Alberto Plaja
Barcelona, CT, Spain
Last Updated: 09/26/2026
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Found 20 publications
Incidental Findings Identified by Prenatal Microarray Analysis and Consensus Reporting Criteria of the Catalan Public Health Network XIGENICS.
Journal: Prenatal diagnosis
Published: August 24, 2024
Case Report: Androgenetic/biparental chimera with two biparental cell lines leading to placental mesenchymal dysplasia: a possible novel mechanism of formation.
Journal: Human reproduction (Oxford, England)
Published: July 25, 2024
Performance of Massive Parallel Sequencing-Based Cell-Free DNA Testing in Compromised Pregnancies.
Journal: Journal of clinical medicine
Published: May 09, 2024
ZDHHC15 as a candidate gene for autism spectrum disorder.
Journal: American journal of medical genetics. Part A
Published: August 26, 2022
A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome.
Journal: Genes
Published: July 18, 2022
16q12.2q21 deletion: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency.
Journal: Parkinsonism & related disorders
Published: June 05, 2022
Genomic Chaos (Multiple Copy Number Variations and Structural Reorganization) Detected in Two Prenatal Cases.
Journal: Cytogenetic and genome research
Published: September 16, 2020
Chromosomal microarray analysis in fetuses with central nervous system anomalies: An 8-year long observational study from a tertiary care university hospital.
Journal: Prenatal diagnosis
Published: June 30, 2020
Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Journal: Clinical genetics
Published: October 24, 2019
LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.
Journal: Frontiers in immunology
Published: August 07, 2018
Novel Double Factor PGT strategy analyzing blastocyst stage embryos in a single NGS procedure.
Journal: PloS one
Published: March 23, 2018
TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.
Journal: Clinical immunology (Orlando, Fla.)
Published: February 19, 2018
Last Updated: 09/26/2026