Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Stormy Chamberlain"'
Autor:
Qinyu Hao, Minxue Liu, Swapna Vidhur Daulatabad, Saba Gaffari, You Jin Song, Rajneesh Srivastava, Shivang Bhaskar, Anurupa Moitra, Hazel Mangan, Elizabeth Tseng, Rachel B Gilmore, Susan M Frier, Xin Chen, Chengliang Wang, Sui Huang, Stormy Chamberlain, Hong Jin, Jonas Korlach, Brian McStay, Saurabh Sinha, Sarath Chandra Janga, Supriya G Prasanth, Kannanganattu V Prasanth
Publikováno v:
eLife, Vol 13 (2024)
Out of the several hundred copies of rRNA genes arranged in the nucleolar organizing regions (NOR) of the five human acrocentric chromosomes, ~50% remain transcriptionally inactive. NOR-associated sequences and epigenetic modifications contribute to
Externí odkaz:
https://doaj.org/article/125bf24a87b9450d9f1f38fca36d642a
Autor:
Joel Frohlich, Lawrence T. Reiter, Vidya Saravanapandian, Charlotte DiStefano, Scott Huberty, Carly Hyde, Stormy Chamberlain, Carrie E. Bearden, Peyman Golshani, Andrei Irimia, Richard W. Olsen, Joerg F. Hipp, Shafali S. Jeste
Publikováno v:
Molecular Autism, Vol 10, Iss 1, Pp 1-15 (2019)
Abstract Background Duplications of 15q11.2-q13.1 (Dup15q syndrome), including the paternally imprinted gene UBE3A and three nonimprinted gamma-aminobutyric acid type-A (GABAA) receptor genes, are highly penetrant for neurodevelopmental disorders suc
Externí odkaz:
https://doaj.org/article/7663de861abe46c8bab5e459db26cd65
Autor:
Joel Frohlich, Lawrence T. Reiter, Vidya Saravanapandian, Charlotte DiStefano, Scott Huberty, Carly Hyde, Stormy Chamberlain, Carrie E. Bearden, Peyman Golshani, Andrei Irimia, Richard W. Olsen, Joerg F. Hipp, Shafali S. Jeste
Publikováno v:
Molecular Autism, Vol 10, Iss 1, Pp 1-1 (2019)
Following publication of the original article [1], we have been notified that the Ethics statement of the articles should be changed. The Ethics statement now reads:
Externí odkaz:
https://doaj.org/article/f21922d2a45c4e27900ff5c9e664b2a9
Autor:
Elizabeth Buttermore, Stormy Chamberlain, Jannine Cody, Gregory Costain, Louis Dang, Andrew DeWoody, Yssa DeWoody, Kira Dies, Evan Eichler, Santhosh Girirajan, Marie Gramm, Alycia Halladay, Dennis Lal, Matthew Lalli, Tess Levy, Glennis Logsdon, Daniel Lowenstein, Heather Mefford, Jennifer Mulle, Alysson Muotri, Melissa Murphy, Eduardo Perez Palma, Stefan Pinter, Rebecca Pollak, Ryan Purcell, Rodney Samaco, Bina Shah, Karun Singh, Joyce So, Maria Sundberg, Surabi Veeraragavan, Vanessa Vogel-Farley, Anthony Wynshaw-Boris
Publikováno v:
Am J Hum Genet
Copy-number variants and structural variants (CNVs/SVs) drive many neurodevelopmental-related disorders. While many neurodevelopmental-related CNVs/SVs give rise to complex phenotypes, the overlap in phenotypic presentation between independent CNVs c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0540d7d6b7ef8fac51990e15ee9abe10
https://europepmc.org/articles/PMC9388383/
https://europepmc.org/articles/PMC9388383/
Autor:
Qinyu Hao, Minxue Liu, Swapna Vidhur Daulatabad, Saba Gaffari, Rajneesh Srivastava, You Jin Song, Shivang Bhaskar, Anurupa Moitra, Hazel Mangan, Elizabeth Tseng, Rachel B. Gilmore, Susan M. Freier, Xin Chen, Chengliang Wang, Sui Huang, Stormy Chamberlain, Hong Jin, Jonas Korlach, Brian McStay, Saurabh Sinha, Sarath Chandra Janga, Supriya G. Prasanth, Kannanganattu V. Prasanth
Out of the several hundred copies of rRNA genes that are arranged in the nucleolar organizing regions (NOR) of the five human acrocentric chromosomes, ∼50% remain transcriptionally inactive. NOR-associated sequences and epigenetic modifications con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::853f0f42a95598355aebac8008687fdc
https://doi.org/10.1101/2022.07.04.498693
https://doi.org/10.1101/2022.07.04.498693