Laurence Faivre

The revised Ghent nosology for the Marfan syndrome: Table 1

Bart Loeys, Harry C. Dietz, Alan C. Braverman et al. · Journal of Medical Genetics · 2010 · 2.2K citations · Full text

Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study

Laurence Faivre, Gwenaëlle Collod‐Béroud, Bart Loeys et al. · The American Journal of Human Genetics · 2007 · 593 citations · Full text

Marfan Syndrome, Mendelian Disorder, Genetic Disorder +11

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson et al. · Nature Genetics · 2014 · 582 citations · Full text

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey et al. · Nature · 2011 · 474 citations · Full text

Gene Dosage, Genetics, Human Polymorphism +8

Mutation spectrum and splicing variants in the OPA1 gene

Cécile Delettre, Jean‐Michel Griffoin, Josseline Kaplan et al. · Human Genetics · 2001 · 379 citations

Somatic Variant, Genetics, Molecular Genetics +5