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American Journal of Medical Genetics. Part A|September 17, 2015
Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disabilityTina T Ling, Susanna SorrentinoCold Spring Harbor Molecular Case Studies|November 23, 2017
De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autismAkemi J Tanaka, Megan T Cho, Rebecca Willaert, et al.Journal of Medical Genetics|May 12, 2012
OTX2 mutations contribute to the otocephaly-dysgnathia complexNicolas Chassaing, Susanna Sorrentino, Erica E Davis, et al.Pageof 1