Zobrazeno 1 - 10
of 73
pro vyhledávání: '"Tychele N Turner"'
Autor:
Tychele N. Turner
Publikováno v:
BMC Bioinformatics, Vol 24, Iss 1, Pp 1-6 (2023)
Abstract Background The study of de novo variation is important for assessing biological characteristics of new variation and for studies related to human phenotypes. Software programs exist to call de novo variants and programs also exist to test th
Externí odkaz:
https://doaj.org/article/13583c15668f4ceb9ffba72f22553a63
Autor:
Naeimeh Tayebi, Brian Leon‐Ricardo, Kevin McCall, Elvisa Mehinovic, Kristin Engelstad, Vincent Huynh, Tychele N. Turner, Judy Weisenberg, Liu L. Thio, Paul Hruz, Robin S. B. Williams, Darryl C. De Vivo, Vincent Petit, Gabe Haller, Christina A. Gurnett
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 5, Pp 787-801 (2023)
Abstract Objective The goal of this study is to demonstrate the utility of a growth assay to quantify the functional impact of single nucleotide variants (SNVs) in SLC2A1, the gene responsible for Glut1DS. Methods The functional impact of 40 SNVs in
Externí odkaz:
https://doaj.org/article/8965eaa1967a46efa6f51cdbea956310
Autor:
Natasha Marrus, Tychele N. Turner, Elizabeth Forsen, Drew Bolster, Alison Marvin, Andrew Whitehouse, Laura Klinger, Christina A. Gurnett, J. N. Constantino
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-13 (2021)
Abstract Background Although autism spectrum disorders (ASD) are among the most heritable of all neuropsychiatric syndromes, most affected children are born to unaffected parents. Recently, we reported an average increase of 3–5% over general popul
Externí odkaz:
https://doaj.org/article/ddd6560da63340d5b63588d9239d2312
Autor:
Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul Gontarz, Bo Zhang, Fumihiko Urano, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner, John N. Constantino, Kristen L. Kroll
Publikováno v:
BMC Biology, Vol 19, Iss 1, Pp 1-26 (2021)
Abstract Background Copy number variants (CNVs) linked to genes involved in nervous system development or function are often associated with neuropsychiatric disease. While CNVs involving deletions generally cause severe and highly penetrant patient
Externí odkaz:
https://doaj.org/article/28040e7bbee74beeb05f76bab9132942
Autor:
Evin M. Padhi, Tristan J. Hayeck, Zhang Cheng, Sumantra Chatterjee, Brandon J. Mannion, Marta Byrska-Bishop, Marjolaine Willems, Lucile Pinson, Sylvia Redon, Caroline Benech, Kevin Uguen, Séverine Audebert-Bellanger, Cédric Le Marechal, Claude Férec, Stephanie Efthymiou, Fatima Rahman, Shazia Maqbool, Reza Maroofian, Henry Houlden, Rajeeva Musunuri, Giuseppe Narzisi, Avinash Abhyankar, Riana D. Hunter, Jennifer Akiyama, Lauren E. Fries, Jeffrey K. Ng, Elvisa Mehinovic, Nick Stong, Andrew S. Allen, Diane E. Dickel, Raphael A. Bernier, David U. Gorkin, Len A. Pennacchio, Michael C. Zody, Tychele N. Turner
Publikováno v:
Human Genomics, Vol 15, Iss 1, Pp 1-15 (2021)
Abstract Background Previous research in autism and other neurodevelopmental disorders (NDDs) has indicated an important contribution of protein-coding (coding) de novo variants (DNVs) within specific genes. The role of de novo noncoding variation ha
Externí odkaz:
https://doaj.org/article/a0957b4159c64ec8b85c8227ab117a02
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Abstract The ribosomal RNA genes (rDNA) are tandemly arrayed in most eukaryotes and exhibit vast copy number variation. There is growing interest in integrating this variation into genotype–phenotype associations. Here, we explored a possible assoc
Externí odkaz:
https://doaj.org/article/81d802df5c8344f9810a6cf9b91b6a9c
Autor:
Eleanor I. Sams, Jeffrey K. Ng, Victoria Tate, Ying-Chen Claire Hou, Yang Cao, Lucinda Antonacci-Fulton, Khadija Belhassan, Julie Neidich, Robi D. Mitra, F. Sessions Cole, Patricia Dickson, Jeffrey Milbrandt, Tychele N. Turner
Publikováno v:
HGG Advances, Vol 3, Iss 1, Pp 100081- (2022)
While 9p deletion and duplication syndromes have been studied for several years, small sample sizes and minimal high-resolution data have limited a comprehensive delineation of genotypic and phenotypic characteristics. In this study, we examined gene
Externí odkaz:
https://doaj.org/article/430a1f3c59fe42e7b91d28106053d35a
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-16 (2017)
Abstract Next-generation sequencing (NGS) is now more accessible to clinicians and researchers. As a result, our understanding of the genetics of neurodevelopmental disorders (NDDs) has rapidly advanced over the past few years. NGS has led to the dis
Externí odkaz:
https://doaj.org/article/324d895777ee4906ade7e441b21fc4bb
Autor:
Rachel K. Earl, Tychele N. Turner, Heather C. Mefford, Caitlin M. Hudac, Jennifer Gerdts, Evan E. Eichler, Raphael A. Bernier
Publikováno v:
Molecular Autism, Vol 8, Iss 1, Pp 1-15 (2017)
Abstract Background DYRK1A is a gene recurrently disrupted in 0.1–0.5% of the ASD population. A growing number of case reports with DYRK1A haploinsufficiency exhibit common phenotypic features including microcephaly, intellectual disability, speech
Externí odkaz:
https://doaj.org/article/56bd571ca77e4cabb2e956e9e1f6870a
Autor:
Tychele N. Turner
BackgroundThe study ofde novovariation is important for assessing biological characteristics of new variation and for studies related to human phenotypes. Software programs exist to callde novovariants and programs also exist to test the burden of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::91c3763f633fae15f5b85b7ad07dadf0
https://doi.org/10.1101/2023.04.11.536422
https://doi.org/10.1101/2023.04.11.536422