Marie‐Line Jacquemont

11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations

Irène Netchine, Sylvie Rossignol, Marie‐Noëlle Dufourg et al. · The Journal of Clinical Endocrinology & Metabolism · 2007 · 312 citations · Full text

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

Marie Vincent, David Geneviève, Agnès Ostertag et al. · Genetics in Medicine · 2015 · 159 citations

Large Series, Collins Syndrome, Molecular Study +1

Weaver syndrome and <i>EZH2</i> mutations: Clarifying the clinical phenotype

Katrina Tatton‐Brown, Anne R. Murray, Sandra Hanks et al. · American Journal of Medical Genetics Part A · 2013 · 145 citations · Full text

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Paul Kuentz, Judith St‐Onge, Yannis Duffourd et al. · Genetics in Medicine · 2017 · 133 citations · Full text

Molecular Diagnosis, Genetic Testing, Mendelian Disorder +9

New insights into genotype–phenotype correlation for GLI3 mutations

Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli et al. · European Journal of Human Genetics · 2014 · 121 citations · Full text

Genetics, Genotype–phenotype Correlation, Molecular Genetics +3