Lee Zellmer

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

Sarah Soden, Carol Saunders, Laurel K. Willig et al. · Science Translational Medicine · 2014 · 532 citations

Life Sciences, Genetics, Pediatrics +6

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

Laurel K. Willig, Josh E Petrikin, Laurie D. Smith et al. · The Lancet Respiratory Medicine · 2015 · 406 citations · Full text

Life Sciences, Genetics, Pediatrics +15

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants

Josh E Petrikin, Julie A. Cakici, Michelle M. Clark et al. · npj Genomic Medicine · 2018 · 222 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Clinical genome sequencing in an unbiased pediatric cohort

Isabelle Thiffault, Emily Farrow, Lee Zellmer et al. · Genetics in Medicine · 2018 · 53 citations · Full text

Life Sciences, Genetics, Pediatrics +15

<i>PCDH19</i>‐related epileptic encephalopathy in a male mosaic for a truncating variant

Isabelle Thiffault, Emily Farrow, Laurie D. Smith et al. · American Journal of Medical Genetics Part A · 2016 · 39 citations

Life Sciences, Genetics, Molecular Genetics +17