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Yvonne J. K. Edwards
Researcher at University of Massachusetts Medical School
Publications - 86
Citations - 5477
Yvonne J. K. Edwards is an academic researcher from University of Massachusetts Medical School. The author has contributed to research in topics: Gene & Genome. The author has an hindex of 34, co-authored 84 publications receiving 5092 citations. Previous affiliations of Yvonne J. K. Edwards include University of Miami & Birkbeck, University of London.
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Journal ArticleDOI
Whole-Genome Shotgun Assembly and Analysis of the Genome of Fugu rubripes
Samuel Aparicio,Jarrod Chapman,Elia Stupka,Nik Putnam,Jer Ming Chia,Paramvir S. Dehal,Alan Christoffels,Sam Rash,Shawn Hoon,Arian F.A. Smit,Maarten D. Sollewijn Gelpke,Jared C. Roach,Tania Oh,Isaac Ho,Marie Wong,Chris Detter,Frans Verhoef,Paul Predki,Alice Tay,Susan Lucas,Paul G. Richardson,Sarah Smith,Melody S. Clark,Yvonne J. K. Edwards,Norman A. Doggett,Andrey Zharkikh,Sean V. Tavtigian,Dmitry Pruss,Mary Barnstead,Cheryl Evans,Holly Baden,Justin Powell,Gustavo Glusman,Lee Rowen,Leroy Hood,Y. H. Tan,Greg Elgar,Trevor Hawkins,Byrappa Venkatesh,Daniel S. Rokhsar,Sydney Brenner +40 more
TL;DR: The Fugu rubripes genome has been sequenced to over 95% coverage, and more than 80% of the assembly is in multigene-sized scaffolds as discussed by the authors.
Journal ArticleDOI
Highly conserved non-coding sequences are associated with vertebrate development.
Adam Woolfe,Martin Goodson,Debbie K. Goode,Phil Snell,Gayle K. McEwen,Tanya Vavouri,Sarah Smith,Phil North,Heather Callaway,Krys Kelly,Klaudia Walter,Irina I. Abnizova,Walter R. Gilks,Yvonne J. K. Edwards,Julie E. Cooke,Greg Elgar +15 more
TL;DR: A whole-genome comparison between humans and the pufferfish, Fugu rubripes, is used to identify nearly 1,400 highly conserved non-coding sequences, which are likely to form part of the genomic circuitry that uniquely defines vertebrate development.
Journal ArticleDOI
Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa
Stephan Züchner,Julia E. Dallman,Rong Wen,Gary W. Beecham,Adam C. Naj,Amjad Farooq,Martin A. Kohli,Patrice L. Whitehead,William Hulme,Ioanna Konidari,Yvonne J. K. Edwards,Guiqing Cai,Inga Peter,David Seo,Joseph D. Buxbaum,Jonathan L. Haines,Susan H. Blanton,Juan Young,Eduardo C. Alfonso,Jeffery M. Vance,Byron L. Lam,Margaret A. Pericak-Vance +21 more
TL;DR: The findings demonstrate the power of exome sequencing linked to functional studies when faced with challenging study designs and link RP to the pathways of N-linked glycosylation, which promise new avenues for therapeutic interventions.
Journal ArticleDOI
Brown Fat AKT2 Is a Cold-Induced Kinase that Stimulates ChREBP-Mediated De Novo Lipogenesis to Optimize Fuel Storage and Thermogenesis
Joan Sanchez-Gurmaches,Yuefeng Tang,Naja Z. Jespersen,Martina Wallace,Camila Martinez Calejman,Sharvari Gujja,Huawei Li,Yvonne J. K. Edwards,Christian Wolfrum,Christian M. Metallo,Søren Nielsen,Camilla Scheele,David A. Guertin +12 more
TL;DR: Evidence suggesting that AKT2 drives DNL in adipocytes by stimulating ChREBPβ transcriptional activity and that cold induces theAKT2-ChREBP pathway in BAT to optimize fuel storage and thermogenesis is provided.
Journal ArticleDOI
Whole-exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss
Oscar Diaz-Horta,Duygu Duman,Joseph Foster,Asli Sirmaci,Michael A. Gonzalez,Nejat Mahdieh,Nikou Fotouhi,Mortaza Bonyadi,Filiz Basak Cengiz,Ibis Menéndez,Rick H. Ulloa,Yvonne J. K. Edwards,Stephan Züchner,Susan H. Blanton,Mustafa Tekin +14 more
TL;DR: The results show that rare causative mutations in known ARNSHL genes can be reliably identified via whole-exome sequencing and the excess of heterozygous variants should be considered during search for causative mutation in AR NSHL genes, especially in small-sized families.