Area of research
Genetics · Molecular Biology
Research interest
Research interests include Muscle Physiology and Disorders, Neurogenetic and Muscular Disorders Research, Genetics and Neurodevelopmental Disorders, and Autism Spectrum Disorder Research.
Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights
Rapid genotype imputation from sequence with reference panels
Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <scp><i>ASXL3</i></scp>
Palliative care services in families of males with muscular dystrophy: Data from MD STARnet
Health supervision for people with Bloom syndrome
Behavioral problems in children with autism spectrum disorder with and without co-occurring intellectual disability
Diagnostic Accuracy of Phenotype Classification in Duchenne and Becker Muscular Dystrophy Using Medical Record Data1
Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders
Expansion and further delineation of the <i>SETD5</i> phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance
Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition
DSM Criteria that Best Differentiate Intellectual Disability from Autism Spectrum Disorder
Respiratory Care Received by Individuals With Duchenne Muscular Dystrophy From 2000 to 2011
Brief Report: The Prevalence of Neurofibromatosis Type 1 among Children with Autism Spectrum Disorder Identified by the Autism and Developmental Disabilities Monitoring Network
Prevalence of Duchenne and Becker Muscular Dystrophies in the United States
Fetal alcohol syndrome among children aged 7-9 years - Arizona, Colorado, and New York, 2010.
PubMed Central 2015cited by 48position: middle
Potential Impact of<i>DSM-5</i>Criteria on Autism Spectrum Disorder Prevalence Estimates
Diagnostic and clinical characteristics of early‐manifesting females with Duchenne or Becker muscular dystrophy
Oral Corticosteroids and Onset of Cardiomyopathy in Duchenne Muscular Dystrophy
Frequency and Pattern of Documented Diagnostic Features and the Age of Autism Identification
Prevalence of Autism Spectrum Disorders in Hispanic and Non-Hispanic White Children
A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome
Maternal Smoking during Pregnancy and the Prevalence of Autism Spectrum Disorders, Using Data from the Autism and Developmental Disabilities Monitoring Network
Beyond Gómez‐López‐Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis