Alicia B. Byrne

The paper evaluates incomplete penetrance in 4,325 rare disease families, finding 1.6% of diagnosed cases involve inherited variants from unaffected parents and showing divergent transcriptional effects in CHD8-related cases.

The paper identifies ABI2 missense variants linked to neurodevelopmental disorders with intellectual disability, epilepsy, and brain malformations through exome sequencing.

The paper calibrates three new computational tools for clinical variant classification, finding they provide evidence strength comparable to previously recommended tools.

The paper curates 111 gene-disease relationships for syndromic disorders, classifying their clinical validity and identifying gaps in knowledge.

The paper assesses rare missense variants in genome sequences using PP3/BP4 evidence strength classifications and finds few variants meet strong or moderate criteria.

The paper reports a rare splice-site variant in TNNT2 found in Oceanian ancestry individuals, highlighting the need for diverse genomic datasets to avoid misclassification of variants.

The paper refines ACMG/AMP splicing variant classification codes using empirical evidence to improve consistency in variant pathogenicity classification.

The paper calibrates computational tools for missense variant pathogenicity classification and provides evidence-based revisions to PP3/BP4 ACMG/AMP criteria.

The paper describes the role of the Centers for Mendelian Genomics in advancing gene discovery through data sharing, collaboration, and resource development over the past decade.