Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency - Joshi Stephen; Thierry Vilboux; Luhe Mian; Chulaluck Kuptanon; Courtney M. Sinclair; Deniz Yildirimli; Dawn M. Maynard; Joy Bryant; Roxanne Fischer; Meghana Vemulapalli; James C. Mullikin; Marjan Huizing; et al. (Human Genetics, 2017)

Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants - Seth I. Berger; Carla Ciccone; Karen L. Simon; May Christine Malicdan; Thierry Vilboux; Charles Billington; Roxanne Fischer; Wendy J. Introne; Andrea Gropman; Jan K. Blancato; James C. Mullikin; William A. Gahl; et al. (Human Genetics, 2017)

Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene - Petcharat Leoyklang; Kanya Suphapeetiporn; Chalurmpon Srichomthong; Siraprapa Tongkobpetch; Stefanie Fietze; Heidi Dorward; Andrew R. Cullinane; William A. Gahl; Marjan Huizing; Vorasuk Shotelersuk (Human Genetics, 2013)

Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: Secondary structures, expression profiles, and response to ManNAc therapy - Tal Yardeni; Katherine Jacobs; Terren K. Niethamer; Carla Ciccone; Yair Anikster; Natalya Kurochkina; William A. Gahl; Marjan Huizing (Glycoconjugate Journal, 2013)

Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics - Paul D. Anderson; Marjan Huizing; David A. Claassen; James White; William A. Gahl (Human Genetics, 2003)

Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complex - Frans J.M. Trijbels; Wim Ruitenbeek; Marjan Huizing; Udo Wendel; Jan A.M. Smeitink; Rob C.A. Sengers (Molecular and Cellular Biochemistry, 1997)