Denise M. Hoover

Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa

James D. Eudy, Michael D. Weston, Su-Fang Yao et al. · Science · 1998 · 393 citations

Life Sciences, Genetics, Molecular Genetics +15

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease

Ian D. Krantz, Līvija Medne, Jamila Weatherly et al. · JAMA Pediatrics · 2021 · 173 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Tietz syndrome (hypopigmentation/deafness) caused by mutation of<i>MITF</i>: Figure 1

Shelley D. Smith, Philip M. Kelley, Judith B. Kenyon et al. · Journal of Medical Genetics · 2000 · 151 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Characterizing Long COVID in Children and Adolescents

Rachel S. Gross, Tanayott Thaweethai, Lawrence C. Kleinman et al. · JAMA · 2024 · 86 citations · Full text

Medicine, Infectious Diseases, Pediatrics +6

Genetic Heterogeneity of Usher Syndrome: Analysis of 151 Families with Usher Type I

Lisa M. Astuto, Michael D. Weston, Carol A. Carney et al. · The American Journal of Human Genetics · 2000 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15