J. Hoover

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low‐copy repeats

Stephanie E. Vallee, J. Rosenfeld, L. Shaffer, 2012, Human mutation.

Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.

D. Jukic, L. Ferris, L. Wolfe, 2011, The Journal of clinical investigation.

Mutations in the human SC 4 MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis , microcephaly , and developmental delay

D. Jukic, L. Ferris, L. Wolfe, 2011 .

Mutations in the SC4MOL gene encoding a novel methyl sterol oxidase cause autosomal recessive psoriasisiform dermatitis, microcephaly and developmental delay

L. Ferris, M. He, A. Vallejo, 2008 .

Homozygous XYLT2 variants as a cause of spondyloocular syndrome

T. Meitinger, T. Strom, G. Eckstein, 2018, Clinical genetics.

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Matthew J. Thomas, J. Rosenfeld, B. Torchia, 2012, European Journal of Human Genetics.