Shuxiang Goh

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

Frédérick A. Mallette, Dagmar Glatz, V. Aggarwal, 2020, Genetics in Medicine.

Expanding the phenotype of Bruck syndrome: Severe limb deformity, arthrogryposis, congenital cardiac disease and pulmonary hemorrhage

C. Munns, S. Rajagopalan, J. Sandy, 2022, American journal of medical genetics. Part A.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Benzyne Formation in the Mechanism-Based Inactivation of Cytochrome P450 by 1-Aminobenzotriazole and N-Benzyl-1-Aminobenzotriazole: Computational Insights

H. Hirao, Pratanphorn Chuanprasit, Shuxiang Goh, 2015 .

Clinically Responsive Genomic Analysis Pipelines: Elements to improve detection rate and efficiency.

S. Sandaradura, T. Roscioli, J. Fletcher, 2021, The Journal of molecular diagnostics : JMD.