Associated Papers
The curious case of a heterozygous loss-of-function PSEN1 variant associated with early-onset Alzheimer's disease.
Sanjuan-Ruiz I et al.
Molecular Neurodegeneration Advances, 2025
41127441 (PubMed )
Supplement: 44477_2025_4_MOESM2_ESM.xlsx › Sheet1
Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.
Heft Neal ME et al.
Bmc Cancer, 2021
34051734 (PubMed )
Supplement: 12885_2021_8370_MOESM16_ESM.xlsx › Sheet1
Functional and genomic characterization of patient-derived xenograft model to study the adaptation to mTORC1 inhibitor in clear cell renal cell carcinoma.
Sakamoto H et al.
Cancer Medicine, 2021
Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.
Bhattacharya S et al.
Genome Research, 2018
29567674 (PubMed )
Supplement: supp_gr.223693.117_Supplemental_Table_S8.xls › Indels_Exonic
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › a__Freq_TP094
Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.
Kim YC et al.
Plos One, 2017
28076423 (PubMed )
Supplement: pone.0167581.s005.xlsx › 24_Caucasian_controls
Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.
Alsalem AB et al.
Plos Genetics, 2013
24367280 (PubMed )
Supplement: pgen.1004030.s004.xlsx › Sheet1
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