Luis O. Rohena

Medical Genetics | Pediatrics

3551 Roger Brooke Dr
Fort Sam Houston, TX 78234

Last Updated: 09/26/2026

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Found 42 publications

Estimating the Causal Effect of Alcohol Consumption on Military-Relevant Mental Health Conditions: A Mendelian Randomization Study Using the All of Us Research Program.

Estimating the Causal Effect of Alcohol Consumption on Military-Relevant Mental Health Conditions: A Mendelian Randomization Study Using the All of Us Research Program.

Journal: Military medicine

Published: August 07, 2026

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Journal: ArXiv

Published: February 24, 2025

Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes.

Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes.

Journal: European journal of human genetics : EJHG

Published: January 17, 2024

Expanding the phenotype of Harel-Yoon syndrome: A case report suggesting a genotype/phenotype correlation.

Expanding the phenotype of Harel-Yoon syndrome: A case report suggesting a genotype/phenotype correlation.

Journal: American journal of medical genetics. Part A

Published: November 09, 2023

De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.

De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.

Journal: American journal of medical genetics. Part A

Published: March 12, 2023

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Journal: Molecular psychiatry

Published: April 05, 2022

Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding.

Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding.

Journal: Case reports in genetics

Published: February 03, 2022

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

Journal: American journal of medical genetics. Part A

Published: September 28, 2020

Case 3: Premature Infant with Bilateral Choanal Atresia and Esophageal Atresia/Tracheoesophageal Fistula.

Case 3: Premature Infant with Bilateral Choanal Atresia and Esophageal Atresia/Tracheoesophageal Fistula.

Journal: NeoReviews

Published: August 02, 2020

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Journal: Brain : a journal of neurology

Published: May 15, 2020

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 13, 2020

A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance.

A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance.

Journal: Clinical case reports

Published: January 22, 2020

Showing 1-12 of 42

Last Updated: 09/26/2026