Sandra Gill

Tissue-Specific Expression of a Splicing Mutation in the Gene Causes Familial Dysautonomia

Susan A. Slaugenhaupt, Anat Blumenfeld, Sandra Gill et al. · The American Journal of Human Genetics · 2001 · 593 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +9

Tissue-Specific Reduction in Splicing Efficiency of IKBKAP Due to the Major Mutation Associated with Familial Dysautonomia

Math P. Cuajungco, Maire Leyne, James Mull et al. · The American Journal of Human Genetics · 2003 · 140 citations · Full text

Transcriptional Regulation, Genetic Disorder, Genetics +11

Linkage Analysis of Chromosome 1q Markers in 136 Prostate Cancer Families

Rosalind A. Eeles, Francine Durocher, Steve Edwards et al. · The American Journal of Human Genetics · 1998 · 135 citations · Full text

Chromosome 1Q, Linkage Disequilibrium, Urology +8

Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia

Matthew M. Hims, El Chérif Ibrahim, Maire Leyne et al. · Journal of Molecular Medicine · 2007 · 73 citations

Therapeutic Potential, Genetics, Pathology +4

Identification of the first non‐Jewish mutation in familial Dysautonomia

Maire Leyne, James Mull, Sandra Gill et al. · American Journal of Medical Genetics Part A · 2003 · 72 citations · Full text