Arthur Beaudet
Henry and Emma Meyer Chair and Professor · Baylor College of Medicine
Credentials: · ·
History
- Present
Medical Genetics
Pediatrics
Research
Integrative analysis of 111 reference human epigenomes
Nature · 2015 · 4,855 citations
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
Nature Genetics · 1993 · 1,526 citations
Clinical whole-exome sequencing for the diagnosis of mendelian disorders
New England Journal of Medicine · 2013 · 1,524 citations
James Lupski
45 papers
30 papers
- CE
25 papers
22 papers
18 papers · 10 as a resident
- CS
16 papers · 5 as a resident
14 papers
14 papers
Grants
- 2011–2021
The BCM Knockout Mouse Production and Phenotyping Project (BCM KOMP2)
National Human Genome Research Institute · UM1
Contact PI · $18.5M · Baylor College of Medicine
- 2020
Baylor Intellectual and Developmental Disabilities Research Centers
National Institute of Child Health and Human Development · U54
Project lead · $1.3M · Baylor College of Medicine
- 2011–2017
CRSPR II Supplement: Consortium for the Production and Cryopreservation of Knockout Mice
NIH Office of the Director · U42
Contact PI · $13.5M · Baylor College of Medicine
- 1999–2016
Human Neurobehavioral Phenotypes Associates with the Extended PWS/AS Domain
National Institute of Child Health and Human Development · R01
Contact PI · $9M · Baylor College of Medicine
Clinical trials
- 2022–2024
- 2020–2021
Cell- Based Noninvasive Prenatal Testing (NIPT): Single Cell Prenatal Diagnosis (SCPD)
Principal investigator · Completed
Luna Genetics
- 2006–2010
Dietary Supplements for the Treatment of Angelman Syndrome
Principal investigator · Completed
University of California, San Diego
- 2006–2014
Characteristics of Prader-Willi Syndrome and Early-onset Morbid Obesity
Study chair · Completed
University of Florida