Sharita Timal

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

Laura C. Tegtmeyer, Stephan Rust, Monique van Scherpenzeel et al. · New England Journal of Medicine · 2014 · 279 citations · Full text

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

Sharita Timal, Alexander Hoischen, Ludwig Lehle et al. · Human Molecular Genetics · 2012 · 170 citations

Mendelian Disorder, Genetic Disorder, Whole-exome Sequencing +14

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Eric J. R. Jansen, Sharita Timal, Margret Ryan et al. · Nature Communications · 2016 · 146 citations · Full text

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Jos C. Jansen, Sebahattin Çirak, Monique van Scherpenzeel et al. · The American Journal of Human Genetics · 2016 · 97 citations · Full text

Abnormal Protein Glycosylation, Biochemistry, Disease Mechanism +11

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

Jos C. Jansen, Sharita Timal, Monique van Scherpenzeel et al. · The American Journal of Human Genetics · 2016 · 89 citations · Full text

Autoimmune Disease, Disease Mechanism, Abnormal Glycosylation +9