Sharon F. Suchy

Clinical application of whole-exome sequencing across clinical indications

Kyle Retterer, Jane Juusola, Megan T. Cho et al. · Genetics in Medicine · 2015 · 1.1K citations · Full text

Life Sciences, Genetics, Molecular Medicine +14

Dent Disease with Mutations in OCRL1

R R Hoopes, Antony E. Shrimpton, Stephen J. Knohl et al. · The American Journal of Human Genetics · 2005 · 333 citations · Full text

Dentistry, Oral Biology, Oral Diagnosis +1

Phosphoinositide profiling in complex lipid mixtures using electrospray ionization mass spectrometry

Markus R. Wenk, Louise Lucast, Gilbert Di Paolo et al. · Nature Biotechnology · 2003 · 267 citations

Life Sciences, Biochemistry, Molecular Biology +14

Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.

Pasi A. Jänne, Sharon F. Suchy, David J. Bernard et al. · Journal of Clinical Investigation · 1998 · 184 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

The Deficiency of PIP2 5-Phosphatase in Lowe Syndrome Affects Actin Polymerization

Sharon F. Suchy, Robert L. Nussbaum · The American Journal of Human Genetics · 2002 · 155 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +13