Publications

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

GENETICS IN MEDICINE

Gambin, T., …Xie, N.G., Wu L.R., Yan, Y.H., … Zhang, D.Y.,… Stankiewicz, P.

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

Karolak, J.A., Liu, Q., Xie, N.G., Wu L.R., …, Zhang, D.Y., Stankiewicz P.

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

Karolak, J.A., Bacolla, A., Liu, Q., Lantz, P.E., …, Zhang, D.Y., & Stankiewicz, P.

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

Romano, G., Chen, P.L., Song, P., McQuade, J.L., …, Wargo, J.A., & Kwong, L.N.

Multiplexed enrichment of rare DNA variants via sequence-selective and temperature-robust amplification.

NATURE BIOMEDICAL ENGINEERING

Wu, L.R., Chen, S.X., Wu, Y., Patel, A.A., & Zhang, D.Y.

Optimizing the specificity of nucleic acid hybridization.

NATURE CHEMISTRY

Zhang, D. Y., Chen, S. X., & Yin, P.