Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
2021 · Genetics in Medicine · 713 citations
https://doi.org/10.1038/s41436-021-01170-5
L
Ludwine Messiaen
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Ludwine Messiaen is an academic researcher from University of Alabama at Birmingham. The author has contributed to research in topics: Neurofibromatosis and Schwannoma Cases & Chromatin Remodeling and Cancer & Genomic variations and chromosomal abnormalities. The author has an h-index of 55, co-authored 238 publications.
ORCID: 0000-0002-1136-0154Papers by this author
worksGenotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
2017 · The American Journal of Human Genetics · 203 citations
https://doi.org/10.1016/j.ajhg.2017.12.001
SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints
2014 · Genome biology · 85 citations
https://doi.org/10.1186/gb-2014-15-6-r80
Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1
2018 · Communications Biology · 72 citations
https://doi.org/10.1038/s42003-018-0163-y
BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families
2004 · British Journal of Cancer · 63 citations
https://doi.org/10.1038/sj.bjc.6601656
Neurofibromatosis 2011: a report of the Children’s Tumor Foundation Annual Meeting
2011 · Acta Neuropathologica · 36 citations
https://doi.org/10.1007/s00401-011-0905-0
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