Ruth Y Eberhardt

4PUBLICATIONS
41CO-AUTHORS
NeurogeneticsMolecular targetsGene expression (incl. microarray and other genome-wide approaches)Developmental genetics (incl. sex determination)
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Publications (4)

|Sep 23, 2024
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.

V Kartik Chundru, Zhancheng Zhang, Klaudia Walter

|Jun 20, 2023
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.

Katie Duckett, Alice Williamson, John W R Kincaid

|Jan 28, 2021
The contribution of X-linked coding variation to severe developmental disorders.

Hilary C Martin, Eugene J Gardner, Kaitlin E Samocha

|Oct 15, 2020
Evidence for 28 genetic disorders discovered by combining healthcare and research data.

Joanna Kaplanis, Kaitlin E Samocha, Laurens Wiel

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Frequent Collaborators

4 joint publications

Matthew E Hurles

3 joint publications

Kaitlin E Samocha

3 joint publications

Eugene J Gardner

3 joint publications

Hilary C Martin