John J. Mitchell

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Jerry Vockley, Hans C. Andersson, Kevin M. Antshel et al. · Genetics in Medicine · 2014 · 722 citations · Full text

Medicine, Endocrinology, Pediatrics +9

Rfx6 directs islet formation and insulin production in mice and humans

Stuart B. Smith, Hui‐Qi Qu, Nadine Taleb et al. · Nature · 2010 · 363 citations · Full text

Life Sciences, Endocrinology, Physiology +14

Phenylketonuria Scientific Review Conference: State of the science and future research needs

Kathryn Camp, Melissa A. Parisi, Phyllis B. Acosta et al. · Molecular Genetics and Metabolism · 2014 · 269 citations

Medicine, Biochemistry, Molecular Medicine +8

Insulin-induced insulin receptor substrate-1 degradation is mediated by the proteasome degradation pathway.

Xiao‐Jian Sun, Jonathan Goldberg, Li‐Ya Qiao et al. · Diabetes · 1999 · 220 citations

Life Sciences, Biochemistry, Molecular Biology +17

<i>CRTAP</i>and<i>LEPRE1</i>mutations in recessive osteogenesis imperfecta

Dustin Baldridge, Ulrike Schwarze, Roy Morello et al. · Human Mutation · 2008 · 209 citations · Full text

Medicine, Genetics, Molecular Genetics +17