Shelley K. Dills

Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

D. Bick, S. Wallace, T. Mcgregor, 2014, Clinical genetics.

Prader-Willi Syndrome: An Update and Review for the Primary Pediatrician

J. Graham, J. Visootsak, S. Dills, 2007, Clinical pediatrics.

DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.

R. Pfundt, S. Skinner, R. Louie, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Michael F. Wangler, E. Zackai, David T. Miller, 2018, Genetics in Medicine.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Michael F. Wangler, David T. Miller, B. Korf, 2019 .