R
Ruth Y. Eberhardt
Researcher at Wellcome Trust Sanger Institute
Publications - 48
Citations - 36234
Ruth Y. Eberhardt is an academic researcher from Wellcome Trust Sanger Institute. The author has contributed to research in topics: Exome sequencing & Protein family. The author has an hindex of 26, co-authored 46 publications receiving 33148 citations. Previous affiliations of Ruth Y. Eberhardt include University of Cambridge & Swiss Institute of Bioinformatics.
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Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders
Emilie M. Wigdor,Kaitlin E. Samocha,Ruth Y. Eberhardt,V. K. Chundru,H Firth,Caroline F. Wright,Matthew E. Hurles,Hilary C. Martin +7 more
TL;DR: The authors investigated whether common variants exert their effects by modifying gene expression, using multi-cis-expression quantitative trait loci (cis eQTL) prediction models, and found limited evidence that common cis-eQTLs modify penetrance of rare coding variants in a large cohort of NDD probands.
Journal ArticleDOI
Prevalence of deleterious variants in MC3R in patients with constitutional delay of growth and puberty.
Katie Duckett,Alice E. Williamson,John W.R. Kincaid,Kara Rainbow,Laura J Corbin,Hilary C. Martin,Ruth Y. Eberhardt,Qin Qin Huang,Matthew E. Hurles,Raja Brauner,Angela Delaney,Leo Dunkel,Romina P Grinspon,Janet E. Hall,Joel N. Hirschhorn,Sasha Howard,Ana Claudia Latronico,Alexander A. L. Jorge,Ken McElreavey,Verónica Mericq,Paulina M. Merino,Mark R. Palmert,Lacey Plummer,Rodolfo Rey,R. C. Rezende,Stephanie B. Seminara,Kathryn B Salnikov,Indraneel Banerjee,Brian Y.H. Lam,John R. B. Perry,Nicholas J. Timpson,Peter E. Clayton,Yee-Ming Chan,Ken K. Ong,Stephen O'Rahilly +34 more
TL;DR: The melanocortin 3 receptor (MC3R) has recently emerged as a critical regulator of pubertal timing, linear growth and the acquisition of lean mass in humans and mice as mentioned in this paper .
Posted ContentDOI
Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms
Caroline F. Wright,Nicholas M Quaife,Laura Ramos-Hernández,Petr Danecek,Matteo P. Ferla,Kaitlin E. Samocha,Joanna Kaplanis,Eugene J. Gardner,Ruth Y. Eberhardt,Katherine R. Chao,Katherine R. Chao,Konrad J. Karczewski,Konrad J. Karczewski,Joannella Morales,Meena Balasubramanian,Siddharth Banka,Siddharth Banka,Lianne Gompertz,Bronwyn Kerr,Amelia Kirby,Sally Ann Lynch,Jenny Morton,Hailey Pinz,Francis H. Sansbury,Helen Stewart,Britton D Zuccarelli,Stuart A. Cook,Jenny C. Taylor,Jane Juusola,Kyle Retterer,Helen V. Firth,Helen V. Firth,Matthew E. Hurles,Enrique Lara-Pezzi,Paul J.R. Barton,Nicola Whiffin,Nicola Whiffin,Nicola Whiffin +37 more
TL;DR: In this paper, the authors identify four single nucleotide variants and two copy number variants upstream of MEF2C that cause DD through three distinct loss-of-function mechanisms, disrupting transcription, translation, and/or protein function.