Sporadic autism exomes reveal a highly interconnected protein network of de novo mutationsBrian J. O’Roak, Evan E. Eichler|Nature|2012Cited by 2.2k
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with AutismStephan Sanders, Shrikant Mane, Emily L. Crawford et al.|Neuron|2011Cited by 1.3k
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromesJean-Baptiste Rivière, William B. Dobyns, Ghayda Mirzaa et al.|Nature Genetics|2012Cited by 752
L-Histidine Decarboxylase and Tourette's SyndromeA. Gulhan Ercan‐Sencicek, Matthew W. State, Althea Stillman et al.|New England Journal of Medicine|2010Cited by 370
Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic DystrophyKarina Tuz, Russell J. Ferland, Ruxandra Bachmann‐Gagescu et al.|The American Journal of Human Genetics|2013Cited by 113