Geraldine A. McDowell

Technical Standards and Guidelines for Fragile X: The First of a Series of Disease-Specific Supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics

Anne Maddalena, Carolyn Sue Richards, Matthew J. McGinniss et al. · Genetics in Medicine · 2001 · 230 citations · Full text

Genetic Testing, Clinical Genetics Laboratories, Fragile X +10

CTNS Mutations in an American-Based Population of Cystinosis Patients

Vorasuk Shotelersuk, David E. Larson, Yair Anikster et al. · The American Journal of Human Genetics · 1998 · 170 citations · Full text

Urology, Genetic Disorder, Ctns Mutations +4

The Genomic Region Encompassing the Nephropathic Cystinosis Gene (<i>CTNS</i>): Complete Sequencing of a 200-kb Segment and Discovery of a Novel Gene within the Common Cystinosis-Causing Deletion

Jeffrey W. Touchman, Yair Anikster, Nicole Dietrich et al. · Genome Research · 2000 · 133 citations · Full text

Ocular Nonnephropathic Cystinosis: Clinical, Biochemical, and Molecular Correlations

Yair Anikster, Cynthia Lucero, Juanru Guo et al. · Pediatric Research · 2000 · 127 citations · Full text

Urology, Ophthalmology, Histopathology +4

Linkage of the gene for cystinosis to markers on the short arm of chromosome 17

Geraldine A. McDowell, William A. Gahl, Leah A. Stephenson et al. · Nature Genetics · 1995 · 101 citations

Chromatin, Short Arm, Cytogenetics +9