Zobrazeno 1 - 3
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pro vyhledávání: '"S Taylor Head"'
Publikováno v:
Bioinformatics. 39
Motivation There is widespread interest in identifying genetic variants that exhibit parent-of-origin effects (POEs) wherein the effect of an allele on phenotype expression depends on its parental origin. POEs can arise from different phenomena inclu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13e534f2432dc80ca72fb453db4340a0
https://doi.org/10.1093/bioinformatics/btad199
https://doi.org/10.1093/bioinformatics/btad199
Autor:
Kimberly K. Diaz Perez, Sydney Chung, S. Taylor Head, Michael P. Epstein, Jacqueline T. Hecht, George L. Wehby, Seth M. Weinberg, Jeffrey C. Murray, Mary L. Marazita, Elizabeth J. Leslie
Publikováno v:
medRxiv
Whole-exome sequencing (WES) is now a relatively straightforward process to identify causal variants in Mendelian disorders. However, the same is not true for WES in families where the inheritance patterns are less clear, and a complex etiology is su
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7290e15ebb13cd70f84fd994c28114d1
https://europepmc.org/articles/PMC9934724/
https://europepmc.org/articles/PMC9934724/
Autor:
David Weinshenker, Judith L. Fridovich-Keil, Jennifer M. I. Daenzer, S. Taylor Head, Jessica A. MacWilliams, Martine B. Williams, Aron M. Geurts, Shauna A. Rasmussen, Jason P. Schroeder
Publikováno v:
Journal of Inherited Metabolic Disease
Classic galactosemia (CG) is a potentially lethal inborn error of metabolism, if untreated, that results from profound deficiency of galactose‐1‐phosphate uridylyltransferase (GALT), the middle enzyme of the Leloir pathway of galactose metabolism
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::574452402c90f0bbb421b5b6357bbfb0
https://doi.org/10.1002/jimd.12205
https://doi.org/10.1002/jimd.12205