Susan A. Slaugenhaupt

Overview

Best Publications

• The GPR54 Gene as a Regulator of Puberty

  Stephanie B. Seminara;Sophie Messager;Emmanouella E. Chatzidaki;Rosemary R. Thresher

  3140
  Citations

• DNA duplication associated with Charcot-Marie-Tooth disease type 1A

  James R. Lupski;Roberto Montes de Oca-Luna;Susan Slaugenhaupt;Liu Pentao

  1509
  Citations

• Molecular characterization of a second melatonin receptor expressed in human retina and brain: the Mel1b melatonin receptor

  Steven M. Reppert;Catherine Godson;Cathy D. Mahle;David R. Weaver

  1182
  Citations

• Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.

  Susan A. Slaugenhaupt;Anat Blumenfeld;Sandra P. Gill;Maire Leyne

  656
  Citations

• Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel

  Mei Sun;Ehud Goldin;Stefanie Stahl;John L. Falardeau

  476
  Citations

• Autophagy in lysosomal storage disorders

  Andrew P. Lieberman;Rosa Puertollano;Nina Raben;Susan Ann Slaugenhaupt

  445
  Citations

• Mitral valve disease—morphology and mechanisms

  Robert A. Levine;Albert A. Hagége;Daniel P. Judge;Muralidhar Padala

  365
  Citations

• A TRP Channel in the Lysosome Regulates Large Particle Phagocytosis via Focal Exocytosis

  Mohammad Samie;Xiang Wang;Xiaoli Zhang;Andrew Goschka

  303
  Citations

• Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis.

  Sebastian Treusch;Sarah Knuth;Susan A. Slaugenhaupt;Ehud Goldin

  259
  Citations

• The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms.

  S E Antonarakis;M B Petersen;M G McInnis;P A Adelsberger

  258
  Citations

• Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome.

  Andrew C. Warren;Aravinda Chakravarti;Corinne Wong;Susan A. Slaugenhaupt

  238
  Citations

• The neurogenetics of mucolipidosis type IV

  G. Altarescu;M. Sun;D. F. Moore;J. A. Smith

  238
  Citations

• Transcription Impairment and Cell Migration Defects in Elongator-Depleted Cells: Implication for Familial Dysautonomia

  Pierre Close;Pierre Close;Nicola Hawkes;Isabelle Cornez;Catherine Creppe

  236
  Citations

• Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway.

  Janice M LaPlante;John Falardeau;Mei Sun;Marie Kanazirska

  226
  Citations

• Biotin-responsive Basal Ganglia Disease Maps to 2q36.3 and Is Due to Mutations in SLC19A3

  Wen-Qi Zeng;Eiman Al-Yamani;James S. Acierno;Susan Slaugenhaupt

  218
  Citations

• The corticotropin-releasing hormone gene and behavioral inhibition in children at risk for panic disorder.

  Jordan W. Smoller;Lesley H. Yamaki;Jesen A. Fagerness;Joseph Biederman

  212
  Citations

• New Locus for Autosomal Dominant Mitral Valve Prolapse on Chromosome 13 Clinical Insights From Genetic Studies

  Francesca Nesta;Maire Leyne;Chaim Yosefy;Charles Simpson

  203
  Citations

• Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis.

  Anat Blumenfeld;Susan A. Slaugenhaupt;Felicia B. Axelrod;Diane E. Lucente

  197
  Citations

• A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10

  Misha Angrist;Erick Kauffman;Susan A. Slaugenhaupt;Susan A. Slaugenhaupt;Tara Cox Matise

  196
  Citations

• Mutations in DCHS1 cause mitral valve prolapse

  Ronen Durst;Ronen Durst;Kimberly Sauls;David S. Peal;Annemarieke DeVlaming

  194
  Citations