Patrick A. Lundquist

Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance of<i>PTC1</i>-like domains in<i>NPC1</i>

Walter D. Park, John F. O’Brien, Patrick A. Lundquist et al. · Human Mutation · 2003 · 216 citations

Medicine, Genetics, Molecular Genetics +16

Niemann-Pick C Variant Detection by Altered Sphingolipid Trafficking and Correlation with Mutations within a Specific Domain of NPC1

Xiaofeng Sun, David L. Marks, Walter D. Park et al. · The American Journal of Human Genetics · 2001 · 148 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome

Mark Consugar, Wai C. Wong, Patrick A. Lundquist et al. · Kidney International · 2008 · 140 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Comprehensive Mutation Screening in 55 Probands with Type 1 Primary Hyperoxaluria Shows Feasibility of a Gene-Based Diagnosis

Carla G. Monico, Sandro Rossetti, Heidi A. Schwanz et al. · Journal of the American Society of Nephrology · 2007 · 65 citations

Life Sciences, Genetics, Molecular Genetics +17

Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy

Wei Wang, Chen Wang, D. Brian Dawson et al. · Neurology · 2016 · 58 citations · Full text

Life Sciences, Genetics, Neurology +17