Associated Papers
Divergent molecular pathways drive monomorphic epitheliotropic and enteropathy-associated intestinal T-cell lymphoma.
Vallois D et al.
Leukemia, 2026
41057685 (PubMed )
Supplement: 41375_2025_2777_MOESM2_ESM.xlsx › S1-WES_mutations_table
Whole exome sequencing identifies novel inherited genetic variants in tetralogy of Fallot.
Pan Y et al.
Journal of Thoracic Disease, 2022
A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.
Peng L et al.
Cell Death & Disease, 2022
35459861 (PubMed )
Supplement: 41419_2022_4844_MOESM4_ESM.xlsx › Supplementary_Table_3
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
Zernant J et al.
Plos Genetics, 2022
35353811 (PubMed )
Supplement: pgen.1010129.s001.xlsx › Sheet1
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.
Broutier L et al.
Nature Medicine, 2017
29131160 (PubMed )
Supplement: NIHMS74480-supplement-Supplementary_Dataset_4.xlsx › S10_CC-1_coding_Indels
The driver landscape of sporadic chordoma.
Tarpey PS et al.
Nature Communications, 2017
29026114 (PubMed )
Supplement: 41467_2017_1026_MOESM5_ESM.xlsx › ST2
Photoreceptor Cilia and Retinal Ciliopathies.
Bujakowska KM et al.
Cold Spring Harbor Perspectives in Biology, 2017
Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.
Daiger SP et al.
Cold Spring Harbor Perspectives in Medicine, 2014
A monogenic dominant mutation in Rom1 generated by N-ethyl-N-nitrosourea mutagenesis causes retinal degeneration in mice.
Sato H et al.
Molecular Vision, 2010
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
Sullivan LS et al.
Investigative Ophthalmology & Visual Science, 2006
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