Associated Papers
Exome sequencing of patients with syndromic tall stature reveals four novel candidate genes.
Kim GJ et al.
Endocrine Connections, 2025
40577202 (PubMed )
Supplement: supplementary_materials.pdf
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
37010288 (PubMed )
Supplement: supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx › S4
Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.
Au KS et al.
Scientific Reports, 2021
33574475 (PubMed )
Supplement: 41598_2021_83058_MOESM1_ESM.xlsx › Supplementary_Table_3
Genomic analysis of smoothened inhibitor resistance in basal cell carcinoma.
Sharpe HJ et al.
Cancer Cell, 2015
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