Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.
Newman H et al.
Hemasphere, 2025
Does paired genetic testing improve targeted therapy choices and screening recommendations for patients with upper gastrointestinal cancers and their families? A prospective cohort of 42 patients.
Tatunay K et al.
Bmj Open, 2025
Whole-genome sequencing analysis identifies rare, large-effect noncoding variants and regulatory regions associated with circulating protein levels.
Hawkes G et al.
Nature Genetics, 2025
Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumoronly versus paired tumor-normal sequencing.
Newman H et al.
Haematologica, 2024
CSF3R P733T is a deleterious germline variant in acute leukaemia showing gain-of-function-like T618I mutation.
Sun H et al.
British Journal of Haematology, 2024
Genomic profiling of NSCLC tumors with the TruSight oncology 500 assay provides broad coverage of clinically actionable genomic alterations and detection of known and novel associations between genomic alterations, TMB, and PD-L1.
Wallen ZD et al.
Frontiers in Oncology, 2024
Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome.
Guijarro F et al.
Blood Advances, 2023
CSF3R T618I Collaborates With RUNX1-RUNX1T1 to Expand Hematopoietic Progenitors and Sensitizes to GLI Inhibition.
Swoboda AS et al.
Hemasphere, 2023
Leukaemic evolution of rare donor CSF3R germline mutation after umbilical cord blood transplant.
Arnautou P et al.
British Journal of Haematology, 2022
Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.
Avramović V et al.
Human Genomics, 2021
Germline variants drive myelodysplastic syndrome in young adults.
Feurstein S et al.
Leukemia, 2021
Efficacy of Low-Dose rhGM-CSF Treatment in a Patient With Severe Congenital Neutropenia Due to CSF3R Deficiency: Case Report of a Novel Biallelic CSF3R Mutation and Literature Review.
Zhou J et al.
Frontiers in Pediatrics, 2021
Heterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies.
Trottier AM et al.
Blood Advances, 2020
The Polygenic and Monogenic Basis of Blood Traits and Diseases.
Vuckovic D et al.
Cell, 2020
The clinical mutatome of core binding factor leukemia.
Opatz S et al.
Leukemia, 2020
R634W KIT Mutation in an Adult With Systemic Mastocytosis.
Astle JM et al.
Laboratory Medicine, 2017
A novel, somatic, transforming mutation in the extracellular domain of Epidermal Growth Factor Receptor identified in myeloproliferative neoplasm.
Casolari DA et al.
Scientific Reports, 2017
Chemo-genomic interrogation of CEBPA mutated AML reveals recurrent CSF3R mutations and subgroup sensitivity to JAK inhibitors.
Lavallée VP et al.
Blood, 2016
Role of CSF3R mutations in the pathomechanism of congenital neutropenia and secondary acute myeloid leukemia.
Klimiankou M et al.
Annals of the New York Academy of Sciences, 2016
GM-CSF stimulates granulopoiesis in a congenital neutropenia patient with loss-of-function biallelic heterozygous CSF3R mutations.
Klimiankou M et al.
Blood, 2015