Genomic Diagnostics
Clinical exome sequencing, rare disease evaluation, and genotype-phenotype studies that connect genomic findings with patient care.
Publications
Research Grounded in Genetic Medicine
Published work from Fort Worth Genomics Institute leadership spans clinical genetics, rare disease, neurodevelopment, autism research, and functional genomics.
Research Foundation
Translating Genomic Insight Into Patient Care
The publications below reflect a long-standing focus on using genetic and molecular evidence to better understand complex conditions. Together, this work supports the institute's mission to bring advanced genomic medicine, thoughtful clinical interpretation, and research-informed care to patients and families in Fort Worth.
34Publications and abstracts
2006-2022Published research span
32Linked PubMed or PMC records
Areas of Focus
Research Themes
Neurodevelopment
Research on autism, intellectual disability, Phelan-McDermid syndrome, and neurodevelopmental pathways in the developing brain.
Functional Genomics
Work using molecular, cellular, and data-driven approaches to better understand disease mechanisms and candidate genes.
Selected Work
Featured Publications
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders
View publicationGenotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing
View publicationToward a pathway-driven clinical-molecular framework for classifying autism spectrum disorders
View publicationResearch Archive
Publications
PubMed and PMC links open in a new tab where available.
2020-2022
2022
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders
Human Molecular Genetics
2021
Alterations in respiratory epithelial gene SPDEF segregate with severe disease in a family with variable response to COVID-19 infection
American College of Medical Genetics and Genomics
2021
3-methylglutaconic aciduria in carriers of primary carnitine deficiency
European Journal of Medical Genetics
2020
Neurofibromatosis type 2 in Phelan-McDermid syndrome: institutional experience and review of the literature
European Journal of Medical Genetics
2020
Syndromic autism revisited: review of the literature and lessons learned
Pediatric Neurology
2020
New strategies for clinical trials in autism spectrum disorder
Reviews on Recent Clinical Trials
2020
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing
Pediatric Research
2020
VACTERL with hydrocephalus
Orphanet
2018-2019
2019
X-linked intellectual disability: phenotypic expression in carrier females
Clinical Genetics
2019
Toward a pathway-driven clinical-molecular framework for classifying autism spectrum disorders
Pediatric Neurology
2019
Functional genomics analysis of Phelan-McDermid syndrome 22q13 region during human neurodevelopment
PLOS ONE
2018
Human cerebral organoids reveal deficits in neurogenesis and neuronal migration in MeCP2-deficient neural progenitors
Molecular Psychiatry
2018
MeCP2-regulated miRNAs control early human neurogenesis through differential effects on ERK and AKT signaling
Molecular Psychiatry
2018
A pineal region H3-K27M diffuse midline glioma
Images in Neurosurgery, Congress of Neurological Surgeons Quarterly
2015-2017
2017
Editorial: Non-coding RNAs in neurodevelopmental disorders
Frontiers in Neurology
2016
A systematic variant annotation approach for ranking genes associated with autism spectrum disorders
Molecular Autism
2016
Idiopathic autism: cellular and molecular phenotypes in pluripotent stem cell derived-neurons
Molecular Neurobiology
2016
The evolving diagnostic and genetic landscapes of autism spectrum disorder
Frontiers in Genetics
2016
The complex behavioral phenotype of 15q13.3 microdeletion syndrome
Genetics in Medicine
2016
A non-inflammatory role for microglial in autism spectrum disorders
Frontiers in Neurology
2015
Functional genomics of human brain development and implications for autism spectrum disorders
Translational Psychiatry
2015
Shared pathways among autism candidate genes determined by co-expression network analysis of the developing human brain transcriptome
Journal of Molecular Neuroscience
2015
The autistic brain in the context of normal neurodevelopment
Frontiers in Neuroanatomy
2015
Embryonal tumor with multilayered rosettes of the fourth ventricle: case report and review of the literature
Journal of Neurosurgery: Pediatrics
2015
Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation
American Journal of Medical Genetics Part A
2006-2014
2014
Telomerase protects Werner syndrome lineage-specific stem cells from premature aging
Stem Cell Reports
2014
Altered glial marker expression in autistic post-mortem pre-frontal cortex and cerebellum
Molecular Autism
2014
Identification of differentially expressed microRNAs across the developing human brain
Molecular Psychiatry
2013
The cerebellum in autism: pathogenic or anatomic beacon?
Cerebellum
2013
Sex-biased gene expression in the developing brain: implications for autism spectrum disorders
Molecular Autism
2013
Aberrant expression of long non-coding RNAs in autistic brain
Journal of Molecular Neuroscience
2011
Polymorphisms in fibronectin binding protein A of Staphylococcus aureus are associated with infection of cardiovascular devices
Proceedings of the National Academy of Sciences
2011
Expression profiling of autism candidate genes during human brain development implicates central immune signaling pathways
PLOS ONE
2006
Prevalence of CYP2B6 alleles in malaria-endemic populations of West Africa and Papua New Guinea
European Journal of Clinical Pharmacology