Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Christian Benner"'
Autor:
Kavita Praveen, Lee Dobbyn, Lauren Gurski, Ariane H. Ayer, Jeffrey Staples, Shawn Mishra, Yu Bai, Alexandra Kaufman, Arden Moscati, Christian Benner, Esteban Chen, Siying Chen, Alexander Popov, Janell Smith, GHS-REGN DiscovEHR collaboration, Regeneron Genetics Center, Decibel-REGN collaboration, Olle Melander, Marcus B. Jones, Jonathan Marchini, Suganthi Balasubramanian, Brian Zambrowicz, Meghan C. Drummond, Aris Baras, Goncalo R. Abecasis, Manuel A. Ferreira, Eli A. Stahl, Giovanni Coppola
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-12 (2022)
A GWAS and exome-wide association study meta-analysis identifies 53 loci affecting hearing loss risk from over half a million individuals across five cohorts. Rare variants in Mendelian hearing loss genes contribute to hearing loss risk in adults.
Externí odkaz:
https://doaj.org/article/c155a1e114c54095aa702bbcf6d62816
Autor:
Susanna Lemmelä, Eleanor M Wigmore, Christian Benner, Aki S Havulinna, Rachel MY Ong, Tibor Kempf, Kai C Wollert, Stefan Blankenberg, Tanja Zeller, James E Peters, Veikko Salomaa, Maria Fritsch, Ruth March, Aarno Palotie, Mark Daly, Adam S Butterworth, Mervi Kinnunen, Dirk S Paul, Athena Matakidou
Publikováno v:
eLife, Vol 11 (2022)
Growth differentiation factor-15 (GDF15) is a stress response cytokine that is elevated in several cardiometabolic diseases and has attracted interest as a potential therapeutic target. To further explore the association of GDF15 with human disease,
Externí odkaz:
https://doaj.org/article/947c9e05c4c4431bb9e58e17bc7039ee
Publikováno v:
Cancer Informatics, Vol 2014, Iss 13, Pp 153-156 (2014)
Externí odkaz:
https://doaj.org/article/93ab174048944421924eb5f440ecb464
Autor:
Susanna Lemmelä, Svetlana Solovieva, Rahman Shiri, Christian Benner, Markku Heliövaara, Johannes Kettunen, Verneri Anttila, Samuli Ripatti, Markus Perola, Ilkka Seppälä, Markus Juonala, Mika Kähönen, Veikko Salomaa, Jorma Viikari, Olli T Raitakari, Terho Lehtimäki, Aarno Palotie, Eira Viikari-Juntura, Kirsti Husgafvel-Pursiainen
Publikováno v:
PLoS ONE, Vol 11, Iss 10, p e0163877 (2016)
Sciatica or the sciatic syndrome is a common and often disabling low back disorder in the working-age population. It has a relatively high heritability but poorly understood molecular mechanisms. The Finnish population is a genetic isolate where smal
Externí odkaz:
https://doaj.org/article/12f187892c2443bf8e8dc24dcd7d6f41
Autor:
Ingrida Šaulienė, Jūratė Greičiuvienė, Laura Šukienė, Neringa Juškevičiūtė, Christian Benner, Auksė Zinkevičienė, Samuli Ripatti, Kati Donner, Denis Kainov
Publikováno v:
PLoS ONE, Vol 10, Iss 7, p e0134188 (2015)
Allergic rhinitis (AR) is a common and complex disease. It is associated with environmental as well as genetic factors. Three recent genome-wide association studies (GWAS) reported altogether 47 single nucleotide polymorphisms (SNPs) associated with
Externí odkaz:
https://doaj.org/article/457a0b0b4b8f410cb5d99f85176b624f
Autor:
Jason Flannick, Noël P. Burtt, John F. Morris, Nicholas A. Vulpescu, Siyuan Chen, Meganq Hogan, Christian Benner, Brent Richards, Lai Jiang, Quy Hoang, Matthew T. Maurano, Mark I. McCarthy, Vincenzo Forgetta, Dongkeun Jang, Eric B. Fauman, Stepan Grinek, Celia M. T. Greenwood
Publikováno v:
Human Genetics. 141:1431-1447
Drug development and biological discovery require effective strategies to map existing genetic associations to causal genes. To approach this problem, we selected 12 common diseases and quantitative traits for which highly powered genome-wide associa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cdb936e30beeba5f1beb195d6ff82f2
https://doi.org/10.1007/s00439-022-02434-z
https://doi.org/10.1007/s00439-022-02434-z
Autor:
Eleanor M Wigmore, Susanna Lemmelä, Christian Benner, Aki S Havulinna, Rachel MY Ong, Tibor Kempf, Kai C Wollert, Stefan Blankenberg, Tanja Zeller, James E Peters, Veikko Salomaa, Maria Fritsch, Ruth March, Aarno Palotie, Mark Daly, Adam S Butterworth, Mervi Kinnunen, Dirk S Paul, Athena Matakidou
Funder: Wellcome Trust
Funder: Sydäntutkimussäätiö
Growth differentiation factor-15 (GDF15) is a stress response cytokine that is elevated in several cardiometabolic diseases and has attracted interest as a potential therapeutic target.
Funder: Sydäntutkimussäätiö
Growth differentiation factor-15 (GDF15) is a stress response cytokine that is elevated in several cardiometabolic diseases and has attracted interest as a potential therapeutic target.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a06e2a016fe6d39c7d828ffdbb70962a
Autor:
Eleanor M Wigmore, Susanna Lemmelä, Christian Benner, Aki S Havulinna, Rachel MY Ong, Tibor Kempf, Kai C Wollert, Stefan Blankenberg, Tanja Zeller, James E Peters, Veikko Salomaa, Maria Fritsch, Ruth March, Aarno Palotie, Mark Daly, Adam S Butterworth, Mervi Kinnunen, Dirk S Paul, Athena Matakidou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3c2e5d430eade34e9fcbf4f6cf9ed04f
https://doi.org/10.7554/elife.76272.sa2
https://doi.org/10.7554/elife.76272.sa2
Autor:
Lukas Habegger, Joshua D. Backman, Gonçalo R. Abecasis, Jack A. Kosmicki, Leland Barnard, Jeffrey S. Reid, Boris Boutkov, Andrey Ziyatdinov, Jonathan Marchini, Christian Benner, Evan Maxwell, Anthony Marcketta, Manuel A. R. Ferreira, Joelle Mbatchou, Aris Baras, Mathew Barber, Colm O'Dushlaine
Publikováno v:
Nature Genetics. 53:1097-1103
Genome-wide association analysis of cohorts with thousands of phenotypes is computationally expensive, particularly when accounting for sample relatedness or population structure. Here we present a novel machine-learning method called REGENIE for fit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::203a8303d00e057d517ab7516becf642
https://doi.org/10.1038/s41588-021-00870-7
https://doi.org/10.1038/s41588-021-00870-7
Autor:
Jack A. Kosmicki, Charles Paulding, Nan Lin, Andrew J. Murphy, Jerome I. Rotter, Brian Zambrowicz, Niek Verweij, Luca A. Lotta, Michal L. Schwartzman, Giusy Della Gatta, Yii-Der Ida Chen, Alexander H. Li, Suganthi Balasubramanian, Jason M. Torres, Hyun Min Kang, Rory Collins, Parsa Akbari, Michael E. Dunn, Gonçalo R. Abecasis, Christian Benner, David J. Carey, Svati H. Shah, Jonathan Marchini, Giovanni Coppola, Marcus B. Jones, Olle Melander, Christopher D. Still, Yi-Ya Fang, Olukayode A. Sosina, Manuel A. R. Ferreira, Roberto Tapia-Conyer, Michael Cantor, Aris N. Economides, Dylan Sun, Adam E. Locke, Jonathan V. Pascale, Daniel J. Rader, Ankit Gilani, Joelle Mbatchou, Jesus Alegre-Díaz, Mark W. Sleeman, Trikaldarshi Persaud, Jeffrey G. Reid, Pablo Kuri-Morales, Jaime Berumen-Campos, John D. Overton, Aris Baras, Ercument Dirice, Sakib Hossain, Alicia Hawes, George D. Yancopoulos, Jonathan Emberson, Victor Garcia, Judith Altarejos, Lori Khrimian, Katia Karalis, William E. Kraus, Tooraj Mirshahi, Kevin Agostinucci, Alan R. Shuldiner
Publikováno v:
Science
Introduction Obesity accounts for a substantial and growing burden of disease globally. Body adiposity is highly heritable, and human genetic studies can lead to biological and therapeutic insights. Rationale Whole-exome sequencing of hundreds of tho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df724bff85dd4d7320fb650eae3fa2a5
https://doi.org/10.1126/science.abf8683
https://doi.org/10.1126/science.abf8683