Michael B. Bober

Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia

Michael P. Whyte, Cheryl R. Greenberg, Nada Salman et al. · New England Journal of Medicine · 2012 · 566 citations · Full text

Medicine, Pediatrics, Pharmacotherapy +17

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

Louise S. Bicknell, Ernie M.H.F. Bongers, Andrea Leitch et al. · Nature Genetics · 2011 · 251 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Association of TALS Developmental Disorder with Defect in Minor Splicing Component <i>U4atac</i> snRNA

Patrick Edery, Charles Marcaillou, Mourad Sahbatou et al. · Science · 2011 · 227 citations

Life Sciences, Molecular Biology, Molecular Genetics +16

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

Louise S. Bicknell, Sarah Walker, Anna Klingseisen et al. · Nature Genetics · 2011 · 208 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial

Ravi Savarirayan, Louise Tofts, Melita Irving et al. · The Lancet · 2020 · 198 citations

Medicine, Pediatrics, Pharmacotherapy +2