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Eberhardt, Ruth Y
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1

Detection and characterization of copy-number variants from..:

Danecek, Petr ; Gardner, Eugene J. ; Fitzgerald, Tomas W....
Genetics in Medicine Open.  2 (2024)  - p. 101818 , 2024
Link: https://doi.org/10.1016/..
 
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2

Investigating the role of common cis-regulatory variants in..:

Wigdor, Emilie M. ; Samocha, Kaitlin E. ; Eberhardt, Ruth Y....
Scientific Reports.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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3

Exome sequencing of UK birth cohorts:

Koko, Mahmoud ; Fabian, Laurie ; Popov, Iaroslav...
Wellcome Open Research.  9 (2024)  - p. 390 , 2024
Link: https://doi.org/10.12688..
 
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4

Detection of mosaic chromosomal alterations in children wit..:

Eberhardt, Ruth Y. ; Wright, Caroline F. ; FitzPatrick, David R...
Genetics in Medicine Open.  1 (2023)  1 - p. 100836 , 2023
Link: https://doi.org/10.1016/..
 
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5

Prevalence of Deleterious Variants in MC3R in Patients With..:

Duckett, Katie ; Williamson, Alice ; Kincaid, John W R...
The Journal of Clinical Endocrinology & Metabolism.  108 (2023)  12 - p. e1580-e1587 , 2023
Link: https://doi.org/10.1210/..
 
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6

The contribution of X-linked coding variation to severe dev..:

Martin, Hilary C. ; Gardner, Eugene J. ; Samocha, Kaitlin E....
Nature Communications.  12 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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7

Evaluating variants classified as pathogenic in ClinVar in ..:

Wright, Caroline F. ; Eberhardt, Ruth Y. ; Constantinou, Panayiotis...
Genetics in Medicine.  23 (2021)  3 - p. 571-575 , 2021
Link: https://doi.org/10.1038/..
 
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8

Detecting cryptic clinically relevant structural variation ..:

Gardner, Eugene J. ; Sifrim, Alejandro ; Lindsay, Sarah J....
The American Journal of Human Genetics.  108 (2021)  11 - p. 2186-2194 , 2021
Link: https://doi.org/10.1016/..
 
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9

Non-coding region variants upstream of MEF2C cause severe d..:

Wright, Caroline F. ; Quaife, Nicholas M. ; Ramos-Hernández, Laura...
The American Journal of Human Genetics.  108 (2021)  6 - p. 1083-1094 , 2021
Link: https://doi.org/10.1016/..
 
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10

Evidence for 28 genetic disorders discovered by combining h..:

Kaplanis, Joanna ; Samocha, Kaitlin E. ; Wiel, Laurens...
Nature.  586 (2020)  7831 - p. 757-762 , 2020
Link: https://doi.org/10.1038/..
 
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11

Molecular autopsy by trio exome sequencing (ES) and postmor..:

Quinlan-Jones, Elizabeth ; Lord, Jenny ; Williams, Denise...
Genetics in Medicine.  21 (2019)  5 - p. 1065-1073 , 2019
Link: https://doi.org/10.1038/..
 
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12

Prenatal exome sequencing analysis in fetal structural anom..:

Lord, Jenny ; McMullan, Dominic J ; Eberhardt, Ruth Y...
The Lancet.  393 (2019)  10173 - p. 747-757 , 2019
Link: https://doi.org/10.1016/..
 
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13

The Pfam protein families database: towards a more sustaina..:

Finn, Robert D. ; Coggill, Penelope ; Eberhardt, Ruth Y....
Nucleic Acids Research.  44 (2015)  D1 - p. D279-D285 , 2015
Link: https://doi.org/10.1093/..
 
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14

Structure- and context-based analysis of the GxGYxYP family..:

Rigden, Daniel J ; Eberhardt, Ruth Y ; Gilbert, Harry J...
BMC Bioinformatics.  15 (2014)  1 - p. , 2014
Link: https://doi.org/10.1186/..
 
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15

New mini- zincin structures provide a minimal scaffold for ..:

Trame, Christine B ; Chang, Yuanyuan ; Axelrod, Herbert L...
BMC Bioinformatics.  15 (2014)  1 - p. , 2014
Link: https://doi.org/10.1186/..
 
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