D. B. Callaghan

Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction

Barry P. Young, Christopher J. R. Loewen, C. Rankin, 2019, Nature Communications.

Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability.

P. Pavlidis, S. Rogic, K. Haas, 2020, American journal of human genetics.

Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort

Powell Patrick Cheng Tan, Yingrui Li, P. Pavlidis, 2019, Clinical genetics.

An analysis of genetic variants associated with autism spectrum disorder : [supplementary material]

D. B. Callaghan, 2017 .

Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability.

P. Pavlidis, S. Rogic, K. Haas, 2020, American journal of human genetics.

Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort

Powell Patrick Cheng Tan, P. Pavlidis, S. Rogic, 2019, Clinical genetics.