Carlos Bacino
Chief, Genetics Service, Vice Chair Clinical Affairs, Department of Molecular and Human Genetics · Baylor College of Medicine
Credentials: · · · · · · · ·
History
- Present
Genetics Service Division · Baylor College of Medicine
- Present
Baylor Genetics Cytogenetics Laboratory · Baylor College of Medicine
- Present
Department of Molecular and Human Genetics · Baylor College of Medicine
1993–1994- 1989–1991
- 1981
Fac. De Ciencias Med., U. De Buenos Aires
Research
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
Nature Genetics · 2012 · 799 citations
Nature Genetics · 2008 · 459 citations
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
Systematic review or meta-analysis · The American Journal of Human Genetics · 2017 · 382 citations
James Lupski
38 papers
38 papers · 2 as a fellow
30 papers
29 papers
22 papers
19 papers · 5 as a resident
17 papers
16 papers · 1 as a fellow
Grants
- 2014–2028
Identification of Epigenetic Etiologies for Rare Undiagnosed Disorders
National Institute of Neurological Disorders and Stroke · U01
PI · $3.8M · Baylor College of Medicine
- 2014–2023
BCM Clinical Site for an Undiagnosed Disease Network (UDN) Phase II (U01)
National Human Genome Research Institute · U01
PI · $6.3M · Baylor College of Medicine
- 2007–2011
General Clinical Research Center
National Center for Research Resources · M01
Project lead · $68.5K · Baylor College of Medicine
Clinical trials
- 2011–2015
A Trial of Levodopa in Angelman Syndrome
Principal investigator · Completed · Phase 2, Phase 3
Wen-Hann Tan
- 2006–2010
Dietary Supplements for the Treatment of Angelman Syndrome
Principal investigator · Completed
University of California, San Diego
- 2006–2014
Honors
FACMG