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ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model

Antonio Vitobello, Benoît Mazel, Vera G. Lelianova, Alice Zangrandi, Evelina Petitto, Jason Suckling, Vincenzo Salpietro, Robert E. Meyer, Miriam Elbracht, Ingo Kurth, Thomas Eggermann, Ouafa Benlaouer, Gurprit S. Lall, Alexander Tonevitsky, Daryl A. Scott, Katie Chan, Jill A. Rosenfeld, Sophie Nambot, Hana Safraou, Ange‐Line Bruel, Anne‐Sophie Denommé‐Pichon, Frédéric Tran Mau‐Them, Christophe Philippe, Yannis Duffourd, Hui Guo, Andrea Petersen, Leslie Granger, Amy Crunk, Allan Bayat, Pasquale Striano, Federico Zara, Marcello Scala, Quentin Thomas, Andrée Delahaye‐Duriez, Jean‐Madeleine de Sainte Agathe, Julien Buratti, Serguei Kozlov, Laurence Faivre, Christel Thauvin‐Robinet, Yuri A. Ushkaryov

2022The American Journal of Human Genetics44 citationsDOIOpen Access PDF

Topics & Concepts

HaploinsufficiencyNeuroscienceVariable (mathematics)PsychologyBiologyGeneticsPhenotypeGeneMathematicsMathematical analysisGenetics and Neurodevelopmental DisordersMitochondrial Function and PathologyUbiquitin and proteasome pathways
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model | Litcius