Lauge Farnaes

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

Zornitza Stark, Tiong Y Tan, Susan M White, 2018, npj Genomic Medicine.

Anthracyclines and Anthracenediones

Nicole G. Coufal, N. Coufal, L. Farnaes, 2011 .

Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage

Shimul Chowdhury, Kiely N. James, S. Kingsmore, 2018, Cold Spring Harbor molecular case studies.

Concomitant diagnosis of immune deficiency and Pseudomonas sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing

Serge Batalov, S. Kingsmore, M. Bainbridge, 2018, Cold Spring Harbor molecular case studies.

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.

Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1

Stephen F. Kingsmore, Michael Gottschalk, Nicole G. Coufal, 2018, Cold Spring Harbor molecular case studies.