Luis Rohena
Brooke Army Medical Center(US)San Antonio Military Medical Center(US)The University of Texas Health Science Center at San Antonio(US)Wilford Hall Medical Center(US)The University of Texas Health Science Center at Houston(US)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Congenital heart defects research, Autism Spectrum Disorder Research
Most-Cited Works
- → De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome(2016)112 cited
- → FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants(2017)109 cited
- → Mutations in ARID2 are associated with intellectual disabilities(2015)80 cited
- → A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation(2018)71 cited
- → Mutation inSNAP25as a novel genetic cause of epilepsy and intellectual disability(2013)69 cited
- → De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females(2016)68 cited