<i>AGTR2</i> Mutations in X-Linked Mental RetardationVirginie Vervoort, Anand K. Srivastava, Michael A. Beachem et al.|Science|2002Cited by 719
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizuresAndrew J. Sharp, Evan E. Eichler, Zhaoshi Jiang et al.|Nature Genetics|2008Cited by 591
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexesRainer Ruf, Friedhelm Hildebrandt, Pin‐Xian Xu et al.|Proceedings of the National Academy of Sciences|2004Cited by 420
Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) GeneCharles E. Schwartz, Roger E. Stevenson, Melanie May et al.|The American Journal of Human Genetics|2005Cited by 369
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative RhoRac guanine nucleotide exchange factorN.German Pasteris, Jerome L. Gorski, Amy B. Cadle et al.|Cell|1994Cited by 297