reader device. As the…”
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A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus by Hardcastle, Alison J., Liskova, Petra, Bykhovskaya, Yelena, McComish, Bennet J., Davidson, Alice E., Inglehearn, Chris F., Li, Xiaohui, Choquet, Hélène, Habeeb, Mahmoud, Lucas, Sionne E. M., Sahebjada, Srujana, Pontikos, Nikolas, Lopez, Karla E. Rojas, Khawaja, Anthony P., Ali, Manir, Dudakova, Lubica, Skalicka, Pavlina, Van Dooren, Bart T. H., Geerards, Annette J. M., Haudum, Christoph W., Faro, Valeria Lo, Tenen, Abi, Simcoe, Mark J., Patasova, Karina, Yarrand, Darioush, Yin, Jie, Siddiqui, Salina, Rice, Aine, Farraj, Layal Abi, Chen, Yii-Der Ida, Rahi, Jugnoo S., Krauss, Ronald M., Theusch, Elisabeth, Charlesworth, Jac C., Szczotka-Flynn, Loretta, Toomes, Carmel, Meester-Smoor, Magda A., Richardson, Andrea J., Mitchell, Paul A., Taylor, Kent D., Melles, Ronald B., Aldave, Anthony J., Mills, Richard A., Cao, Ke, Chan, Elsie, Daniell, Mark D., Wang, Jie Jin, Rotter, Jerome I., Hewitt, Alex W., MacGregor, Stuart, Klaver, Caroline C. W., Ramdas, Wishal D., Craig, Jamie E., Iyengar, Sudha K., O’Brart, David, Jorgenson, Eric, Baird, Paul N., Rabinowitz, Yaron S., Burdon, Kathryn P., Hammond, Chris J., Tuft, Stephen J., Hysi, Pirro G.

“…Keratoconus is characterised by reduced rigidity of the cornea with distortion and focal thinning that causes blurred vision, however, the pathogenetic…”
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Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld‐Rieger syndrome by Lo Faro, Valeria, Siddiqui, Sorath N., Khan, Muhammad I., Villanueva‐Mendoza, Cristina, Cortés‐González, Vianney, Jansonius, Nomdo, Bergen, Arthur A. B., Micheal, Shazia

“…Purpose Axenfeld‐Rieger syndrome (ARS) is a rare autosomal dominant disorder that affects the anterior segment of the eye. The aim of this study was to examine…”
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Genotyping oral contraceptive users for venous thromboembolism risk by Lo Faro, Valeria, Johansson, Åsa

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Answer to the Hamlet-like dilemma of lipid metabolites causing senile macular degeneration by Lo Faro, Valeria

“…In this issue of Cell Reports Medicine, Han et al.1 conducted a multi-ancestry genetic and metabolomic analysis to investigate the causal relationships between…”
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The risk of venous thromboembolism in oral contraceptive users: the role of genetic factors—a prospective cohort study of 240,000 women in the UK Biobank by Lo Faro, Valeria, Johansson, Therese, Johansson, Åsa

“…More than 150 million women worldwide use oral contraceptives. Women with inherited thrombophilia and carriers of certain thrombophilia gene variants, such as…”
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Polygenic risk scores and risk stratification in deep vein thrombosis by Lo Faro, Valeria, Johansson, Therese, Höglund, Julia, Hadizadeh, Fatemeh, Johansson, Åsa

“…Deep vein thrombosis (DVT) is a complex disease, where 60 % of risk is due to genetic factors, such as the Factor V Leiden (FVL) variant. DVT is either…”
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Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease by Zhou, Wei, Tsuo, Kristin, Hirbo, Jibril B., Wang, Ying, Bhattacharya, Arjun, Zhao, Huiling, Surakka, Ida, Wolford, Brooke N., Lo Faro, Valeria, Lopera-Maya, Esteban A., Läll, Kristi, Favé, Marie-Julie, Chapman, Sinéad B., Karjalainen, Juha, Maasha, Mutaamba, Chavan, Sameer, Daya, Michelle, Ding, Yi, Feng, Yen-Chen A., Guare, Lindsay A., Gignoux, Christopher R., Graham, Sarah E., Ingold, Nathan, Ismail, Said I., Laisk, Triin, Lin, Kuang, Millwood, Iona Y., Moreno-Grau, Sonia, Nam, Kisung, Palta, Priit, Saad, Chadi, Setia-Verma, Shefali, Thorsteinsdottir, Unnur, Verma, Anurag, Zawistowski, Matthew, Afifi, Nahla, Al-Dabhani, Kawthar M., Campbell, Archie, Crooks, Kristy, Fritsche, Lars G., Fthenou, Eleni, Guo, Yu, Hunt, Karen A., Ioannidis, Alexander, Jansonius, Nomdo M., Konuma, Takahiro, Lee, Ming Ta Michael, Lopez-Pineda, Arturo, Matsuda, Yuta, Marioni, Riccardo E., Numakura, Kensuke, Patil, Snehal, Richmond, Anne, Rojas-Muñoz, Agustin, Shortt, Jonathan A., Tao, Ran, Vanderwerff, Brett, Vernekar, Manvi, Veturi, Yogasudha, Barnes, Kathleen C., Chen, Zhengming, Smith, George Davey, Finucane, Hilary K., Gamazon, Eric R., Gaunt, Tom R., Ge, Tian, Katsanis, Nicholas, Koskela, Jukka T., Law, Matthew H., Li, Liming, Loos, Ruth J.F., Matsuda, Koichi, Olsen, Catherine M., Shavit, Jordan A., Snieder, Harold, Takano, Tomohiro, Vonk, Judith M., Wicks, Stephen J., Wijmenga, Cisca, Wright, John, Zhou, Xiang, Awadalla, Philip, Boehnke, Michael, Bustamante, Carlos D., Fatumo, Segun, Hayward, Caroline, Hveem, Kristian, Kenny, Eimear E., Lee, Seunggeun, Mbarek, Hamdi, Mägi, Reedik, Martin, Hilary C., Medland, Sarah E., Palotie, Aarno V., Pasaniuc, Bogdan, Rader, Daniel J., Ritchie, Marylyn D., Smoller, Jordan W., Stefansson, Kari, Martin, Alicia R.

“…Biobanks facilitate genome-wide association studies (GWASs), which have mapped genomic loci across a range of human diseases and traits. However, most biobanks…”
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Familial 18q12.2 deletion supports the role of RNA‐binding protein CELF4 in autism spectrum disorders by Barone, Rita, Fichera, Marco, De Grandi, Mariaclara, Battaglia, Marta, Lo Faro, Valeria, Mattina, Teresa, Rizzo, Renata

“…Deletion of 18q12.2 is an increasingly recognized condition with a distinct neuropsychiatric phenotype. Twenty‐two patients have been described with…”
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Meta-analysis fine-mapping is often miscalibrated at single-variant resolution by Zhou, Wei, Zhou, Wei, Wu, Kuan-Han H., Hirbo, Jibril B., Lopera-Maya, Esteban A., Läll, Kristi, Karjalainen, Juha, Kurki, Mitja, Maasha, Mutaamba, Brumpton, Ben M., Chavan, Sameer, Chen, Tzu-Ting, Ding, Yi, Guare, Lindsay A., Hornsby, Whitney E., Ingold, Nathan, Johnson, Ruth, Laisk, Triin, Lv, Jun, Millwood, Iona Y., Palta, Priit, Uzunovic, Jasmina, Verma, Anurag, Zawistowski, Matthew, Zhong, Xue, Al-Dabhani, Kawthar M., Campbell, Archie, Damrauer, Scott M., Douville, Nicholas J., Finer, Sarah, Fritsche, Lars G., Fthenou, Eleni, Gonzalez-Arroyo, Gilberto, Hunt, Karen A., Ioannidis, Alexander, Jansonius, Nomdo M., Michael Lee, Ming Ta, Lopez-Pineda, Arturo, Marioni, Riccardo E., Moatamed, Babak, Numakura, Kensuke, Rafaels, Nicholas, Richmond, Anne, Rojas-Muñoz, Agustin, Straub, Peter, Vanderwerff, Brett, Vernekar, Manvi, Barnes, Kathleen C., Boezen, Marike, Chen, Zhengming, Chen, Chia-Yen, Cho, Judy, Finucane, Hilary K., Franke, Lude, Ganna, Andrea, Gaunt, Tom R., Huang, Hailiang, Koskela, Jukka T., Lajonchere, Clara, Loos, Ruth J.F., MacGregor, Stuart, Matsuda, Koichi, Olsen, Catherine M., Porteous, David J., Shavit, Jordan A., Takano, Tomohiro, Vonk, Judith M., Whiteman, David C., Wright, John, Boehnke, Michael, Bustamante, Carlos D., Cox, Nancy J., Fatumo, Segun, Geschwind, Daniel H., Hayward, Caroline, Mägi, Reedik, Martin, Hilary C., Medland, Sarah E., Okada, Yukinori, Palotie, Aarno V., Pasaniuc, Bogdan, Sanna, Serena, Stefansson, Kari, Zöllner, Sebastian, BioMe, BioVU, CanPath - Ontario Health Study, China Kadoorie Biobank Collaborative Group, Colorado Center for Personalized Medicine, deCODE Genetics, Estonian Biobank, FinnGen, Generation Scotland, National Biobank of Korea, Taiwan Biobank, The Hunt Study, Ucla Atlas Community Health Initiative, Uganda Genome Resource, Uk Biobank, Martin, Alicia R., Daly, Mark J.

“…Meta-analysis is pervasively used to combine multiple genome-wide association studies (GWASs). Fine-mapping of meta-analysis studies is typically performed as…”
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Global Biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts by Wang, Ying, Namba, Shinichi, Lopera, Esteban, Kerminen, Sini, Kanai, Masahiro, Zhou, Wei, Bhatta, Laxmi, Awadalla, Philip, Hveem, Kristian, Lo Faro, Valeria, Mägi, Reedik, Sanna, Serena, Smoller, Jordan W., Uzunovic, Jasmina, Zhou, Wei, Kanai, Masahiro, Rasheed, Humaira, Tsuo, Kristin, Hirbo, Jibril B., Bhattacharya, Arjun, Zhao, Huiling, Namba, Shinichi, Surakka, Ida, Wolford, Brooke N., Lo Faro, Valeria, Läll, Kristi, Favé, Marie-Julie, Chapman, Sinéad B., Karjalainen, Juha, Kurki, Mitja, Mutaamba, Maasha, Partanen, Juulia J., Chavan, Sameer, Chen, Tzu-Ting, Daya, Michelle, Ding, Yi, Graham, Sarah E., Ingold, Nathan, Johnson, Ruth, Laisk, Triin, Lin, Kuang, Lv, Jun, Millwood, Iona Y., Pandit, Anita, Preuss, Michael H., Thorsteinsdottir, Unnur, Uzunovic, Jasmina, Zawistowski, Matthew, Zhong, Xue, Campbell, Archie, Douville, Nicholas J., Finer, Sarah, Griffiths, Christopher J., Marioni, Riccardo E., Nomdo, Jansonius, Patil, Snehal, Richmond, Anne, Straub, Peter, Vanderwerff, Brett, Barnes, Kathleen C., Chen, Zhengming, Chen, Chia-Yen, Smith, George Davey, Finucane, Hilary K., Franke, Lude, Gamazon, Eric R., Ganna, Andrea, Gaunt, Tom R., Ge, Tian, Huffman, Jennifer, MacGregor, Stuart, Matsuda, Koichi, Olsen, Catherine M., Porteous, David J., Shavit, Jordan A., Trembath, Richard C., Vonk, Judith M., Whiteman, David, Wicks, Stephen J., Wijmenga, Cisca, Wright, John, Zhou, Xiang, Cox, Nancy J., Geschwind, Daniel H., Hayward, Caroline, Hveem, Kristian, Kenny, Eimear E., Lin, Yen-Feng, Mägi, Reedik, Martin, Hilary C., Walters, Robin G., Zöllner, Sebastian, Martin, Alicia R., Willer, Cristen J., Daly, Mark J., Neale, Benjamin M., Surakka, Ida, Okada, Yukinori, Martin, Alicia R., Hirbo, Jibril

“…Polygenic risk scores (PRSs) have been widely explored in precision medicine. However, few studies have thoroughly investigated their best practices in global…”
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Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation by Lo Faro, Valeria, Bhattacharya, Arjun, Zhou, Wei, Zhou, Dan, Wang, Ying, Läll, Kristi, Kanai, Masahiro, Lopera-Maya, Esteban, Straub, Peter, Pawar, Priyanka, Tao, Ran, Zhong, Xue, Namba, Shinichi, Sanna, Serena, Nolte, Ilja M., Okada, Yukinori, Ingold, Nathan, MacGregor, Stuart, Snieder, Harold, Surakka, Ida, Shortt, Jonathan, Gignoux, Chris, Rafaels, Nicholas, Crooks, Kristy, Verma, Anurag, Verma, Shefali S., Guare, Lindsay, Rader, Daniel J., Willer, Cristen, Martin, Alicia R., Brantley, Milam A., Gamazon, Eric R., Jansonius, Nomdo M., Joos, Karen, Cox, Nancy J., Hirbo, Jibril

“…Primary open-angle glaucoma (POAG), a leading cause of irreversible blindness globally, shows disparity in prevalence and manifestations across ancestries. We…”
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