Brooke Smith

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

Phillip F. Chance, M. Kathryn Alderson, Kathleen A. Leppig et al. · Cell · 1993 · 806 citations

Life Sciences, Genetics, Molecular Genetics +12

Peripheral myelin protein–22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot–Marie–Tooth 1A

Norisada Matsunami, Brooke Smith, L. Ballard et al. · Nature Genetics · 1992 · 294 citations

Life Sciences, Genetics, Molecular Genetics +15

Whole exome sequencing reveals de novo pathogenic variants in <i>KAT6A</i> as a cause of a neurodevelopmental disorder

Francisca Millan, Megan T. Cho, Kyle Retterer et al. · American Journal of Medical Genetics Part A · 2016 · 60 citations

Life Sciences, Genetics, Molecular Genetics +17

Agglutinin-Like Sequence (ALS) Genes in the Candida parapsilosis Species Complex: Blurring the Boundaries Between Gene Families That Encode Cell-Wall Proteins

Soon-Hwan Oh, Brooke Smith, Andrew N. Miller et al. · Frontiers in Microbiology · 2019 · 53 citations · Full text

Life Sciences, Genetics, Microbiology +17

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size

Diana Le Duc, Cecilia Giulivi, Susan M. Hiatt et al. · Brain · 2019 · 53 citations · Full text

Life Sciences, Genetics, Neuroscience +17