Céline Bürer

3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

Sarah C. Grünert, Martin Stucki, Raphael J. Morscher et al. · Orphanet Journal of Rare Diseases · 2012 · 93 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Marianne Rohrbach, Helen Spencer, Louise F. Porter et al. · Molecular Genetics and Metabolism · 2013 · 85 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients

Patricie Burda, Alexandra Schäfer, Terttu Suormala et al. · Human Mutation · 2015 · 80 citations

Life Sciences, Genetics, Molecular Genetics +16

Shifting landscapes of human MTHFR missense-variant effects

Jochen Weile, Nishka Kishore, Song Sun et al. · The American Journal of Human Genetics · 2021 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency

Patrick Forny, Ximena Bonilla, David Lamparter et al. · Nature Metabolism · 2023 · 58 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17