Chairman and Professor, Molecular and Human Genetics, Baylor College of Medicine
Pediatrics
Dr. Arthur Beaudet, MD
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Arthur Beaudet practices Pediatrics. He attended Yale University School of Medicine. Yale University School of Medicine is a top medical university. Yale University School of Medicine has a rank of 7 in research and a 57 in primary care He over the years received 3 awards: "Elected Member", "Investigator Alumnus" and "Fellow (FAAP)". Dr. Arthur Beaudet has written publications. He has 22 publications published with PubMed. The lastest publication is: 'Chromosomal microarray analysis, or comparative genomic hybridization: A high throughput approach.'
Publications
- Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.
- Integrative analysis of 111 reference human epigenomes.
- Towards a therapy for Angelman syndrome by targeting a long non-coding RNA.
- Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome.
- Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing.
- Reaching a CNV milestone.
- De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea.
- Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
- Truncation of Ube3a-ATS Unsilences Paternal Ube3a and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model.
- Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
- Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy.
- Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
- Transgene Expression up to 7 Years in Nonhuman Primates Following Hepatic Transduction with Helper-Dependent Adenoviral Vectors.
- NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits.
- TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities.
- Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
- Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
- Incidental copy-number variants identified by routine genome testing in a clinical population.
- Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.
- Epigenetics and Human Disease.
- Chromosomal microarray analysis, or comparative genomic hybridization: A high throughput approach.
Doctors Specialties
- Clinical Biochemical Genetics
- Clinical Genetics
- Clinical Molecular Genetics
- Pediatrics
Accepted Insurances
Awards
- Elected Member
- Investigator Alumnus
- Fellow (FAAP)
Education
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Johns Hopkins University -
Yale University School of Medicine
Hospital
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Texas Children's Hospital -
Baylor St. Luke's Medical Center
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