Philip D. Cotter

A Transcript Map of the Newly Defined 165 kb Wolf-Hirschhorn Syndrome Critical Region

Tracy J. Wright, Darrell Ricke, Karen Denison et al. · Human Molecular Genetics · 1997 · 237 citations · Full text

<i>HRAS</i> mutations in Costello syndrome: Detection of constitutional activating mutations in codon 12 and 13 and loss of wild‐type allele in malignancy

Anne L. Estep, William E. Tidyman, Michael A. Teitell et al. · American Journal of Medical Genetics Part A · 2005 · 177 citations · Full text

Regulation of IL-1β–induced NF-κB by hydroxylases links key hypoxic and inflammatory signaling pathways

Carsten C. Scholz, Miguel Cavadas, Murtaza M. Tambuwala et al. · Proceedings of the National Academy of Sciences · 2013 · 174 citations · Full text

Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.

Philip D. Cotter, Marc Baumann, David F. Bishop · Proceedings of the National Academy of Sciences · 1992 · 162 citations · Full text

Genetics, Molecular Biology, Amino Acid Substitution +18

Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.

Philip D. Cotter, Alison May, Edward J. Fitzsimons et al. · Journal of Clinical Investigation · 1995 · 106 citations · Full text