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DB

Dennis Bartholomew

Medical Genetics / Clinical Genetics (M.D.)

Credentials: · ·

History

Feinberg School of Medicine
1976–1980

Research

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease
Neurology · 2007 · 620 citations
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder
The American Journal of Human Genetics · 2011 · 169 citations
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype…
Human Mutation · 2015 · 146 citations

Matthew Pastore
10 papers
Wendy Smith
6 papers
Annette Feigenbaum
5 papers
Brendan Lee
5 papers
CH
Cary Harding
5 papers
GD
George Diaz
5 papers
Lawrence Merritt
5 papers
Nicola Longo
5 papers
Renata Gallagher
5 papers
RZ
Roberto Zori
5 papers
Shawn McCandless
5 papers
Susan Berry
5 papers