Laura Dempsey Nunez

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the <i>MTHFD1</i> gene in a single proband

David Watkins, Jeremy Schwartzentruber, J Ganesh et al. · Journal of Medical Genetics · 2011 · 77 citations

Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the <i>ACSF3</i> gene in patients with a non-classic phenotype

Ahmed Alfares, Laura Dempsey Nunez, Khalid Al‐Thihli et al. · Journal of Medical Genetics · 2011 · 48 citations · Full text

Somatic overgrowth associated with homozygous mutations in both <i>MAN1B1</i> and <i>SEC23A</i>

Swati Gupta, Somayyeh Fahiminiya, Tracy Wang et al. · Molecular Case Studies · 2016 · 24 citations · Full text

Homozygous Mutations, Genetics, Genomic Mechanism +21

Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings

Chitra Prasad, Serge B. Melançon, C. Anthony Rupar et al. · Molecular Genetics and Metabolism · 2012 · 23 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +9