Publication Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Publication The impact of participation in genetic research for families with cleft lip with and without cleft palate: a qualitative study.
Publication Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood.
Publication Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).
Publication Comparing indicators of health and development of singleton young adults conceived with and without assisted reproductive technology.
