Yannis Duffourd

TET2 Inactivation Results in Pleiotropic Hematopoietic Abnormalities in Mouse and Is a Recurrent Event during Human Lymphomagenesis

Cyril Quivoron, Lucile Couronné, Véronique Della Valle et al. · Cancer Cell · 2011 · 897 citations · Full text

Medicine, Hematology, Oncology +10

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test

Julien Thévenon, Yannis Duffourd, Alice Masurel‐Paulet et al. · Clinical Genetics · 2016 · 269 citations

Life Sciences, Genetics, Molecular Genetics +17

BCOR and BCORL1 mutations in myelodysplastic syndromes and related disorders

Frédérik Damm, Virginie Chesnais, Yasunobu Nagata et al. · Blood · 2013 · 227 citations

Medicine, Genetics, Molecular Genetics +8

Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis

Anna Thomas, Zhiqiang Zeng, Jean‐Baptiste Rivière et al. · Journal of Investigative Dermatology · 2016 · 187 citations · Full text

Medicine, Dermatology, Genetics +16

Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

Julien Thévenon, Mathieu Milh, François Feillet et al. · The American Journal of Human Genetics · 2014 · 136 citations · Full text

Life Sciences, Genetics, Neuroscience +13