Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.
Cao K et al.
Hereditary Cancer in Clinical Practice, 2023
A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.
Hoyer K et al.
Ebiomedicine, 2021
33862582 (PubMed )
Supplement: mmc3.xlsx › S5
Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4/BMPR1A Variant.
MacFarland SP et al.
Cancer Prevention Research (philadelphia, Pa.), 2021
Contribution of allelic imbalance to colorectal cancer.
Palin K et al.
Nature Communications, 2018
30202008 (PubMed )
Supplement: 41467_2018_6132_MOESM11_ESM.xlsx › Somatic_mutations_in_234_MSS_CR
Genomic alterations accompanying tumour evolution in colorectal cancer: tracking the differences between primary tumours and synchronous liver metastases by whole-exome sequencing.
Mogensen MB et al.
Bmc Cancer, 2018
30029640 (PubMed )
Supplement: 12885_2018_4639_MOESM1_ESM.xlsx › Ark1
Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation.
Schwenter F et al.
Journal of Gastroenterology, 2012
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