npj Genomic Medicine

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

Michelle M. Clark, Zornitza Stark, Lauge Farnaes et al. · 2018 · 640 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

Lauge Farnaes, Amber Hildreth, Nathaly M. Sweeney et al. · 2018 · 455 citations · Full text

Life Sciences, Genetics, Pediatrics +14

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling et al. · 2016 · 377 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

Pamela Feliciano, Xueya Zhou, Irina Astrovskaya et al. · 2019 · 275 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese

Chun-Yu Wei, Jenn-Hwai Yang, Erh‐Chan Yeh et al. · 2021 · 268 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17