Deborah M. Lambert

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

Stéphanie Nguengang Wakap, Deborah M. Lambert, Annie Olry et al. · European Journal of Human Genetics · 2019 · 1.8K citations · Full text

Public Health, Health Sciences, Population Health Sciences +16

<i>CRTAP</i>and<i>LEPRE1</i>mutations in recessive osteogenesis imperfecta

Dustin Baldridge, Ulrike Schwarze, Roy Morello et al. · Human Mutation · 2008 · 209 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Outcomes of Siblings with Classical Galactosemia

Joanne Hughes, Stephanie Ryan, Deborah M. Lambert et al. · The Journal of Pediatrics · 2009 · 134 citations

Life Sciences, Genetics, Pediatrics +7

Lack of selectivity of URB602 for 2‐oleoylglycerol compared to anandamide hydrolysis <i>in vitro</i>

Séverine Vandevoorde, K‐O Jonsson, Geoffray Labar et al. · British Journal of Pharmacology · 2006 · 94 citations · Full text

Life Sciences, Biochemistry, Pharmacology +16

Trimethylaminuria Is Caused by Mutations of the FMO3 Gene in a North American Cohort

Beverly R. Akerman, H. Lemass, Lionel M.L. Chow et al. · Molecular Genetics and Metabolism · 1999 · 79 citations

Life Sciences, Genetics, Molecular Genetics +8