S. Ferkal

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

Éric Pasmant, Audrey Sabbagh, Gill Spurlock et al. · Human Mutation · 2010 · 241 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966

Christina Bergqvist, Amandine Servy, L. Valeyrie‐Allanore et al. · Orphanet Journal of Rare Diseases · 2020 · 186 citations · Full text

Medicine, Clinical Sciences, Neurology +7

<i>NF1</i> Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience

Audrey Sabbagh, Éric Pasmant, Apolline Imbard et al. · Human Mutation · 2013 · 175 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1

Audrey Sabbagh, Éric Pasmant, Ingrid Laurendeau et al. · Human Molecular Genetics · 2009 · 144 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in France

T.A. Duong, É. Sbidian, L. Valeyrie‐Allanore et al. · Orphanet Journal of Rare Diseases · 2011 · 137 citations · Full text

Medicine, Internal Medicine, Neurology +15