Concepedia

Stacie K. Loftus

SK

37

Publications

4.4K

Citations

27

H-Index

1993

Active since

Affiliations

National Human Genome Research Institute(Current)

National Institutes of Health

Johns Hopkins University

Johns Hopkins Medicine

University of California, Irvine

Stacie K. Loftus is an author at National Human Genome Research Institute specializing in medicine, genetics, and cell biology.

Top concepts

MedicineGeneticsCell BiologyGene ExpressionMolecular GeneticsGenomicsDevelopmental BiologyTranscriptional RegulationMolecular BiologySystems Biology

Publications per year

1993–2023

37

Publications

37

Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis

Eugene D. Carstea, Jill A. Morris, Katherine Coleman et al. · Science · 1997 · 1.5K citations

Murine Model of Niemann-Pick C Disease: Mutation in a Cholesterol Homeostasis Gene

Stacie K. Loftus, Jill A. Morris, Eugene D. Carstea et al. · Science · 1997 · 804 citations

A Polymorphism in IRF4 Affects Human Pigmentation through a Tyrosinase-Dependent MITF/TFAP2A Pathway

Christian Praetorius, Christine Grill, Simon Stacey et al. · Cell · 2013 · 224 citations · Full text

Molecular Physiology, Signal Transduction, Signaling Pathway +7

Massively Parallel Sequencing of Exons on the X Chromosome Identifies RBM10 as the Gene that Causes a Syndromic Form of Cleft Palate

Jennifer J. Johnston, Jamie K. Teer, Praveen F. Cherukuri et al. · The American Journal of Human Genetics · 2010 · 161 citations · Full text

Developmental Biology, Parallel Sequencing, Mendelian Disorder +11

Mutation of melanosome protein RAB38 in <i>chocolate</i> mice

Stacie K. Loftus, Denise M. Larson, Laura L. Baxter et al. · Proceedings of the National Academy of Sciences · 2002 · 161 citations · Full text

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