Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions
GENETICS IN MEDICINE
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions
GENETICS IN MEDICINE
Highly sensitive blocker displacement amplification and droplet digital PCR reveal very low-level parental FOXF1 somatic mosaicism in families with ACDMPV
THE JOURNAL OF MOLECULAR DIAGNOSTICS
A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins.
AMERICAN JOURNAL OF MEDICAL GENETICS
A preexisting rare PIK3CAE545K subpopulation confers clinical resistance to MEK plus CDK4/6 inhibition in NRAS melanoma and is dependent on S6K1 signaling.
CANCER DISCOVERY
Multiplexed enrichment of rare DNA variants via sequence-selective and temperature-robust amplification.
NATURE BIOMEDICAL ENGINEERING
Optimizing the specificity of nucleic acid hybridization.
NATURE CHEMISTRY