Suchergebnisse - "Reigo, Anu"

Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants von Leitsalu, Liis, Palover, Marili, Sikka, Timo Tõnis, Reigo, Anu, Kals, Mart, Pärn, Kalle, Nikopensius, Tiit, Esko, Tõnu, Metspalu, Andres, Padrik, Peeter, Tõnisson, Neeme

“… Genotype-first approach allows to systematically identify carriers of pathogenic variants in BRCA1/2 genes conferring a high risk of familial breast and …”
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Copy number variations and cognitive phenotypes in unselected populations von Männik, Katrin, Mägi, Reedik, Macé, Aurélien, Cole, Ben, Guyatt, Anna L, Shihab, Hashem A, Maillard, Anne M, Alavere, Helene, Kolk, Anneli, Reigo, Anu, Mihailov, Evelin, Leitsalu, Liis, Ferreira, Anne-Maud, Nõukas, Margit, Teumer, Alexander, Salvi, Erika, Cusi, Daniele, McGue, Matt, Iacono, William G, Gaunt, Tom R, Beckmann, Jacques S, Jacquemont, Sébastien, Kutalik, Zoltán, Pankratz, Nathan, Timpson, Nicholas, Metspalu, Andres, Reymond, Alexandre

“… The association of copy number variations (CNVs), differing numbers of copies of genetic sequence at locations in the genome, with phenotypes such as …”
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Comorbidities confound metabolomics studies of human disease von Jaagura, Madis, Kronberg, Jaanika, Reigo, Anu, Aasmets, Oliver, Nikopensius, Tiit, Võsa, Urmo, Bomba, Lorenzo, Estrada, Karol, Wuster, Arthur, Esko, Tõnu, Org, Elin

“… The co-occurrence of multiple chronic conditions, termed multimorbidity, presents an expanding global health challenge, demanding effective diagnostics and …”
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Pathway level metabolomics analysis identifies carbon metabolism as a key factor of incident hypertension in the Estonian Biobank von Hiie, Liis, Kolde, Anastassia, Pervjakova, Natalia, Reigo, Anu, Abner, Erik, Võsa, Urmo, Esko, Tõnu, Fischer, Krista, Palta, Priit, Kronberg, Jaanika

“… The purpose of this study was to find metabolic changes associated with incident hypertension in the volunteer-based Estonian Biobank. We used a subcohort of …”
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Genome-wide association study of pulpal and apical diseases von Salminen, Aino, Hyvärinen, Kati, Ritari, Jarmo, Leppilahti, Jussi M., Palotie, Ulla, Vuollo, Ville, Kambur, Oleg, Reis, Kadri, Reigo, Anu, Palta, Priit, Perola, Markus, Sinisalo, Juha, Havulinna, Aki S., Mäntylä, Päivi, Gürsoy, Ulvi Kahraman, Suominen, A. Liisa, Rice, David P., Anttonen, Vuokko, Nieminen, Pekka, Pussinen, Pirkko J.

“… Infections of the dental pulp are common sequelae of microbial activity and host susceptibility, affecting >80% of adult population. We performed a genome-wide …”
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The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition von Hippolyte, Loyse, Maillard, Anne M., Rodriguez-Herreros, Borja, Pain, Aurélie, Martin-Brevet, Sandra, Ferrari, Carina, Conus, Philippe, Macé, Aurélien, Hadjikhani, Nouchine, Metspalu, Andres, Reigo, Anu, Kolk, Anneli, Männik, Katrin, Barker, Mandy, Isidor, Bertrand, Le Caignec, Cédric, Mignot, Cyril, Schneider, Laurence, Mottron, Laurent, Keren, Boris, David, Albert, Doco-Fenzy, Martine, Gérard, Marion, Bernier, Raphael, Goin-Kochel, Robin P., Hanson, Ellen, Green Snyder, LeeAnne, Ramus, Franck, Beckmann, Jacques S., Draganski, Bogdan, Reymond, Alexandre, Jacquemont, Sébastien

“… Deletions and duplications of the 16p11.2 BP4-BP5 locus are prevalent copy number variations (CNVs), highly associated with autism spectrum disorder and …”
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Common clinical blood and urine biomarkers for ischemic stroke: an Estonian Electronic Health Records database study von Kurvits, Siim, Harro, Ainika, Reigo, Anu, Ott, Anne, Laur, Sven, Särg, Dage, Tampuu, Ardi, Alasoo, Kaur, Vilo, Jaak, Milani, Lili, Haller, Toomas

“… Background Ischemic stroke (IS) is a major health risk without generally usable effective measures of primary prevention. Early warning signals that are easy …”
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Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia von Nurm, Miriam, Reigo, Anu, Nõukas, Margit, Leitsalu, Liis, Nikopensius, Tiit, Palover, Marili, Annilo, Tarmo, Alver, Maris, Saar, Aet, Marandi, Toomas, Ainla, Tiia, Metspalu, Andres, Esko, Tõnu, Tõnisson, Neeme

“… Recall-by-genotype (RbG) studies conducted with population-based biobank data remain urgently needed, and follow-up RbG studies, which add substance to this …”
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Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting von Jürgens, Hannes, Roht, Laura, Leitsalu, Liis, Nõukas, Margit, Palover, Marili, Nikopensius, Tiit, Reigo, Anu, Kals, Mart, Kallak, Kersti, Kütner, Riina, Budrikas, Kai, Kuusk, Saskia, Valvere, Vahur, Laidre, Piret, Toome, Kadri, Rekker, Kadri, Tooming, Mikk, Ülle Murumets, Kahre, Tiina, Kruuv-Käo, Krista, Õunap, Katrin, Padrik, Peeter, Metspalu, Andres, Esko, Tõnu, Fischer, Krista, Tõnisson, Neeme

“… Although hereditary breast cancer screening and management are well accepted and established in clinical settings, these efforts result in the detection of …”
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Genome-wide meta-analysis identifies novel loci conferring risk of acne vulgaris von Teder-Laving, Maris, Kals, Mart, Reigo, Anu, Ehin, Riin, Objärtel, Telver, Vaht, Mariliis, Nikopensius, Tiit, Metspalu, Andres, Kingo, Külli

“… Acne vulgaris is a common chronic skin disorder presenting with comedones, cystic structures forming within the distal hair follicle, and in most cases …”
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Correction: Genome-wide meta-analysis identifies novel loci conferring risk of acne vulgaris von Teder-Laving, Maris, Kals, Mart, Reigo, Anu, Ehin, Riin, Objärtel, Telver, Vaht, Mariliis, Nikopensius, Tiit, Metspalu, Andres, Kingo, Külli

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Distinct and shared genetic architectures of gestational diabetes mellitus and type 2 diabetes von Elliott, Amanda, Walters, Raymond K., Pirinen, Matti, Kurki, Mitja, Junna, Nella, Goldstein, Jacqueline I., Reeve, Mary Pat, Siirtola, Harri, Lemmelä, Susanna M., Turley, Patrick, Lahtela, Elisa, Mehtonen, Juha, Reis, Kadri, Elnahas, Abdelrahman G., Reigo, Anu, Palta, Priit, Esko, Tõnu, Mägi, Reedik, Palotie, Aarno, Daly, Mark J., Widén, Elisabeth

“… Gestational diabetes mellitus (GDM) is a common metabolic disorder affecting more than 16 million pregnancies annually worldwide 1 , 2 . GDM is related to an …”
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Genetic Study of Psoriasis Highlights its Close Link with Socioeconomic Status and Affective Symptoms von Heikkilä, Anni, Sliz, Eeva, Huilaja, Laura, Reis, Kadri, Palta, Priit, Elnahas, Abdelrahman G, Reigo, Anu, Esko, Tõnu, Laisk, Triin, Teder-Laving, Maris, Tasanen, Kaisa, Kettunen, Johannes

“… Psoriasis is an inflammatory skin disease with an estimated heritability of around 70%. Previous GWASs have detected several risk loci for psoriasis. To …”
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Genome‐wide association study of anterior uveitis von Koskimäki, Fredrika, Ahokas, Oona, Elnahas, Abdelrahman, Reigo, Anu, Reis, Kadri, Esko, Tõnu, Palta, Priit, Leinonen, Sanna, Kettunen, Johannes, Liinamaa, Johanna, Karjalainen, Minna, Saarela, Ville

“… Aims/Purpose: The purpose of this study was to identify new genetic associations of anterior uveitis through genome‐wide association study (GWAS). Methods: We …”
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12. CHARACTERIZING SEVERITY-BASED DEPRESSION SUBTYPES USING ELECTRONIC HEALTH RECORDS AND MACHINE LEARNING IN THE ESTONIAN BIOBANK von Kurvits, Siim, Kariis, Hanna, Võsa, Urmo, Haan, Elis, Sedman, Tuuli, Reigo, Anu, Milani, Lili, Haller, Toomas, Lehto, Kelli

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A scoping review of the assessment reports of genetic or genomic tests reveals inconsistent consideration of key dimensions of clinical utility von Pezzullo, Angelo Maria, Valz Gris, Angelica, Scarsi, Nicolò, Tona, Diego Maria, Porcelli, Martina, Di Pumpo, Matteo, Piko, Peter, Adany, Roza, Kannan, Pragathy, Perola, Markus, Cardoso, Maria Luis, Costa, Alexandra, Vicente, Astrid M., Reigo, Anu, Vaht, Mariliis, Metspalu, Andres, Kroese, Mark, Pastorino, Roberta, Boccia, Stefania

“… Genetic and genomic tests are the cornerstone of personalized preventive approaches. Inconsistency in evaluating their clinical utility is often cited as a …”
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Use of Estonian Biobank data and participant recall to improve Wilson's disease management von Nurm, Miriam, Reigo, Anu, Annilo, Tarmo, Toomsoo, Toomas, Nõukas, Margit, Nikopensius, Tiit, Pankratov, Vasili, Reisberg, Tuuli, Hudjashov, Georgi, Haller, Toomas, Tõnisson, Neeme

“… Population-based biobanks enable genomic screening to support initiatives that prevent disease onset or slow its progression and to estimate the prevalence of …”
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Genome‐wide association study of anterior uveitis von Koskimäki, Fredrika, Ahokas, Oona, Consortium, FinnGen, Team, Estonian Biobank Research, Elnahas, Abdelrahman, Reigo, Anu, Reis, Kadri, Esko, Tõnu, Palta, Priit, Leinonen, Sanna, Kettunen, Johannes, Liinamaa, Johanna, Karjalainen, Minna, Saarela, Ville

“… Aims/Purpose: The purpose of this study was to identify new genetic associations of anterior uveitis through genome‐wide association study (GWAS). Methods: We …”
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The Estonian Biobank’s journey from biobanking to personalized medicine von Milani, Lili, Alver, Maris, Laur, Sven, Reisberg, Sulev, Haller, Toomas, Aasmets, Oliver, Abner, Erik, Alavere, Helene, Allik, Annely, Annilo, Tarmo, Fischer, Krista, Hofmeister, Robin, Hudjashov, Georgi, Jõeloo, Maarja, Kals, Mart, Karo-Astover, Liis, Kasela, Silva, Kolde, Anastassia, Krebs, Kristi, Krigul, Kertu Liis, Kronberg, Jaanika, Kruusmaa, Karoliina, Kukuškina, Viktorija, Kõiv, Kadri, Lehto, Kelli, Leitsalu, Liis, Lind, Sirje, Luitva, Laura Birgit, Läll, Kristi, Lüll, Kreete, Metsalu, Kristjan, Metspalu, Mait, Mõttus, René, Nelis, Mari, Nikopensius, Tiit, Nurm, Miriam, Nõukas, Margit, Oja, Marek, Org, Elin, Palover, Marili, Palta, Priit, Pankratov, Vasili, Pantiukh, Kateryna, Pervjakova, Natalia, Pujol-Gualdo, Natàlia, Reigo, Anu, Reimann, Ene, Smit, Steven, Rogozina, Diana, Särg, Dage, Taba, Nele, Talvik, Harry-Anton, Teder-Laving, Maris, Tõnisson, Neeme, Vaht, Mariliis, Vainik, Uku, Võsa, Urmo, Yelmen, Burak, Esko, Tõnu, Kolde, Raivo, Mägi, Reedik, Vilo, Jaak, Laisk, Triin, Metspalu, Andres

“… Large biobanks have set a new standard for research and innovation in human genomics and implementation of personalized medicine. The Estonian Biobank was …”
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Lessons learned during the process of reporting individual genomic results to participants of a population-based biobank von Leitsalu, Liis, Reigo, Anu, Palover, Marili, Nikopensius, Tiit, Läll, Kristi, Krebs, Kristi, Reisberg, Sulev, Mägi, Reedik, Kals, Mart, Alavere, Helene, Nõukas, Margit, Kolk, Anneli, Normet, Ivi, Tammesoo, Mari-Liis, Käärik, Ene, Puusepp, Mairo, Metsalu, Kristjan, Allik, Annely, Milani, Lili, Fischer, Krista, Tõnisson, Neeme, Metspalu, Andres

“… The return of individual genomic results (ROR) to research participants is still in its early phase, and insight on how individuals respond to ROR is scarce …”
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