Zobrazeno 1 - 10
of 13
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:
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:
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:
Takashi Arai, Eiki Takahashi, Toru Takumi, Maja Bucan, Jun Nomura, Moe Nakanishi, Xiao Ji, Kota Tamada
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 13, Iss 10, p e1007035 (2017)
PLoS Genetics, Vol 13, Iss 10, p e1007035 (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.
Autor:
Maja Bucan, Dwight Stambolian, Joan E. Bailey-Wilson, Benjamin Georgi, Rachel L. Kember, Steven M. Paul
Publikováno v:
BMC Genetics
Background Bipolar affective disorder (BP) is a common, highly heritable psychiatric disorder characterized by periods of depression and mania. Using dense SNP genotype data, we characterized CNVs in 388 members of an Old Order Amish Pedigree with bi
Autor:
Nicole B. Gidaya, Thomas Owley, Dexter Hadley, Ted Hutman, John A. Sweeney, Ana I. Alvarez Retuerto, Joseph T. Glessner, Mingyao Li, Rita M. Cantor, Edward I. Herman, James S. Sutcliffe, Struan F.A. Grant, Vlad Kustanovich, Lisa I. Sonnenblick, Gerard D. Schellenberg, Clara Lajonchere, Cecilia Kim, Marian Sigman, Kai Wang, Brett S. Abrahams, Joseph D. Buxbaum, Ingrid E. Lindquist, Daniel H. Geschwind, Maja Bucan, Marcin Imielinski, Junhyong Kim, Edwin H. Cook, John I. Nurnberger, Thomas H. Wassink, Andrew B. Singleton, Jonathan P. Bradfield, Geraldine Dawson, Hakon Hakonarson, Nancy J. Minshew, Hilary Coon, William M. McMahon
Publikováno v:
PLoS genetics, vol 5, iss 6
PLoS Genetics
PLoS Genetics, Vol 5, Iss 6, p e1000536 (2009)
PLoS Genetics
PLoS Genetics, Vol 5, Iss 6, p e1000536 (2009)
The genetics underlying the autism spectrum disorders (ASDs) is complex and remains poorly understood. Previous work has demonstrated an important role for structural variation in a subset of cases, but has lacked the resolution necessary to move bey
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35a79de7cf676eff240e2465e64c7345
https://escholarship.org/uc/item/40v0j9t6
https://escholarship.org/uc/item/40v0j9t6
Autor:
Ingrid E. Lindquist, Sara Nasser, David Craig, Christopher D. Brown, Maja Bucan, Janice A. Egeland, Steven M. Paul, Wencheng Liu, Benjamin Georgi, Rachel L. Kember
Publikováno v:
PLoS Genetics, Vol 10, Iss 3, p e1004229 (2014)
PLoS Genetics
PLoS Genetics
Bipolar disorder is a common, heritable mental illness characterized by recurrent episodes of mania and depression. Despite considerable effort to elucidate the genetic underpinnings of bipolar disorder, causative genetic risk factors remain elusive.
Autor:
Li-San Wang, Brittany L. Gregory, Shuzhang Yang, Hakon Hakonarson, Wade H. Berrettini, Kai Wang, Maja Bucan
Publikováno v:
PLoS ONE
PLoS ONE, Vol 4, Iss 2, p e4474 (2009)
PLoS ONE, Vol 4, Iss 2, p e4474 (2009)
Bipolar disorder (BPD) is a common psychiatric illness with a complex mode of inheritance. Besides traditional linkage and association studies, which require large sample sizes, analysis of common and rare chromosomal copy number variants (CNVs) in e