Beatriz Puisac

9PUBLICATIONS
45CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Infant and child healthMetabolic medicineGene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseases
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Publications (9)

|Mar 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

Ilaria Parenti, Alina Hesters, Marta Gil-Salvador

|Feb 27, 2026
Assessing Quality of Life in PACS1 Syndrome Using the KidsLife Scale from Mothers' and Fathers' Perspectives.

Julia Del Rincón, Laura Trujillano, Cristina Lucia-Campos

|Sep 13, 2025
Ligand-Enzyme Interaction Modeling of Missense Variants Implicated in Mitochondrial HMG-CoA Synthase Deficiency.

María Arnedo, David Ros-Pardo, Beatriz Puisac

|Aug 28, 2025
AI-Based Facial Phenotyping Supports a Shared Molecular Axis in PACS1-, PACS2-, and WDR37-Related Syndromes.

Julia Del Rincón, Marta Gil-Salvador, Cristina Lucia-Campos

|Jun 28, 2023
Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder.

Ana Latorre-Pellicer, Laura Trujillano, Julia Del Rincón

|Dec 09, 2022
Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome

Ángela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac

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Frequent Collaborators

7 joint publications

Ana Latorre-Pellicer

7 joint publications

Feliciano J Ramos

6 joint publications

Juan Pié Juste

6 joint publications

Marta Gil-Salvador