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Science (New York, N.Y.)|March 16, 2019
RIT1 oncoproteins escape LZTR1-mediated proteolysisPau Castel, Alice Cheng, Antonio Cuevas-Navarro, et al.
Molecular Genetics & Genomic Medicine|November 28, 2017
Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysisMaja Sukalo, Eva Schäflein, Ina Schanze, et al.
Cytogenetic and Genome Research|July 27, 2023
Large Chromosome 2p Duplication-Associated Mechanisms and Clinical PresentationsXiaolan Fang, Benjamin Hilton, Katie Clarkson, et al.
American Journal of Medical Genetics. Part A|February 5, 2003
Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated familiesRavi Savarirayan, Susan M White, Frances R Goodman, et al.
Ophthalmic Genetics|November 28, 2009
Microcephaly and congenital grouped pigmentation of the retinal pigment epithelium associated with submicroscopic deletions of 13q33.3-q34 and 11p15.4Ajaz M Siddiqui, David B Everman, R Curtis Rogers, et al.
Archives of Neurology|February 10, 2010
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromesBulent Kurt, Jaak Jaeken, Johan Van Hove, et al.
American Journal of Medical Genetics. Part A|August 4, 2022
Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndromeJessica A Cooley Coleman, Timothy Fee, Renee Bend, et al.
American Journal of Medical Genetics. Part A|May 13, 2006
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the regionRobert Lyle, Uppala Radhakrishna, Jean-Louis Blouin, et al.
European Journal of Human Genetics : EJHG|June 2, 2011
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)Christine M Armour, Dennis E Bulman, Olga Jarinova, et al.
Human Mutation|September 6, 2018
The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-functionMartina Proietti Onori, Balwina Koopal, David B Everman, et al.
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