Ludwine Messiaen

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Eric Legius, Ludwine Messiaen, P. Wolkenstein et al. · Genetics in Medicine · 2021 · 687 citations · Full text

Exhaustive mutation analysis of theNF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects

Ludwine Messiaen, Tom Callens, Geert Mortier et al. · Human Mutation · 2000 · 496 citations

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype

Hilde Brems, Magdalena Chmara, Mourad Sahbatou et al. · Nature Genetics · 2007 · 467 citations

Genome Instability, Developmental Biology, Mendelian Disorder +8

An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation

Meena Upadhyaya, Susan Huson, D. M. Davies et al. · The American Journal of Human Genetics · 2006 · 360 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetic Epidemiology +8

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

Arkadiusz Piotrowski, Jing Xie, Ying F Liu et al. · Nature Genetics · 2013 · 315 citations

Developmental Anomaly, Rare Diseases, Somatic Variant +12