Mark J. Stephan

Heterogeneous Pulmonary Phenotypes Associated With Mutations in the Thyroid Transcription Factor Gene NKX2-1

Aaron Hamvas, Robin R. Deterding, Susan E. Wert et al. · CHEST Journal · 2013 · 185 citations · Full text

Inflammatory Lung Disease, Genetics, Pathology +3

Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister‐Killian syndrome): Report of 11 cases

James F. Reynolds, Art Daniel, Thaddeus E. Kelly et al. · American Journal of Medical Genetics · 1987 · 140 citations

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Jennifer J. Johnston, Julie C. Sapp, Joyce Turner et al. · Human Mutation · 2010 · 127 citations · Full text

Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy

Kimberly A. Aldinger, Stephen J. Mosca, Martine Tétreault et al. · The American Journal of Human Genetics · 2014 · 115 citations · Full text

Ocular Disease, Mendelian Disorder, Retinal Dystrophy +6

Limb reduction anomalies and early in utero limb compression

John M. Graham, Marvin E. Miller, Mark J. Stephan et al. · The Journal of Pediatrics · 1980 · 87 citations

Limb Reconstruction, Fetal Medicine, Lower Limb Trauma +8