Zobrazeno 1 - 10
of 431
pro vyhledávání: '"Santhosh, Girirajan"'
Autor:
Soo-Whee Kim, Hyeji Lee, Da Yea Song, Gang-Hee Lee, Jungeun Ji, Jung Woo Park, Jae Hyun Han, Jee Won Lee, Hee Jung Byun, Ji Hyun Son, Ye Rim Kim, Yoojeong Lee, Jaewon Kim, Ashish Jung, Junehawk Lee, Eunha Kim, So Hyun Kim, Jeong Ho Lee, F. Kyle Satterstrom, Santhosh Girirajan, Anders D. Børglum, Jakob Grove, Eunjoon Kim, Donna M. Werling, Hee Jeong Yoo, Joon-Yong An
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)
Abstract Background Whole-genome sequencing (WGS) analyses have found higher genetic burden in autistic females compared to males, supporting higher liability threshold in females. However, genomic evidence of sex differences has been limited to Euro
Externí odkaz:
https://doaj.org/article/166c9e0cc2fe49d3a0572f9fa7e472de
Autor:
Matthew Jensen, Anastasia Tyryshkina, Lucilla Pizzo, Corrine Smolen, Maitreya Das, Emily Huber, Arjun Krishnan, Santhosh Girirajan
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-21 (2021)
Abstract Background Recent studies have suggested that individual variants do not sufficiently explain the variable expressivity of phenotypes observed in complex disorders. For example, the 16p12.1 deletion is associated with developmental delay and
Externí odkaz:
https://doaj.org/article/d9f8a8092de1449db482756910d62953
Autor:
Maitreya Das, Santhosh Girirajan
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-4 (2021)
Abstract High-throughput sequencing of large affected cohorts have helped uncover a plethora of risk genes for complex neurodevelopmental disorders. However, untangling complex disease etiology also involves understanding the functional consequences
Externí odkaz:
https://doaj.org/article/474f70d524d9475a8eba6526237a8f45
Autor:
Stuart Cantsilieris, Susan M. Sunkin, Matthew E. Johnson, Fabio Anaclerio, John Huddleston, Carl Baker, Max L. Dougherty, Jason G. Underwood, Arvis Sulovari, PingHsun Hsieh, Yafei Mao, Claudia Rita Catacchio, Maika Malig, AnneMarie E. Welch, Melanie Sorensen, Katherine M. Munson, Weihong Jiang, Santhosh Girirajan, Mario Ventura, Bruce T. Lamb, Ronald A. Conlon, Evan E. Eichler
Publikováno v:
Genome Biology, Vol 21, Iss 1, Pp 1-35 (2020)
Abstract Background The complex interspersed pattern of segmental duplications in humans is responsible for rearrangements associated with neurodevelopmental disease, including the emergence of novel genes important in human brain evolution. We inves
Externí odkaz:
https://doaj.org/article/c298b2c7af2145a8892cd82025ceb851
Autor:
Micaela Lasser, Jessica Bolduc, Luke Murphy, Caroline O'Brien, Sangmook Lee, Santhosh Girirajan, Laura Anne Lowery
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Copy number variants (CNVs) associated with neurodevelopmental disorders are characterized by extensive phenotypic heterogeneity. In particular, one CNV was identified in a subset of children clinically diagnosed with intellectual disabilities (ID) t
Externí odkaz:
https://doaj.org/article/5c5eb50256d544b88350b791cab466e7
Autor:
Rachel L. Markley, Katherine H. Restori, Bhuvana Katkere, Sarah E. Sumner, McKayla J. Nicol, Anastasia Tyryshkina, Shaneice K. Nettleford, David R. Williamson, David E. Place, Kalyan K. Dewan, Ashley E. Shay, Bradley A. Carlson, Santhosh Girirajan, K. Sandeep Prabhu, Girish S. Kirimanjeswara
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
The essential micronutrient Selenium (Se) is co-translationally incorporated as selenocysteine into proteins. Selenoproteins contain one or more selenocysteines and are vital for optimum immunity. Interestingly, many pathogenic bacteria utilize Se fo
Externí odkaz:
https://doaj.org/article/99bbee9a907a441aa3a38efdca6ca9f1
Autor:
Julie Chow, Matthew Jensen, Hajar Amini, Farhad Hormozdiari, Osnat Penn, Sagiv Shifman, Santhosh Girirajan, Fereydoun Hormozdiari
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-14 (2019)
Abstract Background Neurodevelopmental disorders (NDDs) such as autism spectrum disorder, intellectual disability, developmental disability, and epilepsy are characterized by abnormal brain development that may affect cognition, learning, behavior, a
Externí odkaz:
https://doaj.org/article/02b18537ec4e431c8533a1420976ad36
Autor:
Lucilla Pizzo, Micaela Lasser, Tanzeen Yusuff, Matthew Jensen, Phoebe Ingraham, Emily Huber, Mayanglambam Dhruba Singh, Connor Monahan, Janani Iyer, Inshya Desai, Siddharth Karthikeyan, Dagny J Gould, Sneha Yennawar, Alexis T Weiner, Vijay Kumar Pounraja, Arjun Krishnan, Melissa M Rolls, Laura Anne Lowery, Santhosh Girirajan
Publikováno v:
PLoS Genetics, Vol 17, Iss 4, p e1009112 (2021)
We previously identified a deletion on chromosome 16p12.1 that is mostly inherited and associated with multiple neurodevelopmental outcomes, where severely affected probands carried an excess of rare pathogenic variants compared to mildly affected ca
Externí odkaz:
https://doaj.org/article/ea88765e5dca40999d37fc1d27f96ec3
Publikováno v:
Genome Research. 33:479-495
High-throughput methods such as RNA-seq, ChIP-seq, and ATAC-seq have well-established guidelines, commercial kits, and analysis pipelines that enable consistency and wider adoption for understanding genome function and regulation. STARR-seq, a popula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47ef2f8371edc558c6265263ef7ceee6
https://doi.org/10.1101/gr.277204.122
https://doi.org/10.1101/gr.277204.122
Autor:
Tanzeen Yusuff, Matthew Jensen, Sneha Yennawar, Lucilla Pizzo, Siddharth Karthikeyan, Dagny J Gould, Avik Sarker, Erika Gedvilaite, Yurika Matsui, Janani Iyer, Zhi-Chun Lai, Santhosh Girirajan
Publikováno v:
PLoS Genetics, Vol 16, Iss 6, p e1008792 (2020)
While rare pathogenic copy-number variants (CNVs) are associated with both neuronal and non-neuronal phenotypes, functional studies evaluating these regions have focused on the molecular basis of neuronal defects. We report a systematic functional an
Externí odkaz:
https://doaj.org/article/5f99cb0ded5442ca8e008ae6d0d92172