Susan Slaugenhaupt - Concepedia

Author

Susan Slaugenhaupt

Also Known As

Roger R Markwald, S A Slaugenhaupt, S Slaugenhaupt, S. A. SLAUGENHAUPT, S. A. Slaugenhaupt, S. Slaugenhaupt, S.A. Slaugenhaupt, Slaugenhaupt, Susan A., Susan A Slaugenhaupt, Susan A. Slaugenhaupt

Publications

3.1K

Citations

H-Index

Concepts

All Affiliations

Massachusetts General Hospital Harvard University University of Pittsburgh Center for Human Genetics Baylor Genetics

About

Susan Slaugenhaupt is an author at Massachusetts General Hospital specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	11	12	2.2K
2	Biology	4	4	144
3	Natural Sciences	2	2	49
4	Public Health	1	1	11
5	Social Sciences	1	1	215

Susan Slaugenhaupt

Publications

2.9K

Citations

H-Index

Page 1

	Year	Citations
DNA duplication associated with Charcot-Marie-Tooth disease type 1A James R. Lupski, Roberto Montes‐de‐Oca‐Luna, Susan Slaugenhaupt, Cell Mendelian DisorderGenetic DisorderGeneticsDna DuplicationPathology	1991	1.3K
A TRP Channel in the Lysosome Regulates Large Particle Phagocytosis via Focal Exocytosis Mohammad Samie, Xiang Wang, Xiaoli Zhang, Developmental Cell Molecular PhysiologySignal TransductionFocal ExocytosisImmunologyEndocytic Pathway	2013	304
Biotin-Responsive Basal Ganglia Disease Maps to 2q36.3 and Is Due to Mutations in SLC19A3 Wenqi Zeng, Eiman A. Al-Yamani, James S. Acierno, The American Journal of Human Genetics Neurodegenerative DiseasesMolecular NeuroscienceMedicineDegenerative DiseaseNeuroscience	2005	215
The neurogenetics of mucolipidosis type IV Gheona Altarescu, Mei Sun, Dennis F. Moore, Neurology	2002	177
Rescue of a human mRNA splicing defect by the plant cytokinin kinetin Susan Slaugenhaupt Human Molecular Genetics GeneticsRna SplicingMolecular GeneticsDisease Gene IdentificationSplicing Variant	2003	157
REPORT on the Sixth International Workshop on Chromosome 9 held at Denver, Colorado, U.S.A., 27 October 1998 Brian P. Chadwick, Lynda J. Campbell, Cynthia L. Jackson, Annals of Human Genetics	1999	101
Mapping of the Mucolipidosis Type IV Gene to Chromosome 19p and Definition of Founder Haplotypes Susan Slaugenhaupt, James S. Acierno, L.A. Helbling, The American Journal of Human Genetics BiologyHaplotype DeterminationGenetic DisorderGeneticsFounder Haplotypes	1999	91
Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17. Pragna I. Patel, Brunella Franco, Carlos García, PubMed	1990	65
Intestinal cell kinase (ICK) localizes to the crypt region and requires a dual phosphorylation site found in map kinases Kazumi Togawa, Yuxin Yan, Takuya Inomoto, Journal of Cellular Physiology	2000	57
Expression of the familial cardiac valvular dystrophy gene, filamin‐A, during heart morphogenesis Russell A. Norris, Ricardo A. Moreno‐Rodriguez, Andy Wessels, Developmental Dynamics	2010	50

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