Publications by authors named "Ruth Eberhardt"

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Exome sequencing of UK birth cohorts.
Mahmoud Koko, Laurie Fabian, Iaroslav Popov, Ruth Y Eberhardt, Gennadii Zakharov

Wellcome Open Res· December 2024

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Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.
V Kartik Chundru, Zhancheng Zhang, Klaudia Walter, Sarah J Lindsay, Petr Danecek, Ruth Y Eberhardt

Nat Genet· October 2024

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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 Kartik Chundru, Helen V Firth

Sci Rep· April 2024

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Detection and characterization of copy-number variants from exome sequencing in the DDD study.
Petr Danecek, Eugene J Gardner, Tomas W Fitzgerald, Giuseppe Gallone, Joanna Kaplanis, Ruth Y Eberhardt

Genet Med Open· January 2024

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Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.
Katie Duckett, Alice Williamson, John W R Kincaid, Kara Rainbow, Laura J Corbin, Ruth Y Eberhardt

J Clin Endocrinol Metab· November 2023

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Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Caroline F Wright, Patrick Campbell, Ruth Y Eberhardt, Stuart Aitken, Daniel Perrett

N Engl J Med· April 2023

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Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study.
Ruth Y Eberhardt, Caroline F Wright, David R FitzPatrick, Matthew E Hurles, Helen V Firth

Genet Med Open· January 2023

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Fetal central nervous system anomalies: When should we offer exome sequencing?
Caitlin Baptiste, Rhiannon Mellis, Vimla Aggarwal, Jenny Lord, Ruth Eberhardt

Prenat Diagn· May 2022

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Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders.
Eugene J Gardner, Alejandro Sifrim, Sarah J Lindsay, Elena Prigmore, Diana Rajan, Ruth Y Eberhardt

Am J Hum Genet· November 2021

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Non-coding region 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, Ruth Y Eberhardt

Am J Hum Genet· June 2021

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Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Caroline F Wright, Ruth Y Eberhardt, Panayiotis Constantinou, Matthew E Hurles, David R FitzPatrick

Genet Med· March 2021

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The contribution of X-linked coding variation to severe developmental disorders.
Hilary C Martin, Eugene J Gardner, Kaitlin E Samocha, Joanna Kaplanis, Nadia Akawi, Ruth Y Eberhardt

Nat Commun· January 2021

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Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Joanna Kaplanis, Kaitlin E Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J Arvai, Ruth Y Eberhardt

Nature· October 2020

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Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
Elizabeth Quinlan-Jones, Jenny Lord, Denise Williams, Sue Hamilton, Tamas Marton, Ruth Y Eberhardt

Genet Med· May 2019

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Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Jenny Lord, Dominic J McMullan, Ruth Y Eberhardt, Gabriele Rinck, Susan J Hamilton

Lancet· February 2019

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The Pfam protein families database: towards a more sustainable future.
Robert D Finn, Penelope Coggill, Ruth Y Eberhardt, Sean R Eddy, Jaina Mistry

Nucleic Acids Res· January 2016

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Rfam: annotating families of non-coding RNA sequences.
Jennifer Daub, Ruth Y Eberhardt, John G Tate, Sarah W Burge

Methods Mol Biol· September 2015

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Rfam 12.0: updates to the RNA families database.
Eric P Nawrocki, Sarah W Burge, Alex Bateman, Jennifer Daub, Ruth Y Eberhardt

Nucleic Acids Res· January 2015

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Structure- and context-based analysis of the GxGYxYP family reveals a new putative class of glycoside hydrolase.
Daniel J Rigden, Ruth Y Eberhardt, Harry J Gilbert, Qingping Xu, Yuanyuan Chang

BMC Bioinformatics· June 2014

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Structural genomics analysis of uncharacterized protein families overrepresented in human gut bacteria identifies a novel glycoside hydrolase.
Anna Sheydina, Ruth Y Eberhardt, Daniel J Rigden, Yuanyuan Chang, Zhanwen Li

BMC Bioinformatics· April 2014

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The first structure in a family of peptidase inhibitors reveals an unusual Ig-like fold.
Daniel J Rigden, Qingping Xu, Yuanyuan Chang, Ruth Y Eberhardt, Robert D Finn

F1000Res· February 2014

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Pfam: the protein families database.
Robert D Finn, Alex Bateman, Jody Clements, Penelope Coggill, Ruth Y Eberhardt

Nucleic Acids Res· January 2014

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New mini- zincin structures provide a minimal scaffold for members of this metallopeptidase superfamily.
Christine B Trame, Yuanyuan Chang, Herbert L Axelrod, Ruth Y Eberhardt, Penelope Coggill

BMC Bioinformatics· January 2014

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Filling out the structural map of the NTF2-like superfamily.
Ruth Y Eberhardt, Yuanyuan Chang, Alex Bateman, Alexey G Murzin, Herbert L Axelrod

BMC Bioinformatics· November 2013

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LUD, a new protein domain associated with lactate utilization.
William C Hwang, Constantina Bakolitsa, Marco Punta, Penelope C Coggill, Alex Bateman, Ruth Y Eberhardt

BMC Bioinformatics· November 2013

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