David Kronn

<i>MeCP2</i> mutations in children with and without the phenotype of Rett syndrome

Kristen C. Hoffbuhr, Joseph M. Devaney, Bonnie LaFleur et al. · Neurology · 2001 · 227 citations

Life Sciences, Genetics, Molecular Genetics +17

Molecular Analysis of the NF2 Tumor-Suppressor Gene in Schwannomatosis

Lee B. Jacoby, Deborah Jones, Kevin Davis et al. · The American Journal of Human Genetics · 1997 · 183 citations · Full text

Medicine, Molecular Biology, Molecular Genetics +14

Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines

Beth Vogel, Sue Bradley, Darius J. Adams et al. · Molecular Genetics and Metabolism · 2015 · 123 citations

Medicine, Endocrinology, Pediatrics +16

Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate

George A. Díaz, Lauren Krivitzky, Masoud Mokhtarani et al. · Hepatology · 2012 · 96 citations · Full text

Life Sciences, Pharmacokinetics, Pharmacology +13

Sustained immune tolerance induction in enzyme replacement therapy–treated CRIM-negative patients with infantile Pompe disease

Zoheb B. Kazi, Ankit K. Desai, Kathryn L. Berrier et al. · JCI Insight · 2017 · 71 citations · Full text

Life Sciences, Immunology, Pharmacology +17