Area of research
Genetics · Pathology and Forensic Medicine
Research interest
Research interests include Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genetic factors in colorectal cancer, and Renal and related cancers.
The impact of clinical genome sequencing in a global population with suspected rare genetic disease
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development
Gain-of-function and loss-of-function variants in <i>GRIA3</i> lead to distinct neurodevelopmental phenotypes
Randomized Clinical Trial of<scp>First‐Line</scp>Genome Sequencing in Pediatric White Matter Disorders
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region