المؤلفون: Maya Chopra, Dustin L. Gable, Jamie Love‐Nichols, Alexa Tsao, Shira Rockowitz, Piotr Sliz, Elizabeth Barkoudah, Lucia Bastianelli, David Coulter, Emily Davidson, Claudio DeGusmao, David Fogelman, Kathleen Huth, Paige Marshall, Donna Nimec, Jessica Solomon Sanders, Benjamin J. Shore, Brian Snyder, Scellig S. D. Stone, Ana Ubeda, Colyn Watkins, Charles Berde, Jeffrey Bolton, Catherine Brownstein, Michael Costigan, Darius Ebrahimi‐Fakhari, Abbe Lai, Anne O'Donnell‐Luria, Alex R. Paciorkowski, Anna Pinto, John Pugh, Lance Rodan, Eugene Roe, Lindsay Swanson, Bo Zhang, Michael C. Kruer, Mustafa Sahin, Annapurna Poduri, Siddharth Srivastava

المصدر: Annals of clinical and translational neurology. 9(2)

مصطلحات موضوعية: Cohort Studies, Male, Adolescent, General Neuroscience, Cerebral Palsy, Child, Preschool, Exome Sequencing, Humans, Female, Genetic Predisposition to Disease, Neurology (clinical), Child

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36d693dc0df3bfd8751dd36e957feac1Test
https://pubmed.ncbi.nlm.nih.gov/35076175Test

المؤلفون: Julia K. Goodrich, Moriel Singer-Berk, Rachel Son, Abigail Sveden, Jordan Wood, Eleina England, Joanne B. Cole, Ben Weisburd, Nick Watts, Lizz Caulkins, Peter Dornbos, Ryan Koesterer, Zachary Zappala, Haichen Zhang, Kristin A. Maloney, Andy Dahl, Carlos A. Aguilar-Salinas, Gil Atzmon, Francisco Barajas-Olmos, Nir Barzilai, John Blangero, Eric Boerwinkle, Lori L. Bonnycastle, Erwin Bottinger, Donald W. Bowden, Federico Centeno-Cruz, John C. Chambers, Nathalie Chami, Edmund Chan, Juliana Chan, Ching-Yu Cheng, Yoon Shin Cho, Cecilia Contreras-Cubas, Emilio Córdova, Adolfo Correa, Ralph A. DeFronzo, Ravindranath Duggirala, Josée Dupuis, Ma Eugenia Garay-Sevilla, Humberto García-Ortiz, Christian Gieger, Benjamin Glaser, Clicerio González-Villalpando, Ma Elena Gonzalez, Niels Grarup, Leif Groop, Myron Gross, Christopher Haiman, Sohee Han, Craig L. Hanis, Torben Hansen, Nancy L. Heard-Costa, Brian E. Henderson, Juan Manuel Malacara Hernandez, Mi Yeong Hwang, Sergio Islas-Andrade, Marit E. Jørgensen, Hyun Min Kang, Bong-Jo Kim, Young Jin Kim, Heikki A. Koistinen, Jaspal Singh Kooner, Johanna Kuusisto, Soo-Heon Kwak, Markku Laakso, Leslie Lange, Jong-Young Lee, Juyoung Lee, Donna M. Lehman, Allan Linneberg, Jianjun Liu, Ruth J. F. Loos, Valeriya Lyssenko, Ronald C. W. Ma, Angélica Martínez-Hernández, James B. Meigs, Thomas Meitinger, Elvia Mendoza-Caamal, Karen L. Mohlke, Andrew D. Morris, Alanna C. Morrison, Maggie C. Y. Ng, Peter M. Nilsson, Christopher J. O’Donnell, Lorena Orozco, Colin N. A. Palmer, Kyong Soo Park, Wendy S. Post, Oluf Pedersen, Michael Preuss, Bruce M. Psaty, Alexander P. Reiner, Cristina Revilla-Monsalve, Stephen S. Rich, Jerome I. Rotter, Danish Saleheen, Claudia Schurmann, Xueling Sim, Rob Sladek, Kerrin S. Small, Wing Yee So, Timothy D. Spector, Konstantin Strauch, Tim M. Strom, E. Shyong Tai, Claudia H. T. Tam, Yik Ying Teo, Farook Thameem, Brian Tomlinson, Russell P. Tracy, Tiinamaija Tuomi, Jaakko Tuomilehto, Teresa Tusié-Luna, Rob M. van Dam, Ramachandran S. Vasan, James G. Wilson, Daniel R. Witte, Tien-Yin Wong, AMP-T2D-GENES Consortia, Noël P. Burtt, Noah Zaitlen, Mark I. McCarthy, Michael Boehnke, Toni I. Pollin, Jason Flannick, Josep M. Mercader, Anne O’Donnell-Luria, Samantha Baxter, Jose C. Florez, Daniel G. MacArthur, Miriam S. Udler

المساهمون: Institute for Molecular Medicine Finland, Clinicum, Centre of Excellence in Complex Disease Genetics, Leif Groop Research Group, HUS Abdominal Center, University of Helsinki, Department of Medicine, Tiinamaija Tuomi Research Group, Department of Public Health, NIH - National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) (Estados Unidos), NIH - National Institute of Child Health and Human Development (NICHD) (Estados Unidos), American Diabetes Association

المصدر: Nature Communications
Goodrich, J K, Singer-Berk, M, Son, R, Sveden, A, Wood, J, England, E, Cole, J B, Weisburd, B, Watts, N, Caulkins, L, Dornbos, P, Koesterer, R, Zappala, Z, Zhang, H, Maloney, K A, Dahl, A, Aguilar-Salinas, C A, Atzmon, G, Barajas-Olmos, F, Barzilai, N, Blangero, J, Boerwinkle, E, Bonnycastle, L L, Bottinger, E, Bowden, D W, Centeno-Cruz, F, Chambers, J C, Chami, N, Chan, E, Chan, J, Cheng, C Y, Cho, Y S, Contreras-Cubas, C, Córdova, E, Correa, A, DeFronzo, R A, Duggirala, R, Dupuis, J, Garay-Sevilla, M E, García-Ortiz, H, Gieger, C, Glaser, B, González-Villalpando, C, Gonzalez, M E, Grarup, N, Groop, L, Gross, M, Hansen, T, Linneberg, A, Pedersen, O & AMP-T2D-GENES Consortia 2021, ' Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes ', Nature Communications, vol. 12, 3505 . https://doi.org/10.1038/s41467-021-23556-4Test
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Repisalud
Instituto de Salud Carlos III (ISCIII)
Goodrich, J K, Singer-Berk, M, Son, R, Sveden, A, Wood, J, England, E, Cole, J B, Weisburd, B, Watts, N, Caulkins, L, Dornbos, P, Koesterer, R, Zappala, Z, Zhang, H, Maloney, K A, Dahl, A, Aguilar-Salinas, C A, Atzmon, G, Barajas-Olmos, F, Barzilai, N, Blangero, J, Boerwinkle, E, Bonnycastle, L L, Bottinger, E, Bowden, D W, Centeno-Cruz, F, Chambers, J C, Chami, N, Chan, E, Chan, J, Cheng, C Y, Cho, Y S, Contreras-Cubas, C, Córdova, E, Correa, A, DeFronzo, R A, Duggirala, R, Dupuis, J, Garay-Sevilla, M E, García-Ortiz, H, Gieger, C, Glaser, B, González-Villalpando, C, Gonzalez, M E, Grarup, N, Groop, L, Gross, M, Haiman, C A, Han, S, Hanis, C L, Hansen, T, Heard-Costa, N L, Jørgensen, M E, Pedersen, O, Witte, D R & AMP-T2D-GENES Consortia 2021, ' Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes ', Nature Communications, vol. 12, 3505 . https://doi.org/10.1038/s41467-021-23556-4Test
AMP-T2D-GENES Consortia 2021, ' Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes ', Nature Communications, vol. 12, no. 1, 3505 . https://doi.org/10.1038/s41467-021-23556-4Test

مصطلحات موضوعية: 0301 basic medicine, Multifactorial Inheritance, LD SCORE REGRESSION, General Physics and Astronomy, MEDICAL GENETICS, Penetrance, Disease, DISEASE, 0302 clinical medicine, Genotype, Exome, Exome sequencing, Genetics, RISK, Multidisciplinary, Molecular medicine, Endocrine system and metabolic diseases, ASSOCIATION, RARE VARIANTS, LOW-FREQUENCY, Medical genomics, Adult, Science, Biology, AMERICAN-COLLEGE, Risk Assessment, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, Diabetes mellitus, medicine, Humans, Genetic Predisposition to Disease, CLINICAL EXOME, Monogenic Diabetes, Dyslipidemias, MUTATIONS, Genetic variants, General Chemistry, medicine.disease, Biomarker (cell), 030104 developmental biology, Biological Variation, Population, Diabetes Mellitus, Type 2, 3121 General medicine, internal medicine and other clinical medicine, 030217 neurology & neurosurgery, Biomarkers

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb45722a2bf7d68da17f9e595c88127cTest
http://europepmc.org/articles/PMC8190084Test