A dyadic approach to the delineation of diagnostic entities in clinical genomicsLeslie G. Biesecker, Yuri A. Zárate, John C. Carey et al.|The American Journal of Human Genetics|2021Cited by 116
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphologyAndrew K. Sobering, Elizabeth Bhoj, Laura Bryant et al.|Human Genetics and Genomics Advances|2022Cited by 26
Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe diseaseAnne Chun‐Hui Tsai, Lee‐Jun C. Wong, Yu‐Wen Hung et al.|American Journal of Medical Genetics Part A|2017Cited by 21
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphologyAndrew K. Sobering, Elizabeth Bhoj, Laura Bryant et al.|Human Genetics and Genomics Advances|2022Cited by 8