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
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_15
Imetelstat-mediated alterations in fatty acid metabolism to induce ferroptosis as a therapeutic strategy for acute myeloid leukemia.
Bruedigam C et al.
Nature Cancer, 2024
37904045 (PubMed )
Supplement: 43018_2023_653_MOESM22_ESM.xlsx › Extended_Data_Fig._9c_HemePACT
Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.
Fagius J et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2023
37460866 (PubMed )
Supplement: 10286_2023_963_MOESM2_ESM.xlsx › Variants
BMX kinase mediates gilteritinib resistance in FLT3-mutated AML through microenvironmental factors.
Buelow DR et al.
Blood Advances, 2022
35797240 (PubMed )
Supplement: advancesADV2022007952-suppl2.xlsx › Suppl_table_7
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
Wagener R et al.
European Journal of Human Genetics : Ejhg, 2021
33840814 (PubMed )
Supplement: 41431_2021_878_MOESM2_ESM.xlsx › Table_S3
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 2018
29945233 (PubMed )
Supplement: bty518_supplementary_data_s7.xlsx › TP_Mutations
Somatic Tumor Mutations Detected by Targeted Next Generation Sequencing in Minute Amounts of Serum-Derived Cell-Free DNA.
Weerts MJA et al.
Scientific Reports, 2017
Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation: Correspondence.
Negri G et al.
Indian Journal of Pediatrics, 2017
Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders.
Holt R et al.
Human Genetics, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.
Yoo HJ et al.
International Journal of Molecular Sciences, 2015
Inheritance and variable expression in Rubinstein-Taybi syndrome.
Bartsch O et al.
American Journal of Medical Genetics. Part A, 2010
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