Laura Trujillano

发表

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes

B. Puisac, M. Arnedo, P. Gómez-Puertas, 2020, International journal of molecular sciences.

An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history

O. Díez, E. Tizzano, M. Codina-Solà, 2022, European Journal of Human Genetics.

Natural history of KBG syndrome in a large European cohort

N. Brunetti‐Pierri, F. Santorelli, T. Reimand, 2022, Human molecular genetics.

High rate of autonomic neuropathy in Cornelia de Lange Syndrome

B. Puisac, M. Arnedo, J. Pié, 2021, Orphanet Journal of Rare Diseases.

Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature

B. Sadikovic, M. Alders, P. Henneman, 2023, International journal of molecular sciences.

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

B. Puisac, M. Arnedo, P. Gómez-Puertas, 2021, Scientific Reports.

Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder

B. Puisac, M. Arnedo, J. Pié, 2023, Journal of clinical medicine.

Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome

B. Puisac, M. Arnedo, J. Pié, 2022, The International Journal of Cardiovascular Imaging.

Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.

Tzung-Chien Hsieh, K. Chrzanowska, C. Philippe, 2023, Human genetics.