Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disordersDavid J. Roberts, John Danesh, Marta Di Forti et al.|Nature Neuroscience|2016Cited by 476
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencingThomas Pickardt, Alejandro Sifrim, Marc‐Phillip Hitz et al.|Nature Genetics|2016Cited by 467
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndromeCornelis A. Albers, Cédric Ghevaert, Dirk S. Paul et al.|Nature Genetics|2012Cited by 426
Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius SyndromeEva Klopocki, Stefan Mundlos, Harald Schulze et al.|The American Journal of Human Genetics|2007Cited by 369
Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 MutationsJennifer J. Johnston, Leslie G. Biesecker, Isabelle Olivos‐Glander et al.|The American Journal of Human Genetics|2005Cited by 277