Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Maja Bucan"'
Autor:
Ji-eun Yoon, Arjun Krishnan, Marie Vincent, Marco Fichera, Claire Beneteau, Erik A. Sistermans, Nathalie Marle, Luana Mandarà, Sau Wai Cheung, R. Frank Kooy, Teresa Mattina, Rachel L. Kember, Mathilde Nizon, Jill A. Rosenfeld, Alexandre Reymond, Bertrand Isidor, Sophie Blesson, Jean-Hubert Caberg, Cindy Skinner, Emanuela Avola, Charles Perrine, Paolo Prontera, Susan Zeesman, Małgorzata J.M. Nowaczyk, Kate Pope, Lucilla Pizzo, David J. Amor, Boris Keren, Matthew Jensen, Katrin Männik, Patrick Callier, Pawel Stankiewicz, Damian Pazuchanics, Els Voorhoeve, Ornella Galesi, Joris Andrieux, Lucia Castiglia, Anne Laure Mosca-Boidron, Mathilde Lefebvre, Charles E. Schwartz, Santhosh Girirajan, Elizabeth McCready, Anke Van Dijck, Sandra Mercier, Maja Bucan, Corrado Romano, Laurence Faivre, Francesca Mari, Dominique Martin-Coignard, Vijay Kumar, Alessandra Renieri, Andrew Polyak, Emily Huber, Cédric Le Caignec, Aurora Currò, Olivier Pichon
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-018-0266-3⟩
Genetics in Medicine, 21(4), 816-825. Lippincott Williams and Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine, vol. 21, no. 4, pp. 816-825
Pizzo, L, Jensen, M, Polyak, A, Rosenfeld, J A, Mannik, K, Krishnan, A, McCready, E, Pichon, O, Le Caignec, C, Van Dijck, A, Pope, K, Voorhoeve, E, Yoon, J, Stankiewicz, P, Cheung, S W, Pazuchanics, D, Huber, E, Kumar, V, Kember, R L, Mari, F, Curró, A, Castiglia, L, Galesi, O, Avola, E, Mattina, T, Fichera, M, Mandarà, L, Vincent, M, Nizon, M, Mercier, S, Bénéteau, C, Blesson, S, Martin-Coignard, D, Mosca-Boidron, A L, Caberg, J H, Bucan, M, Zeesman, S, Nowaczyk, M J M, Lefebvre, M, Faivre, L, Callier, P, Skinner, C, Keren, B, Perrine, C, Prontera, P, Marle, N, Renieri, A, Reymond, A, Kooy, R F, Isidor, B, Schwartz, C, Romano, C, Sistermans, E, Amor, D J, Andrieux, J & Girirajan, S 2019, ' Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants ', Genetics in Medicine, vol. 21, no. 4, pp. 816-825 . https://doi.org/10.1038/s41436-018-0266-3
Genetics in medicine
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-018-0266-3⟩
Genetics in Medicine, 21(4), 816-825. Lippincott Williams and Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine, vol. 21, no. 4, pp. 816-825
Pizzo, L, Jensen, M, Polyak, A, Rosenfeld, J A, Mannik, K, Krishnan, A, McCready, E, Pichon, O, Le Caignec, C, Van Dijck, A, Pope, K, Voorhoeve, E, Yoon, J, Stankiewicz, P, Cheung, S W, Pazuchanics, D, Huber, E, Kumar, V, Kember, R L, Mari, F, Curró, A, Castiglia, L, Galesi, O, Avola, E, Mattina, T, Fichera, M, Mandarà, L, Vincent, M, Nizon, M, Mercier, S, Bénéteau, C, Blesson, S, Martin-Coignard, D, Mosca-Boidron, A L, Caberg, J H, Bucan, M, Zeesman, S, Nowaczyk, M J M, Lefebvre, M, Faivre, L, Callier, P, Skinner, C, Keren, B, Perrine, C, Prontera, P, Marle, N, Renieri, A, Reymond, A, Kooy, R F, Isidor, B, Schwartz, C, Romano, C, Sistermans, E, Amor, D J, Andrieux, J & Girirajan, S 2019, ' Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants ', Genetics in Medicine, vol. 21, no. 4, pp. 816-825 . https://doi.org/10.1038/s41436-018-0266-3
Genetics in medicine
Purpose: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants. Methods: We analyzed quantitative cl
Autor:
Sara Mathieson, Yuval B. Simons, Shweta Ramdas, Rachel L. Kember, Michael Kourakos, Kelly Finke, Gabriela Brown, Alejandro A. Schäffer, Shi Jie Samuel Tan, Huyen Trang Dang, Maja Bucan
Publikováno v:
PLoS Computational Biology, Vol 17, Iss 2, p e1008638 (2021)
PLoS Computational Biology
PLoS Computational Biology
In this work we develop a novel algorithm for reconstructing the genomes of ancestral individuals, given genotype or sequence data from contemporary individuals and an extended pedigree of family relationships. A pedigree with complete genomes for ev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d089b874a8ba52afbbf02dfba5885e9
Autor:
Lynnea Myers, Maja Bucan, Moira Blyth, Sven Bölte, Kamran Moradkhani, Sam Polesie, Marie Vincent, Kristiina Tammimies, Johan Isaksson, Ann Nordgren, Britt-Marie Anderlid, Dubravka Hranilović
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Variable size deletions affecting 12q12 have been found in individuals with neurodevelopmental disorders (NDDs) and distinct facial and physical features. For many genetic loci affected by deletions in individuals with NDDs, reciprocal dup
Autor:
Laura Almasy, Raquel E. Gur, Javier Contreras, Vishwajit L. Nimgaonkar, Samuel R. Mathias, Henriette Raventós, Ruben C. Gur, Nina S. McCarthy, Andrew M. McIntosh, John Blangero, Jac Charlesworth, Seth A. Ament, Maja Bucan, Juan M. Peralta, Assen Jablensky, Pippa A. Thomson, Francis J. McMahon, David C. Glahn, Nicholas B. Blackburn, Joanne E. Curran, Emma Knowles
Publikováno v:
Mol Psychiatry, 24, p. 523-535 (2019)
Kérwá
Universidad de Costa Rica
instacron:UCR
Kérwá
Universidad de Costa Rica
instacron:UCR
As it is likely that both common and rare genetic variation are important for complex disease risk, studies that examine the full range of the allelic frequency distribution should be utilized to dissect the genetic influences on mental illness. The
Autor:
Sara C. Taylor, Zoe Smernoff, Mahip Grewal, Joshua A. Weiner, Sarah L. Ferri, Edward S. Brodkin, Ted Abel, Maja Bucan
Publikováno v:
Biol Psychiatry
Social affiliative behaviors-engagement in positive (i.e., nonaggressive) social approach and reciprocal social interactions with a conspecific-comprise a construct within the National Institute of Mental Health Research Domain Criteria Social Proces
Autor:
Jared C. Roach, Jeffrey R. O'Connell, William K. Scott, Maja Bucan, Jonathan L. Haines, Francis J. McMahon, Liping Hou, Rachel L. Kember, Alan R. Shuldiner, Margaret A. Pericak-Vance, Michael H. Crawford, David Craig
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
Scientific Reports
Scientific Reports
Genotype imputation is a powerful strategy for achieving the large sample sizes required for identification of variants underlying complex phenotypes, but imputation of rare variants remains problematic. Genetically isolated populations offer one sol
Autor:
Matthew Goodman, Arpita Ghorai, Till Roenneberg, Laura Almasy, Philip R. Gehrman, Richard McCluskey, Maja Bucan, Holly Barilla
Publikováno v:
Genes Brain Behav
There is a critical need for phenotypes with substantial heritability that can be used as endophenotypes in behavioral genetic studies. Activity monitoring, called actimetry, has potential as a means of assessing sleep and circadian rhythm traits tha
Autor:
Lars Andersen, Liping Hou, Lisa Estrella, Christopher D. Brown, Francis J. McMahon, Laura Almasy, Maja Bucan, Xiao Ji, Arpita Ghorai, Rachel L. Kember
Publikováno v:
Translational Psychiatry, Vol 8, Iss 1, Pp 1-12 (2018)
Translational Psychiatry
Translational Psychiatry
Bipolar disorder (BD) is a mental disorder characterized by alternating periods of depression and mania. Individuals with BD have higher levels of early mortality than the general population, and a substantial proportion of this may be due to increas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3eefe1de23e38a85f6e824eed3fa7e4f
Autor:
Maja Bucan
Publikováno v:
Proceedings of the National Academy of Sciences. 113:1477-1479
Bipolar disorder (BP), also known as manic-depressive illness, is a brain disorder that causes unusual shifts in mood, energy, and activity levels (1). Some of the most prominent and characteristic symptoms of BP include dramatic disturbances in slee
Autor:
Xiao Ji, Jun Nomura, Toru Takumi, Eiki Takahashi, Moe Nakanishi, Kota Tamada, Maja Bucan, Takashi Arai
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 13, Iss 8, p e1006940 (2017)
PLoS Genetics, Vol 13, Iss 8, p e1006940 (2017)
Genetic mutations contribute to the etiology of autism spectrum disorder (ASD), a common, heterogeneous neurodevelopmental disorder characterized by impairments in social interaction, communication, and repetitive and restricted patterns of behavior.