Katrien Janssens

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

Jan Hellemans, Olena Preobrazhenska, Andy Willaert et al. · Nature Genetics · 2004 · 454 citations · Full text

Lemd3 Result, Developmental Biology, Sclerostin +9

Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease

Katrien Janssens, Ruth Gershoni‐Baruch, Núria Guañabens et al. · Nature Genetics · 2000 · 211 citations

Latency-associated Peptide, Signal Transduction, Human Growth +5

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 · 186 citations · Full text

Molecular Neuroscience, Molecular Physiology, Autonomic Neuropathy Type +10

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Kris Van Den Bogaert, Lore Lannoo, Nathalie Brison et al. · Genetics in Medicine · 2021 · 123 citations · Full text

Health Policy, Prenatal Genetic Testing, Prenatal Genetic Screening +6

Transforming Growth Factor-β1 Mutations in Camurati-Engelmann Disease Lead to Increased Signaling by Altering either Activation or Secretion of the Mutant Protein

Katrien Janssens, Peter ten Dijke, Stuart H. Ralston et al. · Journal of Biological Chemistry · 2003 · 118 citations · Full text