Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review

por GAULD, Christophe, POISSON, Alice, REVERSAT, Julie, PEYROUX, Elodie, HOUDAYER-ROBERT, Françoise, ROSSI, Massimiliano, LESCA, Gaetan, SANLAVILLE, Damien, DEMILY, Caroline
Publicado 2021

A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability

por Sapey-Triomphe, Laurie-Anne, Reversat, Julie, Lesca, Gaëtan, Chatron, Nicolas, Bussa, Marina, Mazoyer, Sylvie, Schmitz, Christina, Sonié, Sandrine, Edery, Patrick
Publicado 2020

Alpha Satellite Insertion Close to an Ancestral Centromeric Region

por Giannuzzi, Giuliana, Logsdon, Glennis A, Chatron, Nicolas, Miller, Danny E, Reversat, Julie, Munson, Katherine M, Hoekzema, Kendra, Bonnet-Dupeyron, Marie-Noëlle, Rollat-Farnier, Pierre-Antoine, Baker, Carl A, Sanlaville, Damien, Eichler, Evan E, Schluth-Bolard, Caroline, Reymond, Alexandre
Publicado 2021