Dennis Bartholomew

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

Michael E. Talkowski, Sureni V. Mullegama, Jill A. Rosenfeld et al. · The American Journal of Human Genetics · 2011 · 246 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities

Blake C. Ballif, Aaron Theisen, Jill A. Rosenfeld et al. · The American Journal of Human Genetics · 2010 · 169 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Adriana M. Montaño, Robert D. Steiner, Brett H. Graham et al. · Journal of Medical Genetics · 2016 · 165 citations · Full text

Life Sciences, Genetics, Pediatrics +13

Prospective treatment of urea cycle disorders

Nancy E. Maestri, Elizabeth R. Hauser, Dennis Bartholomew et al. · The Journal of Pediatrics · 1991 · 144 citations · Full text

Medicine, Pediatrics, Developmental Pediatrics +15

Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

Seema R. Lalani, Jing Zhang, Christian P. Schaaf et al. · The American Journal of Human Genetics · 2014 · 111 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12