Author
Hospital Universitari i Politècnic La FeORCID 0000-0003-3780-2077Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Aleš Hnı́zda, Beatriz Martínez–Delgado, Diana Sánchez-Ponce…·Lenka Nosková
The paper identifies de novo EHMT2 variants causing an autosomal dominant Kleefstra syndrome by impairing G9a methyltransferase activity, mimicking EHMT1 haploinsufficiency.
Karen Jaqueline Low, Julia Foreman, Rachel J. Hobson…·Tim James Cole
The paper introduces the LMSz method to construct gene-specific growth charts for rare disorders using z-scores, showing gene-specific centiles and trends in anthropometric data.
Nataliya Di Donato, Andrew Thom, Andreas Rump…·Siddharth Banka
The paper analyzes clinical and mechanistic data from individuals with ACTB/ACTG1 variants to identify distinct disease phenotypes and molecular mechanisms of non-muscle actinopathies.
Beatriz Martínez–Delgado, Estrella López Martín, Jennifer Kerkhof…·María J. Barrero
The paper identifies a de novo EHMT2 mutation causing a Kleefstra-like syndrome by reducing enzyme activity and altering epigenetic profiles.
Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel…·Peter Michael Krawitz
The paper introduces an AI-driven method that uses facial images to prioritize exome data, achieving 99% top-10 accuracy in identifying disease-causing genes.