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Genomic Characterization of a Metastatic Alveolar Rhabdomyosarcoma Case Using FISH Studies and CGH+SNP Microarray Revealing FOXO1-PAX7 Rearrangement with MYCN and MDM2 Amplification and RB1 Region Loss.
Karunamurthy A, Hoffner L, Hu J, Shaw P, Ranganathan S, Yatsenko SA, Surti U. Karunamurthy A, et al. Among authors: hoffner l. Cytogenet Genome Res. 2016;150(3-4):253-261. doi: 10.1159/000458167. Epub 2017 Mar 3. Cytogenet Genome Res. 2016. PMID: 28253504
Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea.
Liao J, Coffman KA, Locker J, Padiath QS, Nmezi B, Filipink RA, Hu J, Sathanoori M, Madan-Khetarpal S, McGuire M, Schreiber A, Moran R, Friedman N, Hoffner L, Rajkovic A, Yatsenko SA, Surti U. Liao J, et al. Among authors: hoffner l. Mol Genet Genomic Med. 2021 Apr;9(4):e1647. doi: 10.1002/mgg3.1647. Epub 2021 Mar 5. Mol Genet Genomic Med. 2021. PMID: 33666368 Free PMC article.
43 results