Mindy H. Li

<i>PURA-</i> Related Developmental and Epileptic Encephalopathy

Katrine M. Johannesen, Elena Gardella, Cathrine E. Gjerulfsen et al. · Neurology Genetics · 2021 · 47 citations · Full text

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss

Sarah E. Sheppard, Sawona Biswas, Mindy H. Li et al. · Genetics in Medicine · 2018 · 40 citations · Full text

Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister‐Hall syndrome

Mindy H. Li, Moriah Eberhard, Pamela Mudd et al. · American Journal of Medical Genetics Part A · 2015 · 13 citations · Full text