Associated Papers
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.
Cope HL et al.
Nature Medicine, 2025
40913169 (PubMed )
Supplement: 41591_2025_3945_MOESM3_ESM.xlsx › Sheet1
Evolutionary history of human colitis-associated colorectal cancer.
Baker AM et al.
Gut, 2019
29991641 (PubMed )
Supplement: gutjnl-2018-316191supp005.xlsx › UC07
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Carvill GL et al.
Nature Genetics, 2013
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