A dyadic approach to the delineation of diagnostic entities in clinical genomicsLeslie G. Biesecker, Yuri A. Zárate, Katta M. Girisha et al.|The American Journal of Human Genetics|2021Cited by 116
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndromeSarah E. Sheppard, Brian Hon‐Yin Chung, Ian M. Campbell et al.|American Journal of Medical Genetics Part A|2021Cited by 72
<i>ALG13</i> X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypesHind Alsharhan, Andrew K. Sobering, Miao He et al.|Journal of Inherited Metabolic Disease|2021Cited by 29
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
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