Irene Valenzuela
Barcelona, CT, Spain
Last Updated: 09/26/2026
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Found 82 publications
Author Correction: The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.
Journal: Nature communications
Published: February 02, 2026
Integrative epigenetic and transcriptomic profiling of whole blood and fibroblasts in Hao-Fountain syndrome.
Journal: Frontiers in cell and developmental biology
Published: January 07, 2026
Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 06, 2025
Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Journal: The Journal of clinical investigation
Published: November 03, 2025
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Journal: American journal of human genetics
Published: October 19, 2025
Placental insufficiency markers to assess the risk of non-chromosomal genetic conditions in early-onset fetal growth restriction.
Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Published: October 06, 2025
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.
Journal: European journal of human genetics : EJHG
Published: September 19, 2025
Generation of two human induced pluripotent stem cell lines (iPSC) from patients with Hao-Fountain Syndrome.
Journal: Stem cell research
Published: September 15, 2025
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM.
Journal: Annals of clinical and translational neurology
Published: September 10, 2025
Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B -Related Marbach-Schaaf Neurodevelopmental Syndrome: A Case Series.
Journal: Clinical genetics
Published: August 27, 2025
De novo talin-1 variant L353F connects multifaceted clinical symptoms to alterations in talin-1 function.
Journal: The Biochemical journal
Published: March 29, 2025
Last Updated: 09/26/2026