David S. Liu

Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia

R. Gibbs, Philippe M. Campeau, James T. Lu, 2017, The Journal of clinical investigation.

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation

James T Lu, Richard A Gibbs, Philippe M Campeau, 2017, Cold Spring Harbor molecular case studies.

Early childhood presentation of Czech dysplasia

R. Gibbs, Philippe M. Campeau, C. Bacino, 2013, Clinical dysmorphology.

Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia

R. Gibbs, Mahim Jain, Philippe M. Campeau, 2014, Molecular genetics and metabolism reports.

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

E. Zackai, J. Lupski, R. Gibbs, 2020, Genetics in Medicine.

Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.

R. Gibbs, James T. Lu, Brendan H. Lee, 2014, The Journal of clinical endocrinology and metabolism.