Associated Papers
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.
De Rubeis S et al.
Molecular Autism, 2018
29719671 (PubMed )
Supplement: 13229_2018_205_MOESM1_ESM.xlsx › Table_S1
VaRank: a simple and powerful tool for ranking genetic variants.
Geoffroy V et al.
Peerj, 2015
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C et al.
Journal of Medical Genetics, 2014
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