Christian Thiel

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

A New Type of Congenital Disorders of Glycosylation (CDG-Ii) Provides New Insights into the Early Steps of Dolichol-linked Oligosaccharide Biosynthesis

Christian Thiel, Markus Schwarz, Jianhe Peng et al. · Journal of Biological Chemistry · 2003 · 135 citations · Full text

Deficiency of UDP-galactose:N-acetylglucosamine β-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId

Bengt Hanßke, Christian Thiel, Torben Lübke et al. · Journal of Clinical Investigation · 2002 · 131 citations · Full text

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

Tobias B. Haack, Christian Staufner, Marlies Köpke et al. · The American Journal of Human Genetics · 2015 · 129 citations · Full text

Genetics, Immunology, Retrograde Transport +20

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed et al. · The American Journal of Human Genetics · 2017 · 113 citations · Full text

Genetic Disorder, Genetics, Pathogenesis +3