Lakshmi Mehta

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

Marc Nicolino, Barry J. Byrne, J. Edmund Wraith et al. · Genetics in Medicine · 2009 · 290 citations · Full text

Pediatric Epidemiology, Clinical Epidemiology, Pediatrics +7

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

ABCA12 Is the Major Harlequin Ichthyosis Gene

Anna Thomas, Tom Cullup, Elizabeth E. Norgett et al. · Journal of Investigative Dermatology · 2006 · 114 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +6

CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-Fetoprotein

Anne Slavotinek, Julie Kaylor, Heather Pierce et al. · The American Journal of Human Genetics · 2014 · 96 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

Amy Yang, Bobby G. Ng, Steven A. Moore et al. · Molecular Genetics and Metabolism · 2013 · 82 citations · Full text

Rare Diseases, Mendelian Disorder, Genetic Disorder +7