Pilar Cacheiro
13PUBLICATIONS
105CO-AUTHORS
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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
|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
|Jan 23, 2024
Lethal phenotypes in Mendelian disorders.Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver
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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
