Terence Wong

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

John Reynders, Martin G. Reese, Patrick Mulrooney, 2019, Science Translational Medicine.

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.

Kiely N. James, S. Kingsmore, M. Bainbridge, 2019, American journal of human genetics.

Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation

S. Chowdhury, J. Friedman, Lisa Salz, 2020, BMC Neurology.

An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.

Kiely N. James, S. Kingsmore, M. Bainbridge, 2020, American journal of human genetics.

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

Francisco M. De La Vega, Kiely N. James, S. Kingsmore, 2021, Genome Medicine.

Artificial Intelligence in the Genetic Diagnosis of Rare Disease.

Kiely N. James, Sujal Phadke, Terence C. Wong, 2020, Clinics in laboratory medicine.

Expanding the phenotypic and molecular spectrum of NFS1‐related disorders that cause functional deficiencies in mitochondrial and cytosolic iron–sulfur cluster containing enzymes

D. Koboldt, R. Hegele, S. Farhan, 2022, Human mutation.