Zobrazeno 1 - 10
of 354
pro vyhledávání: '"Siper, A."'
Autor:
Antonia San José Cáceres, Emma Wilkinson, Jennifer Cooke, Victoria Baskett, Charlotte Blackmore, Daisy Victoria Crawley, Allison Durkin, Danielle Halpern, María Núñez, Page Siper, Declan G. Murphy, Jennifer Foss-Feig, Alexander Kolevzon, Eva Loth
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-11 (2024)
Abstract Background Phelan-McDermid syndrome (PMS) is a rare genetic syndrome characterized by developmental delay/intellectual disability, absent or delayed speech, physical dysmorphic features and high rates of autistic features. However, it is cur
Externí odkaz:
https://doaj.org/article/f31d6024fcf54dcd95fb362bdf6d1b21
Path of Destruction (PoD) is a self-supervised method for learning iterative generators. The core idea is to produce a training set by destroying a set of artifacts, and for each destructive step create a training instance based on the corresponding
Externí odkaz:
http://arxiv.org/abs/2305.18553
Autor:
Tess Levy, Jacob Gluckman, Paige M. Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip-Dhima, J. Lloyd Holder, M. Pilar Trelles, Kristina Johnson, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Valluripalli Soorya, Audrey Thurm, Joseph D. Buxbaum, Mustafa Sahin, Alexander Kolevzon, Siddharth Srivastava, on behalf of the Developmental Synaptopathies Consortium
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-12 (2024)
Abstract Background Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an increased risk for seizures. Previous literature indicates that around one third of individuals
Externí odkaz:
https://doaj.org/article/c7f7dd3f29da4a4e89819f90781e8706
Autor:
Ali AlMail, Ahmed Jamjoom, Amy Pan, Min Yi Feng, Vann Chau, Alissa M. D’Gama, Katherine Howell, Nicole S. Y. Liang, Amy McTague, Annapurna Poduri, Kimberly Wiltrout, IPCHiP Executive Committee, Anne S. Bassett, John Christodoulou, Lucie Dupuis, Peter Gill, Tess Levy, Paige Siper, Zornitza Stark, Jacob A. S. Vorstman, Catherine Diskin, Natalie Jewitt, Danielle Baribeau, Gregory Costain
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-8 (2024)
Abstract Genome-wide sequencing and genetic matchmaker services are propelling a new era of genotype-driven ascertainment of novel genetic conditions. The degree to which reported phenotype data in discovery-focused studies address informational prio
Externí odkaz:
https://doaj.org/article/eae52b7f6c0e4510972101b0a0c567aa
We propose a new procedural content generation method which learns iterative level generators from a dataset of existing levels. The Path of Destruction method, as we call it, views level generation as repair; levels are created by iteratively repair
Externí odkaz:
http://arxiv.org/abs/2202.10184
Akademický článek
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Autor:
Levy, Tess 1, 2, Holder, J. Lloyd, Jr. 3, 4, Horrigan, Joseph P. 5, 6, Snape, Michael F. 5, McMorn, Alison 5, Layton, Christina 7, Silver, Hailey 1, 2, Friedman, Kate 1, 2, Grosman, Hannah 8, Underwood, Slayton 1, 2, Halpern, Danielle 1, 2, Zweifach, Jessica 1, 2, Siper, Paige M. 1, 2, Kolevzon, Alexander 1, 2, 9, 10, 11, ∗
Publikováno v:
In Human Genetics and Genomics Advances December 2024
Autor:
Lai, Meng-Chuan, Amestoy, Anouck, Bishop, Somer, Brown, Heather M, Giwa Onaiwu, Morénike, Halladay, Alycia, Harrop, Clare, Hotez, Emily, Huerta, Marisela, Kelly, Amy, Miller, Dylan, Nordahl, Christine Wu, Ratto, Allison B, Saulnier, Celine, Siper, Paige M, Sohl, Kristin, Zwaigenbaum, Lonnie, Goldman, Sylvie *
Publikováno v:
In The Lancet Child & Adolescent Health December 2023 7(12):897-908
Autor:
Ali AlMail, Ahmed Jamjoom, Amy Pan, Anna Feng, Vann Chau, Alissa D'Gama, Katherine Howell, Nicole Si Yan Liang, Amy McTague, Annapurna Poduri, Kimberly Wiltrout, Anne Bassett, John Christodoulou, Lucie Dupuis, Peter Gill, Tess Levy, Paige Siper, Zornitza Stark, Jacob Vorstman, Catherine Diskin, Natalie Jewitt, Danielle Baribeau, Gregory Costain
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101145- (2024)
Externí odkaz:
https://doaj.org/article/e9a17f9808f349fcb2d6ede4cec52b9c
Autor:
Warfield, Simon K., Scherrer, Benoit, Filip-Dhima, Rajna, Dies, Kira, Siper, Paige, Hanson, Ellen, Phillips, Jennifer M., Breen, Michael S., Fan, Xuanjia, Levy, Tess, Pollak, Rebecca M., Collins, Brett, Osman, Aya, Tocheva, Anna S., Sahin, Mustafa, Berry-Kravis, Elizabeth, Soorya, Latha, Thurm, Audrey, Powell, Craig M., Bernstein, Jonathan A., Kolevzon, Alexander, Buxbaum, Joseph D.
Publikováno v:
In Human Genetics and Genomics Advances 12 January 2023 4(1)