Laura M. McDonell

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

Vincenzo A. Gennarino, Elizabeth E. Palmer, Laura M. McDonell et al. · Cell · 2018 · 144 citations · Full text

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome

Laura M. McDonell, Ghayda Mirzaa, Diana Alcantara et al. · Nature Genetics · 2013 · 116 citations · Full text

Developmental Biology, Pathogenesis, Vascular Malformation +4

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

James T. Bennett, Tiong Yang Tan, Diana Alcantara et al. · The American Journal of Human Genetics · 2016 · 105 citations · Full text

Pathology, Fibroblast Growth Factor, Molecular Pathology +5

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)

Christine M. Armour, Dennis E. Bulman, Olga Jarinova et al. · European Journal of Human Genetics · 2011 · 37 citations · Full text

Bone Disease, Musculoskeletal Research, Distraction Osteogenesis +8

The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome

Laura M. McDonell, Jodi Warman‐Chardon, Jeremy Schwartzentruber et al. · BMC Neurology · 2014 · 22 citations · Full text