Annelies Rotthier

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

Ingo Kurth, Torsten Pamminger, J. Christopher Hennings et al. · Nature Genetics · 2009 · 256 citations

Life Sciences, Genetics, Molecular Genetics +15

Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

Annelies Rotthier, Michaela Auer‐Grumbach, Katrien Janssens et al. · The American Journal of Human Genetics · 2010 · 189 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation

Annelies Rotthier, Jonathan Baets, Els De Vriendt et al. · Brain · 2009 · 166 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies

Emma Ashton, Anne Debost‐Legrand, Valérie Benoît et al. · Kidney International · 2018 · 100 citations · Full text

Medicine, Genetics, Nephrology +16

High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults

Marguerite Hureaux, Emma Ashton, Karin Dahan et al. · Kidney International · 2019 · 52 citations · Full text

Medicine, Genetics, Molecular Medicine +12