Dennis W. Bartholomew

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes et al. · Human Mutation · 2015 · 190 citations · Full text

Medicine, Dermatology, Genetics +17

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

Alma Kuechler, Marjolein H. Willemsen, Beate Albrecht et al. · Human Genetics · 2014 · 128 citations

Life Sciences, Genetics, Molecular Genetics +14

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

Marialetizia Motta, Luca Pannone, Francesca Pantaleoni et al. · The American Journal of Human Genetics · 2020 · 95 citations · Full text

Medicine, Molecular Genetics, Neuroscience +16

Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria

Dennis W. Bartholomew, Mark L. Batshaw, Robert H. Allen et al. · The Journal of Pediatrics · 1988 · 81 citations

Public Health, Biochemistry, Pharmacotherapy +13

SRD5A3‐CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features

Patricia G. Wheeler, Bobby G. Ng, Laura Sanford et al. · American Journal of Medical Genetics Part A · 2016 · 34 citations · Full text

Medicine, Genetics, Molecular Genetics +17