Mark Lubinsky

Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type Ij

Xiaohua Wu, Jeffrey S. Rush, Denise Karaoglu et al. · Human Mutation · 2003 · 144 citations

Life Sciences, Biochemistry, Molecular Genetics +17

Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity.

Maximilian Muenke, Fiorella Gurrieri, Christiane Bay et al. · Proceedings of the National Academy of Sciences · 1994 · 116 citations

Life Sciences, Genetics, Molecular Genetics +17

Hypothesis: Septo-optic dysplasia is a vascular disruption sequence

Mark Lubinsky · American Journal of Medical Genetics · 1997 · 101 citations

Medicine, Developmental Biology, Neuroscience +17

Sialic Acid Storage Disease with Sialuria: Clinical and Biochemical Features in the Severe Infantile Type

Roger E. Stevenson, Mark Lubinsky, Harold A. Taylor et al. · PEDIATRICS · 1983 · 82 citations

Life Sciences, Biochemistry, Pathology +7

Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21.

Diane E. Merry, J G Lesko, Donna M. Sosnoski et al. · PubMed · 1989 · 79 citations

Life Sciences, Genetics, Molecular Genetics +14