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Human Molecular Genetics|April 17, 2015
Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomaliesRama Rao Damerla, Cheng Cui, George C Gabriel, et al.Plos Genetics|October 31, 2014
De novo mutations in moderate or severe intellectual disabilityFadi F Hamdan, Myriam Srour, Jose-Mario Capo-Chichi, et al.Journal of Medical Genetics|February 5, 2015
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduriaJosé-Mario Capo-Chichi, Sarah Boissel, Edna Brustein, et al.Plos Genetics|April 13, 2018
Global characterization of copy number variants in epilepsy patients from whole genome sequencingJean Monlong, Simon L Girard, Caroline Meloche, et al.Obesity (Silver Spring, Md.)|January 16, 2010
Analysis of the SIM1 contribution to polygenic obesity in the French populationMaya Ghoussaini, Fanny Stutzmann, Cyril Couturier, et al.American Journal of Preventive Medicine|February 13, 2022
Effects of a Digital Diabetes Prevention Program: An RCTJeffrey A Katula, Emily V Dressler, Carol A Kittel, et al.Annals of Neurology|June 27, 2009
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsyFadi F Hamdan, Amélie Piton, Julie Gauthier, et al.Science (New York, N.Y.)|March 27, 2004
G protein-coupled receptor-dependent development of human frontal cortexXianhua Piao, R Sean Hill, Adria Bodell, et al.Translational Behavioral Medicine|March 7, 2021
Using a population health management approach to enroll participants in a diabetes prevention trial: reach outcomes from the PREDICTS randomized clinical trialKathryn E Wilson, Tzeyu L Michaud, Fabio A Almeida, et al.Human Genetics|November 6, 2019
Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotypePrzemyslaw Szafranski, Qian Liu, Justyna A Karolak, et al.Pageof 50