Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly

by Wentzensen, Ingrid M, Johnston, Jennifer J, Patton, John H, Graham, John M, Sapp, Julie C, Biesecker, Leslie G
Published 2016

Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral–facial–digital anomalies

by Wentzensen, Ingrid M, Johnston, Jennifer J, Keppler-Noreuil, Kim, Acrich, Karina, David, Karen, Johnson, Kisha D, Graham, John M, Sapp, Julie C, Biesecker, Leslie G
Published 2015

Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum

by Ngoh, Adeline, McTague, Amy, Wentzensen, Ingrid M, Meyer, Esther, Applegate, Carolyn, Kossoff, Eric H, Batista, Denise A, Wang, Tao, Kurian, Manju A
Published 2014