R. Y. Eberhardt

发表

The Pfam protein families database

L. Holm, S. Eddy, E. Sonnhammer, 2011, Nucleic Acids Res..

The Pfam protein families database: towards a more sustainable future

Robert D. Finn, Sean R. Eddy, Marco Punta, 2015, Nucleic Acids Res..

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

New mini- zincin structures provide a minimal scaffold for members of this metallopeptidase superfamily

P. Coggill, N. Rawlings, M. Punta, 2014, BMC Bioinformatics.

The EMBL Nucleotide Sequence Database

Vincent Lombard, Rolf Apweiler, Peter Stoehr, 2004, Nucleic Acids Res..

Ongoing and future developments at the Universal Protein Resource

María Martín, Peter B. McGarvey, Y Wang, 2010, Nucleic Acids Res..

Priorities for nucleotide trace, sequence and annotation data capture at the Ensembl Trace Archive and the EMBL Nucleotide Sequence Database

Dan Wu, Rolf Apweiler, Rodrigo Lopez, 2007, Nucleic Acids Res..

The UniProt-GO Annotation database in 2011

Rachael P. Huntley, Emily Dimmer, Yasmin Alam-Faruque, 2011, Nucleic Acids Res..

Rfam 12.0: updates to the RNA families database

Robert D. Finn, Sean R. Eddy, Alex Bateman, 2014, Nucleic Acids Res..

Rfam 11.0: 10 years of RNA families

Sean R. Eddy, Alex Bateman, Ruth Y. Eberhardt, 2012, Nucleic Acids Res..

Optimising diagnostic yield in highly penetrant genomic disease

M. Hurles, P. Danecek, K. Samocha, 2022, medRxiv.

The Gene Ontology in 2010: extensions and refinements

Giorgio Valle, Juancarlos Chan, Paul W. Sternberg, 2009, Nucleic Acids Res..

Filling out the structural map of the NTF2-like superfamily

Alex Bateman, Alexey G. Murzin, Ruth Y. Eberhardt, 2013, BMC Bioinformatics.

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Jay F Rowland, M. Hurles, Soo-Mi Park, 2019, The Lancet.

EMBL Nucleotide Sequence Database in 2006

Dan Wu, Vincent Lombard, Rolf Apweiler, 2006, Nucleic Acids Res..

The challenge of increasing Pfam coverage of the human proteome

R. Finn, Jaina Mistry, P. Coggill, 2013, Database: The Journal of Biological Databases and Curation.

The challenge of increasing Pfam coverage of the human proteome

Robert D. Finn, Alex Bateman, Marco Punta, 2013, Database J. Biol. Databases Curation.

Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

M. Hurles, K. Karczewski, P. Danecek, 2020, medRxiv.

Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders

Patrick J. Short, M. Hurles, L. Vissers, 2019, bioRxiv.

Structural genomics analysis of uncharacterized protein families overrepresented in human gut bacteria identifies a novel glycoside hydrolase

Christian M. Zmasek, Daniel J. Rigden, Ruth Y. Eberhardt, 2014, BMC Bioinformatics.

Characterization of a cellulosome dockerin domain from the anaerobic fungus Piromyces equi

Ruth Y. Eberhardt, Harry J. Gilbert, Michael P. Williamson, 2001, Nature Structural Biology.

Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies

M. Hurles, M. Kilby, E. Prigmore, 2018, Genetics in Medicine.

Integrating healthcare and research genetic data empowers the discovery of 28 novel 1 developmental disorders 2 3

Patrick J. Short, M. Hurles, L. Vissers, 2020 .

Fetal hydrops and the Incremental yield of Next‐generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta‐analysis

M. Hurles, M. Kilby, T. Sparks, 2021, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

The first structure in a family of peptidase inhibitors reveals an unusual Ig-like fold

R. Finn, N. Rawlings, D. Rigden, 2013, F1000Research.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Exome sequencing of UK birth cohorts

M. Hurles, P. Danecek, E. Fitzsimons, 2024, Wellcome Open Research.

Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study

M. Hurles, D. Fitzpatrick, C. Wright, 2022, medRxiv.

Federated analysis of the contribution of recessive coding variants to 29,745 developmental disorder patients from diverse populations

Klaudia Walter, M. Hurles, P. Danecek, 2023, medRxiv.

Structure- and context-based analysis of the GxGYxYP family reveals a new putative class of Glycoside Hydrolase

Daniel J. Rigden, Ruth Y. Eberhardt, Yuanyuan Chang, 2014, BMC Bioinformatics.

Rfam: annotating families of non-coding RNA sequences.

Sarah W Burge, Sarah W. Burge, Jennifer Daub, 2015, Methods in molecular biology.

AntiFam: a tool to help identify spurious ORFs in protein annotation

Marco Punta, Maria Jesus Martin, Claire O'Donovan, 2012, Database J. Biol. Databases Curation.

Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

M. Hurles, D. Goldstein, M. Kilby, 2021, BJOG : an international journal of obstetrics and gynaecology.