Ghia P

Disease-specific U1 spliceosomal RNA mutations in mature B-cell neoplasms.

Nadeu F, Shuai S, Clot G, ..., Puente XS, Campo E

Leukemia 39 (9) 2076-2086 [2025-09-00; online 2025-06-30]

NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

The non-canonical BAF chromatin remodeling complex is a novel target of spliceosome dysregulation in SF3B1-mutated chronic lymphocytic leukemia.

Hägerstrand D, Oder B, Cortese D, ..., Sutton LA, Rosenquist R

Leukemia 38 (11) 2429-2442 [2024-11-00; online 2024-09-11]

Bioinformatics Support for Computational Resources [Service] Global Proteomics and Proteogenomics [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

BTK and PLCG2 remain unmutated in one-third of patients with CLL relapsing on ibrutinib.

Bonfiglio S, Sutton LA, Ljungström V, ..., Rosenquist R, Ghia P

Blood Adv 7 (12) 2794-2806 [2023-06-27; online 2023-01-26]

Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]

Secondary resistance to idelalisib is characterized by upregulation of IGF1R rather than by MAPK/ERK pathway mutations.

Tausch E, Ljungström V, Agathangelidis A, ..., Rosenquist R, Stilgenbauer S

Blood 139 (22) 3340-3344 [2022-06-02; online 2022-04-05]

Clinical Genomics [Service] Clinical Genomics Uppsala [Service]