Sharon F. Suchy

发表论文 66 篇 · 总被引 3600 次 · h-index 25

代表论文

• Clinical application of whole-exome sequencing across clinical indications (2015 · Genetics in Medicine · 被引 1098)
• Dent Disease with Mutations in OCRL1 (2005 · The American Journal of Human Genetics · 被引 340)
• Phosphoinositide profiling in complex lipid mixtures using electrospray ionization mass spectrometry (2003 · Nature Biotechnology · 被引 274)
• Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice. (1998 · Journal of Clinical Investigation · 被引 186)
• The Deficiency of PIP2 5-Phosphatase in Lowe Syndrome Affects Actin Polymerization (2002 · The American Journal of Human Genetics · 被引 159)
• Alpha synuclein is present in Lewy bodies in sporadic Parkinson's disease (1998 · Molecular Psychiatry · 被引 138)