Zobrazeno 1 - 10
of 393
pro vyhledávání: '"Maja Bucan"'
Autor:
Jing Zhang, J. Dylan Weissenkampen, Rachel L. Kember, iPSYCH Consortium, Jakob Grove, Anders D. Børglum, Elise B. Robinson, Edward S. Brodkin, Laura Almasy, Maja Bucan, Ronnie Sebro
Publikováno v:
Molecular Autism, Vol 15, Iss 1, Pp 1-14 (2024)
Abstract Background Positive assortative mating (AM) in several neuropsychiatric traits, including autism, has been noted. However, it is unknown whether the pattern of AM is different in phenotypically defined autism subgroups [e.g., autism with and
Externí odkaz:
https://doaj.org/article/614572123c374482bc1fe8004baf35f9
Autor:
Hang Yuan, Tatiana Plekhanova, Rosemary Walmsley, Amy C. Reynolds, Kathleen J. Maddison, Maja Bucan, Philip Gehrman, Alex Rowlands, David W. Ray, Derrick Bennett, Joanne McVeigh, Leon Straker, Peter Eastwood, Simon D. Kyle, Aiden Doherty
Publikováno v:
npj Digital Medicine, Vol 7, Iss 1, Pp 1-10 (2024)
Abstract Sleep is essential to life. Accurate measurement and classification of sleep/wake and sleep stages is important in clinical studies for sleep disorder diagnoses and in the interpretation of data from consumer devices for monitoring physical
Externí odkaz:
https://doaj.org/article/36ffd372308e479ea4a5dd8446781704
Autor:
Hang Yuan, Tatiana Plekhanova, Rosemary Walmsley, Amy C. Reynolds, Kathleen J. Maddison, Maja Bucan, Philip Gehrman, Alex Rowlands, David W. Ray, Derrick Bennett, Joanne McVeigh, Leon Straker, Peter Eastwood, Simon D. Kyle, Aiden Doherty
Publikováno v:
npj Digital Medicine, Vol 7, Iss 1, Pp 1-1 (2024)
Externí odkaz:
https://doaj.org/article/f4e70a730cf045469f65a5d4053d739f
Autor:
Bing Xu, Yugong Ho, Maria Fasolino, Joanna Medina, William Timothy O'Brien, Janine M Lamonica, Erin Nugent, Edward S Brodkin, Marc V Fuccillo, Maja Bucan, Zhaolan Zhou
Publikováno v:
PLoS Genetics, Vol 19, Iss 2, p e1010659 (2023)
Copy number variations (CNVs) in the Neurexin 1 (NRXN1) gene, which encodes a presynaptic protein involved in neurotransmitter release, are some of the most frequently observed single-gene variants associated with autism spectrum disorder (ASD). To a
Externí odkaz:
https://doaj.org/article/e17dcd2428b74740955f0b5cd9f92273
Autor:
Pilar Cacheiro, Violeta Muñoz-Fuentes, Stephen A. Murray, Mary E. Dickinson, Maja Bucan, Lauryl M. J. Nutter, Kevin A. Peterson, Hamed Haselimashhadi, Ann M. Flenniken, Hugh Morgan, Henrik Westerberg, Tomasz Konopka, Chih-Wei Hsu, Audrey Christiansen, Denise G. Lanza, Arthur L. Beaudet, Jason D. Heaney, Helmut Fuchs, Valerie Gailus-Durner, Tania Sorg, Jan Prochazka, Vendula Novosadova, Christopher J. Lelliott, Hannah Wardle-Jones, Sara Wells, Lydia Teboul, Heather Cater, Michelle Stewart, Tertius Hough, Wolfgang Wurst, Radislav Sedlacek, David J. Adams, John R. Seavitt, Glauco Tocchini-Valentini, Fabio Mammano, Robert E. Braun, Colin McKerlie, Yann Herault, Martin Hrabě de Angelis, Ann-Marie Mallon, K. C. Kent Lloyd, Steve D. M. Brown, Helen Parkinson, Terrence F. Meehan, Damian Smedley, The Genomics England Research Consortium, The International Mouse Phenotyping Consortium
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Discovery of causal variants for monogenic disorders has been facilitated by whole exome and genome sequencing, but does not provide a diagnosis for all patients. Here, the authors propose a Full Spectrum of Intolerance to Loss-of-Function (FUSIL) ca
Externí odkaz:
https://doaj.org/article/38973450f49d45729ee9836b3968bc61
Autor:
James Eberwine, Junhyong Kim, Ron C. Anafi, Steven Brem, Maja Bucan, Stephen A. Fisher, M. Sean Grady, Amy E. Herr, David Issadore, Hyejoong Jeong, HyunBum Kim, Daeyeon Lee, Stanislav Rubakhin, Jai-Yoon Sul, Jonathan V. Sweedler, John A. Wolf, Kenneth S. Zaret, James Zou
Publikováno v:
Nat Methods
We argue that the study of single-cell subcellular organelle omics is needed to understand and regulate cell function. This requires and is being enabled by new technology development.
Autor:
Lynnea Myers, Moira Blyth, Kamran Moradkhani, Dubravka Hranilović, Sam Polesie, Johan Isaksson, Ann Nordgren, Maja Bucan, Marie Vincent, Sven Bölte, Britt‐Marie Anderlid, Kristiina Tammimies
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
Abstract 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, recip
Externí odkaz:
https://doaj.org/article/6cb06b64e52c4a0c80812fb5ae5e192c
Autor:
Liping Hou, Rachel L. Kember, Jared C. Roach, Jeffrey R. O’Connell, David W. Craig, Maja Bucan, William K. Scott, Margaret Pericak-Vance, Jonathan L. Haines, Michael H. Crawford, Alan R. Shuldiner, Francis J. McMahon
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
Abstract 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 offe
Externí odkaz:
https://doaj.org/article/6a8623fc26ce404885a3507e220acdd0
Autor:
Elizabeth M. Humphries, Kwangmi Ahn, Rachel L. Kember, Fabiana L. Lopes, Evelina Mocci, Juan M. Peralta, John Blangero, David C. Glahn, Fernando S. Goes, Peter P. Zandi, Peter Kochunov, Cristopher Van Hout, Alan R. Shuldiner, Toni I. Pollin, Braxton D. Mitchell, Maja Bucan, L. Elliot Hong, Francis J. McMahon, Seth A. Ament
Publikováno v:
Molecular Psychiatry.
Autor:
Stacey Elkhatib Smidt, Arpita Ghorai, Brielle Gehringer, Holly Dow, Zoe Smernoff, Sara Taylor, Jing Zhang, Daniel Rader, Laura Almasy, Edward Brodkin, Maja Bucan
Publikováno v:
Journal of Clinical and Translational Science, Vol 4, Pp 72-72 (2020)
OBJECTIVES/GOALS: Autism spectrum disorder (ASD) is characterized by difficulties in communication and social interaction as well as restricted and repetitive behaviors. Sleep problems are a common concern in children with ASD that can persist into a
Externí odkaz:
https://doaj.org/article/5d7763922d954307a907f1da85a6bbea