Bradley Schaefer, MD

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Increasing Telegenetics Providers in the United States. Abstract #275

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Commentary on "Fraternal Twins with Autism, Severe Cognitive Deficit, and Epilepsy: Diagnostic Role of Chromosomal Microarray Analysis by J.Imitola, and colleagues

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Adults Perceptions of Genetic Counseling and Genetic Testing

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Radioulnar Synostosis and Brain Abnormalities in a Patient with 17q21.31 Microdeletion Involving EFTUD2

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Persistent Congenital Hyperinsulinism in Two Patients with Beckwith-Widermann Syndrome due to Mosaic Uniparental Disomy

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Cardiovasular and Genitourinary Anomalies in Patients with Duplications within the Williams Syndrome Critical Region: Phenotypic Expansion and Review of the Literature

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Arkansas Newborn Screening Long-Term Follow-up Cohort Study Year 2.

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A Clinic-Based Interdisciplinary Team Approach for Children Newly Identified as D/HH

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The Role of the Geneticist in the Patient-Centered Medical Home. Abstract #388

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Exome Sequencing Ordering Practices and Outcomes at a Pediatric Institution. Abstract #676

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Partial Loss of USP9X Function Leads to a Name Neurodevelopmental and Behavioral Disorder Converging ton TGFB Signaling

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Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET 3 dificiency

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Epstein-Barr Positive Diffuse Large B-Cell Lymphoma in a Patient with Dubowitz Syndrome and Severe NK Cell Deficency

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The Ubiquitin Ligase UBE3B Regulates Metabolic Pathways by Targeting BCKDH Kinase

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Mosaic Chromosome 5p tetrasomy: Visual- Sensitive Seizures in a Rare Neurocutaneous syndrome

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Denovo Genetic Variants of NR4A2 are Associated with Early-onset Epilepsy and Developmental Delay

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Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene

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The Neurologic Aspects Related to POGZ Mutation: Case Report and Review of CNS Malformations and Epilepsy

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Constitutive activation of the P13K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome adn Trp566ARG PDGFRB variant

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Some Audiologic Characteristics in Individuals with Sotos Syndrome

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Multimodal imaging of an RPGR carrier female

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Epistein-Barr Positive Diffuse Large B-cell Lymphoma in a Patient with Dubowitz Syndrome and Severe NK Cell Deficiency

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De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

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Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

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NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

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Arkansas physicians learning gaps in pharmacogenetics

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Implementing Pharmacogenetic Testing: SIngle Center Experience at Arkansas Children's Hospital

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NSD1 Mutations Deregulate Transcriptions and DNA Methylation of Polycomb Target Developmental Genes in Sotos Syndrome

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Hearing Thresholds in OTOF-Associated Auditory Neuropathy Spectrum Disorders in Genotype Dependent: A Multinational Study