Sandra Mercier

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

Karim Wahbi, Rabah Ben Yaou, Estelle Gandjbakhch et al. · Circulation · 2019 · 245 citations · Full text

Lessons learned from additional research analyses of unsolved clinical exome cases

Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Tamar Harel et al. · Genome Medicine · 2017 · 230 citations · Full text

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Sébastien Küry, Geeske M. van Woerden, Thomas Besnard et al. · The American Journal of Human Genetics · 2017 · 193 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5

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

Fatal thrombotic microangiopathy case following adeno-associated viral <i>SMN</i> gene therapy

Julia Guillou, Alice de Pellegars, Florence Porcheret et al. · Blood Advances · 2022 · 137 citations · Full text