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Lista de obras de Beth A Pitel

A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype.

artículo científico publicado en 2017

Acute leukemias harboring KMT2A/MLLT10 fusion: a 10-year experience from a single genomics laboratory

scientific article published on 19 March 2019

Characterization of a cryptic rearrangement in a case of mantle cell lymphoma with negative FISH studies

artículo científico publicado en 2019

Clinical utility of fluorescence in situ hybridization-based diagnosis of BCR-ABL1 like (Philadelphia chromosome like) B-acute lymphoblastic leukemia

artículo científico publicado en 2020

Constitutional chromosome rearrangements that mimic the 2017 world health organization "acute myeloid leukemia with recurrent genetic abnormalities": A study of three cases and review of the literature

artículo científico publicado en 2018

Cryptic ETV6-PDGFRB fusion in a highly complex rearrangement of chromosomes 1, 5, and 12 due to a chromothripsis-like event in a myelodysplastic syndrome/myeloproliferative neoplasm

scientific article published on 11 July 2018

Detection of a cryptic NUP214/ABL1 gene fusion by mate-pair sequencing (MPseq) in a newly diagnosed case of pediatric T-lymphoblastic leukemia.

artículo científico publicado en 2019

Elucidating a false-negative MYC break-apart fluorescence in situ hybridization probe study by next-generation sequencing in a patient with high-grade B-cell lymphoma with IGH/MYC and IGH/BCL2 rearrangements.

artículo científico publicado en 2019

Mate pair sequencing improves detection of genomic abnormalities in acute myeloid leukemia

artículo científico publicado en 2018

Mate pair sequencing outperforms fluorescence in situ hybridization in the genomic characterization of multiple myeloma

scientific article published on 16 December 2019

RNA sequencing identifies a novel USP9X-USP6 promoter swap gene fusion in a primary aneurysmal bone cyst

scientific article published on 06 March 2019

SVAtools for junction detection of genome-wide chromosomal rearrangements by mate-pair sequencing (MPseq).

artículo científico publicado en 2017

Use of mate-pair sequencing to characterize a complex cryptic BCR/ABL1 rearrangement observed in a newly diagnosed case of chronic myeloid leukemia

artículo científico publicado en 2018

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