Warsha A. Kanhai

<i>IDH2</i> Mutations in Patients with <scp>d</scp> -2-Hydroxyglutaric Aciduria

Martijn Kranendijk, Eduard A. Struys, Emile Van Schaftingen et al. · Science · 2010 · 192 citations

Urology, Somatic Variant, Aldehyde Dehydrogenase +15

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

Benjamin Nota, Eduard A. Struys, Ana Pop et al. · The American Journal of Human Genetics · 2013 · 138 citations · Full text

Causes Combined D-2-, L-2-hydroxyglutaric Aciduria, Mitochondrial Citrate Carrier +7

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

Sietske H. Kevelam, Marianna Bugiani, Gajja S. Salomons et al. · Brain · 2013 · 95 citations · Full text

Cerebral Atrophy, Neurological Disorder, Genetics +18

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the<i>GAMT</i>Gene

Saadet Mercimek‐Mahmutoglu, Joseph Ndika, Warsha A. Kanhai et al. · Human Mutation · 2014 · 47 citations

Guanidinoacetate Methyltransferase Deficiency, Creatine Biosynthesis, Thirteen New Patients +20

Non‐invasive prenatal diagnosis of beta‐thalassemia and sickle‐cell disease using pyrophosphorolysis‐activated polymerization and melting curve analysis

Marion Phylipsen, Supawadee Yamsri, Emmely E. Treffers et al. · Prenatal Diagnosis · 2012 · 45 citations · Full text