Dawn Peck

SYT1-associated neurodevelopmental disorder: a case series

Kate Baker, Sarah L. Gordon, Holly Melland et al. · Brain · 2018 · 143 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Precision newborn screening for lysosomal disorders

Melissa M. Minter Baerg, Stephanie D. Stoway, Jeremy Hart et al. · Genetics in Medicine · 2017 · 117 citations · Full text

Medicine, Bioinformatics, Molecular Genetics +16

Further delineation of the phenotype resulting from <i>BRAF</i> or <i>MEK1</i> germline mutations helps differentiate cardio‐facio‐cutaneous syndrome from Costello syndrome

Karen W. Gripp, Angela E. Lin, Linda K. Nicholson et al. · American Journal of Medical Genetics Part A · 2007 · 95 citations

Life Sciences, Genetics, Molecular Genetics +11

The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease

Adam J. Guenzel, Coleman Turgeon, Kim K. Nickander et al. · Genetics in Medicine · 2020 · 61 citations

Medicine, Pharmacology, Psychiatry +12

The effects of tetrahydrobiopterin (BH4) treatment on brain function in individuals with phenylketonuria

Shawn E. Christ, Amanda J. Moffitt, Dawn Peck et al. · NeuroImage Clinical · 2013 · 58 citations · Full text

Life Sciences, Neuroscience, Pharmacology +16