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Nature Genetics|December 1, 1995
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2N H Robin, G J Feldman, A L Aronson, et al.Cell|May 12, 2015
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactionsDarío G Lupiáñez, Katerina Kraft, Verena Heinrich, et al.American Journal of Medical Genetics|January 1, 1981
The dup(3q) syndrome: report of eight cases and review of the literatureP Steinbach, W N Adkins, H Caspar, et al.Nature Genetics|February 7, 2012
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibilityDewi Astuti, Mark R Morris, Wendy N Cooper, et al.American Journal of Medical Genetics. Part A|February 1, 2017
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmusP Dunn, G P Prigatano, S Szelinger, et al.American Journal of Medical Genetics|October 26, 1999
Polytopic anomalies with agenesis of the lower vertebral columnA Bohring, S O Lewin, J F Reynolds, et al.Plos One|November 15, 2007
CD8+ T cells from SIV elite controller macaques recognize Mamu-B*08-bound epitopes and select for widespread viral variationJohn T Loffredo, Thomas C Friedrich, Enrique J León, et al.American Journal of Medical Genetics. Part A|November 24, 2004
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutationsJoyce So, Vanessa Suckow, Zofia Kijas, et al.Nature Genetics|March 2, 2011
Mutations in the pre-replication complex cause Meier-Gorlin syndromeLouise S Bicknell, Ernie M H F Bongers, Andrea Leitch, et al.American Journal of Human Genetics|June 25, 2011
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiencyAlan F Rope, Kai Wang, Rune Evjenth, et al.Pageof 34