Associated Papers
Identification of Clonal Hematopoiesis Driver Mutations through In Silico Saturation Mutagenesis.
Demajo S et al.
Cancer Discovery, 2024
38722595 (PubMed )
Supplement: cd-23-1416_supplementary_table_s3_suppst3.xlsx › Supplemental_table_drivers
Human ASXL1-Mutant Hematopoiesis Is Driven by a Truncated Protein Associated with Aberrant Deubiquitination of H2AK119.
Köhnke T et al.
Blood Cancer Discovery, 2024
38359087 (PubMed )
Supplement: bcd-23-0235_supplementary_figures_s1_-_s11_suppsf1.pdf
TET2-Driven Clonal Hematopoiesis and Response to Canakinumab: An Exploratory Analysis of the CANTOS Randomized Clinical Trial.
Svensson EC et al.
Jama Cardiology, 2022
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Hyder Z et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
34429528 (PubMed )
Supplement: EMS138012-supplement-Table_S3.xlsx › Sheet1
The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.
Urreizti R et al.
Clinical Case Reports, 2018
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Grozeva D et al.
Human Mutation, 2015
26350204 (PubMed )
Supplement: HUMU-36-1197-s001.pdf
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