Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Harper B Fauni"'
Autor:
Benxia Hu, Jessica C. McAfee, Won Mah, Schahram Akbarian, Prashanth Rajarajan, Nancy Y A Sey, Harper B. Fauni, Hyejung Won, Kristen J. Brennand
Publikováno v:
Nature Neuroscience. 23:583-593
Most risk variants for brain disorders identified by genome-wide association studies reside in the noncoding genome, which makes deciphering biological mechanisms difficult. A commonly used tool, multimarker analysis of genomic annotation (MAGMA), ad
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d6414d70177abcf8bb5e15138761b61f
https://doi.org/10.1038/s41593-020-0603-0
https://doi.org/10.1038/s41593-020-0603-0
Autor:
James Holt, Prashant Sharma, Precilla D'Souza, Cynthia J. Tifft, Paul R. Lee, Erin Torti, Stephen R. Braddock, Ellen Macnamara, Alanna E. Koehler, Gilbert Vezina, Tyra Estwick, Harper B Fauni, May Christine V. Malicdan
Publikováno v:
Human Mutation. 40:532-538
Syndromic sensorineural hearing loss is multigenic and associated with malformations of the ear and other organ systems. Herein we describe a child admitted to the NIH Undiagnosed Diseases Program with global developmental delay, sensorineural hearin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::53f0299c93c4bb39b882be790a9976ca
https://doi.org/10.1002/humu.23722
https://doi.org/10.1002/humu.23722
Autor:
May Christine V. Malicdan, Jun Tian, Lawrence T. Reiter, Chris Balak, Kevin A. Hope, Michel G. Tremblay, David R. Adams, Harper B Fauni, Jianfeng Xiao, Camilo Toro, Alexis L Franks, Roderick T. Hori, Amy Goldstein, William A. Gahl, Mark S. LeDoux, Lynne A. Wolfe, Mohammad Moshahid Khan, Tom Moss, Cynthia J. Tifft
Publikováno v:
Human Molecular Genetics
UBTF (upstream binding transcription factor) exists as two isoforms; UBTF1 regulates rRNA transcription by RNA polymerase 1, whereas UBTF2 regulates mRNA transcription by RNA polymerase 2. Herein, we describe 4 patients with very similar patterns of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f220a8f9d4425d3fb91b26bf1a174035
https://doi.org/10.1093/hmg/ddx435
https://doi.org/10.1093/hmg/ddx435
Autor:
Fernando Pardo-Manuel de Villena, Timothy A. Bell, Leonard McMillan, Anwica Kashfeen, Harper B. Fauni
Publikováno v:
BCB
A large fraction of mammalian genome consists of transposable elements (TEs). These elements are segments of DNA that either move or are copied from one place in the genome to another. Such movements can cause deleterious mutations and drive chromoso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0e702281fa9c6bbe521d6181bc191a13
https://doi.org/10.1145/3307339.3342182
https://doi.org/10.1145/3307339.3342182
Despite being clinically distinguishable, many neuropsychiatric disorders display a remarked level of genetic correlation and overlapping symptoms. Deciphering neurobiological mechanisms underlying potential shared genetic etiology is challenging bec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eddb36e04720a65e5bfb82b2a35721fa
https://doi.org/10.1101/681353
https://doi.org/10.1101/681353
