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Pilar Cacheiro

13PUBLICATIONS

105CO-AUTHORS

Characterisation of biological macromoleculesGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Liquid biopsiesSoftware testing, verification and validation

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Publications (13)

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|Dec 19, 2025

Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay.

Søren H Hough, Satpal S Jhujh, Samah W Awwad

|Apr 16, 2025

The spectrum of gene intolerance to variation: Insights from a rare disease cohort.

Pilar Cacheiro, Gabriel Marengo, David U Gorkin

|Mar 17, 2025

GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.

Lauren Rekerle, Daniel Danis, Filip Rehburg

|Jan 17, 2025

IMPC impact on preclinical mouse models.

Sabine M Hölter, Pilar Cacheiro, Damian Smedley

|Jun 17, 2024

Computational identification of disease models through cross-species phenotype comparison.

Pilar Cacheiro, Diego Pava, Helen Parkinson

|Jun 10, 2024

A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery.

Daniel Danis, Michael J Bamshad, Yasemin Bridges

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Frequent Collaborators

9 joint publications

Damian Smedley

4 joint publications

Peter N Robinson

3 joint publications

Julius O B Jacobsen

3 joint publications

Melissa A Haendel

3 joint publications

Michael H Duyzend

3 joint publications

David Zocche

2 joint publications

Violeta Muñoz-Fuentes

2 joint publications

Martin Hrabě de Angelis

2 joint publications

Kevin A Peterson

2 joint publications

Valerie Gailus-Durner

Frequent Collaborators

9 joint publications

Damian Smedley

4 joint publications

Peter N Robinson

3 joint publications

Julius O B Jacobsen

3 joint publications

Melissa A Haendel

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