Back

Tiny Babies, Big Data: ICD Billing Code Patterns in Neonates Diagnosed with Genetic Disease in the Neonatal Intensive Care Unit

2026-02-11 genetic and genomic medicine Title + abstract only
View on medRxiv
Show abstract

PurposeGenetic diseases often present and are first diagnosed in the neonatal intensive care unit (NICU). Accurate identification of neonates with genetic diagnoses (GDs) in electronic health records (EHR) would enable a more complete understanding of their phenotypic spectrum, advancing care and personalized medicine. Prior research has used International Classification of Diseases (ICD) billing codes as proxies for GDs, though their accuracy for detecting confirmed GDs is uncertain. We evaluat...

Predicted journal destinations

1
Genetics in Medicine
57 training papers
Top 0.4% 21.9%
2
The American Journal of Human Genetics
77 training papers
Top 3% 6.3%
3
Scientific Reports
701 training papers
Top 39% 6.3%
4
Genome Medicine
56 training papers
Top 2% 5.0%
5
Nature Communications
483 training papers
Top 23% 5.0%
6
PLOS ONE
1737 training papers
Top 85% 4.1%
7
Journal of Medical Genetics
22 training papers
Top 0.2% 3.8%
8
Journal of the American Heart Association
92 training papers
Top 7% 3.8%
9
European Journal of Human Genetics
25 training papers
Top 0.5% 3.8%
10
Journal of the American Medical Informatics Association
53 training papers
Top 5% 3.5%
11
Nature Genetics
72 training papers
Top 6% 1.9%
12
Human Genetics and Genomics Advances
39 training papers
Top 4% 1.9%
13
Human Molecular Genetics
28 training papers
Top 3% 1.5%
14
Circulation: Genomic and Precision Medicine
30 training papers
Top 5% 1.5%
15
PLOS Genetics
39 training papers
Top 5% 1.5%
16
npj Genomic Medicine
18 training papers
Top 0.9% 1.5%
17
Cell Genomics
34 training papers
Top 5% 1.3%
18
BMJ Open
553 training papers
Top 57% 1.3%
19
Circulation
37 training papers
Top 5% 1.3%
20
Genes
21 training papers
Top 2% 1.3%
21
Frontiers in Genetics
32 training papers
Top 7% 0.9%
22
International Journal of Obesity
17 training papers
Top 2% 0.9%
23
Archives of Disease in Childhood
15 training papers
Top 2% 0.9%
24
JAMA Network Open
125 training papers
Top 31% 0.7%
25
Heart Rhythm
16 training papers
Top 5% 0.7%
26
Bioinformatics
24 training papers
Top 4% 0.7%
27
npj Digital Medicine
85 training papers
Top 21% 0.7%