Publications

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2019
Rafehi, H. et al. Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS. Am J Hum Genet 105, 151-165 (2019).
Amor, D. J. et al. Pathogenic Variants in GPC4 Cause Keipert Syndrome. Am J Hum Genet 104, 914-924 (2019).
2014
Kaiser, F. J. et al. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet 23, 2888-900 (2014).