Associated Papers
Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.
Öfverholm I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
38573684 (PubMed )
Supplement: ccr-24-0384_supplementary_data_6_suppts6.xlsx › Sheet1
National Rapid Genome Sequencing in Neonatal Intensive Care.
Marom D et al.
Jama Network Open, 2024
38386321 (PubMed )
Supplement: jamanetwopen-e240146-s002.xlsx › eTable_2
INTU-related oral-facial-digital syndrome XVII: Clinical spectrum of a rare disorder.
Yakar O et al.
American Journal of Medical Genetics. Part A, 2022
Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis.
Walczak-Sztulpa J et al.
Frontiers in Genetics, 2022
High-risk follicular lymphomas harbour more somatic mutations including those in the AID-motif.
Tsukamoto T et al.
Scientific Reports, 2017
29070849 (PubMed )
Supplement: 41598_2017_14150_MOESM2_ESM.xlsx › Sheet1
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
Toriyama M et al.
Nature Genetics, 2016
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
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