M. Pilorge

发表

Functional impact of global rare copy number variation in autism spectrum disorders

Gary D Bader, Joseph T. Glessner, Stephen J. Guter, 2010, Nature.

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

Stephen J. Guter, Emily L. Crawford, D. Pinto, 2014, American journal of human genetics.

Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism

R. Delorme, C. Gillberg, M. Leboyer, 2016, Molecular Psychiatry.

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother

Richard Delorme, Alain Verloes, Marion Leboyer, 2012, European Journal of Human Genetics.

Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis

M. Pilorge, C. Betancur, A. Verloes, 2010, American journal of medical genetics. Part A.

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

Christopher Gillberg, Richard Delorme, Alain Verloes, 2015, Molecular Autism.

Haploinsufficiency of Cyfip1 Produces Fragile X-Like Phenotypes in Mice

M. Pilorge, J. Buxbaum, T. Sakurai, 2012, PloS one.

Association of HLA DR4 with the risk of recurrence of pregnancy hypertension.

M. Pilorge, R. Fauchet, B. Genetet, 1988, Kidney international. Supplement.

A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region

Joseph T. Glessner, J. Glessner, H. Hakonarson, 2010, Molecular autism.