Yannis Duffourd

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

Sophie Nambot, Julien Thévenon, Paul Kuentz et al. · Genetics in Medicine · 2017 · 197 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 140 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes

Lina Liang, Xia Li, Sébastien Moutton et al. · Human Molecular Genetics · 2019 · 91 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

Anne‐Laure Mosca‐Boidron, Lucie Gueneau, Guillaume Huguet et al. · European Journal of Human Genetics · 2015 · 66 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

Ange‐Line Bruel, Sophie Nambot, Virginie Quéré et al. · European Journal of Human Genetics · 2019 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15