Associated Papers
Genetic and clinical spectrum of early growth response 2-related Charcot-Marie-Tooth disease in a Brazilian cohort.
Cavalcanti EBU et al.
Arquivos De Neuro-psiquiatria, 2025
All-CLL: A Capture-based Next-generation Sequencing Panel for the Molecular Characterization of Chronic Lymphocytic Leukemia.
López-Oreja I et al.
Hemasphere, 2023
37746159 (PubMed )
Supplement: hs9-7-e962-s002.xlsx › Table_S7
Different prognostic impact of recurrent gene mutations in chronic lymphocytic leukemia depending on IGHV gene somatic hypermutation status: a study by ERIC in HARMONY.
Mansouri L et al.
Leukemia, 2023
Characterization of clonal immunoglobulin heavy V-D-J gene rearrangements in Chinese patients with chronic lymphocytic leukemia: Clinical features and molecular profiles.
Deng X et al.
Frontiers in Oncology, 2023
36874132 (PubMed )
Supplement: Table_1.xlsx › Sheet1
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2
IGH Translocations in Chinese Patients With Chronic Lymphocytic Leukemia: Clinicopathologic Characteristics and Genetic Profile.
Li Q et al.
Frontiers in Oncology, 2022
35720006 (PubMed )
Supplement: Table_2.xlsx › Sheet1
Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.
Bruscaggin A et al.
Blood Advances, 2021
34500472 (PubMed )
Supplement: advancesADV2021004528-suppl2.xlsx › Table_S7
Multiregional sequencing and circulating tumour DNA analysis provide complementary approaches for comprehensive disease profiling of small lymphocytic lymphoma.
Moia R et al.
British Journal of Haematology, 2021
34291829 (PubMed )
Supplement: BJH-195-108-s003.xlsx › Table_S2
Immunological and genetic kinetics from diagnosis to clinical progression in chronic lymphocytic leukemia.
Jiménez I et al.
Biomarker Research, 2021
34016160 (PubMed )
Supplement: 40364_2021_290_MOESM1_ESM.zip › renamed_27ef3.xlsx › Suplementary_table_3
Genomic mutation profile in progressive chronic lymphocytic leukemia patients prior to first-line chemoimmunotherapy with FCR and rituximab maintenance (REM).
González-Rincón J et al.
Plos One, 2021
34506616 (PubMed )
Supplement: pone.0257353.s001.xlsx › Table_S3._SNVs
Bi-allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2-NAB complex.
Lupo V et al.
European Journal of Neurology, 2020
Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.
Hsu YH et al.
Annals of Clinical and Translational Neurology, 2019
Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia.
Nadeu F et al.
Leukemia, 2018
28924241 (PubMed )
Supplement: leu2017291x1.pdf
The evolutionary landscape of chronic lymphocytic leukemia treated with ibrutinib targeted therapy.
Landau DA et al.
Nature Communications, 2017
29259203 (PubMed )
Supplement: 41467_2017_2329_MOESM4_ESM.xlsx › Supplementary_Data_2
EGR2 mutations define a new clinically aggressive subgroup of chronic lymphocytic leukemia.
Young E et al.
Leukemia, 2017
Mutations driving CLL and their evolution in progression and relapse.
Landau DA et al.
Nature, 2015
26466571 (PubMed )
Supplement: NIHMS715090-supplement-Supplementary_Table_3.xlsx › mutation_annotation_file_538_co
Acquired initiating mutations in early hematopoietic cells of CLL patients.
Damm F et al.
Cancer Discovery, 2014
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