Mislen Bauer

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

Paweł Stankiewicz, Partha Sen, Samarth Bhatt et al. · The American Journal of Human Genetics · 2009 · 513 citations · Full text

Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe Disease

Priya S. Kishnani, Deya Corzo, Nancy D. Leslie et al. · Pediatric Research · 2009 · 331 citations · Full text

Pompe Disease, Malaria, Pediatrics +2

Chromosome 17 loss-of-heterozygosity studies in benign and malignant tumors in neurofibromatosis type 1

Sonja A. Rasmussen, Jennifer Overman, Susanne Thomson et al. · Genes Chromosomes and Cancer · 2000 · 101 citations

A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease

Paul Harmatz, Chester B. Whitley, Raymond Wang et al. · Molecular Genetics and Metabolism · 2018 · 68 citations · Full text

Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome

Jeff M. Milunsky, Tom M. Maher, Geping Zhao et al. · American Journal of Medical Genetics Part A · 2010 · 67 citations

Genetics, Genetic Epidemiology, Pathology +18