Damien Haye

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

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Anne‐Claude Tabet, Thomas Rolland, Marie Ducloy et al. · npj Genomic Medicine · 2017 · 79 citations · Full text

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

Affef Abidi, Jérôme Devaux, Florence Molinari et al. · Neurobiology of Disease · 2015 · 71 citations · Full text

Epileptic Encephalopathy, Channelopathies, Molecular Physiology +12

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

Stéphanie Valence, Emmanuelle Cochet, Christelle Rougeot et al. · Genetics in Medicine · 2018 · 54 citations · Full text

New Candidate Genes, Mendelian Disorder, Genetic Disorder +10

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Holger Hengel, Célia Bosso-Lefèvre, George Grady et al. · Nature Communications · 2020 · 52 citations · Full text