Publications

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Author Title [ Year(Asc)]
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2021
Khayat, M. M. et al. Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. Hum Mutat 42, 577-591 (2021).
2020
Sabo, A. et al. Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability. Mol Genet Genomic Med 8, e1439 (2020).
Yin, J. et al. Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression. Genes (Basel) 11, (2020).
2019
Chiang, T. et al. Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med 21, 2135-2144 (2019).
Li, A. H. et al. Genetic architecture of laterality defects revealed by whole exome sequencing. Eur J Hum Genet 27, 563-573 (2019).