Bedrosian, Tracy A.; Miller, Katherine E.; Grischow, Olivia E.; Schieffer, Kathleen M.; LaHaye, Stephanie; Yoon, Hyojung; Miller, Anthony R.; Navarro, Jason; Westfall, Jesse; Leraas, Kristen; Choi, Samantha; Williamson, Rachel; Fitch, James; Kelly, Benjamin J.; White, Peter; Lee, Kristy; McGrath, Sean; Cottrell, Catherine E.; Magrini, Vincent; Leonard, Jeffrey; Pindrik, Jonathan; Shaikhouni, Ammar; Boue, Daniel R.; Thomas, Diana L.; Pierson, Christopher R.; Wilson, Richard K.; Ostendorf, Adam P.; Mardis, Elaine R.; Koboldt, Daniel C.

Acute lymphoblastic leukemia displays a distinct highly methylated genome

急性淋巴细胞白血病显示出独特的高度甲基化的基因组

NATURE CANCER

IF28.5

2022-05-1922

OAAI

Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly

HUMAN MUTATION

IF3.7

2021-12-169

Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas

具有新型MYC扩增的临床侵袭性小儿脊髓室管膜瘤显示出与新描述的MYCN扩增的脊髓室管膜瘤的分子和组织病理学相似性

ACTA NEUROPATHOLOGICA COMMUNICATIONS

IF5.7

2021-12-1111

Shatara, Margaret; Schieffer, Kathleen M.; Klawinski, Darren; Thomas, Diana L.; Pierson, Christopher R.; Sribnick, Eric A.; Jones, Jeremy; Rodriguez, Diana P.; Deeg, Carol; Hamelberg, Elizabeth; LaHaye, Stephanie; Miller, Katherine E.; Fitch, James; Kelly, Benjamin; Leraas, Kristen; Pfau, Ruthann; White, Peter; Magrini, Vincent; Wilson, Richard K.; Mardis, Elaine R.; Abdelbaki, Mohamed S.; Finlay, Jonathan L.; Boue, Daniel R.; Cottrell, Catherine E.; Ghasemi, David R.; Pajtler, Kristian W.; Osorio, Diana S.

Discovery of clinically relevant fusions in pediatric cancer

儿科癌症临床相关融合的发现

BMC GENOMICS

IF3.7

2021-12-0417

OAAI

LaHaye, Stephanie; Fitch, James R.; Voytovich, Kyle J.; Herman, Adam C.; Kelly, Benjamin J.; Lammi, Grant E.; Arbesfeld, Jeremy A.; Wijeratne, Saranga; Franklin, Samuel J.; Schieffer, Kathleen M.; Bir, Natalie; McGrath, Sean D.; Miller, Anthony R.; Wetzel, Amy; Miller, Katherine E.; Bedrosian, Tracy A.; Leraas, Kristen; Varga, Elizabeth A.; Lee, Kristy; Gupta, Ajay; Setty, Bhuvana; Boue, Daniel R.; Leonard, Jeffrey R.; Finlay, Jonathan L.; Abdelbaki, Mohamed S.; Osorio, Diana S.; Koo, Selene C.; Koboldt, Daniel C.; Wagner, Alex H.; Eisfeld, Ann-Kathrin; Mrozek, Krzysztof; Magrini, Vincent; Cottrell, Catherine E.; Mardis, Elaine R.; Wilson, Richard K.; White, Peter

Gastroblastoma with a novel EWSR1-CTBP1 fusion presenting in adolescence

GENES CHROMOSOMES & CANCER

IF2.8

2021-06-0718

PREAI

PTEN somatic mutations contribute to spectrum or cerebral overgrowth

BRAIN

IF11.7

2021-05-2821

OAAI

Novel morphologic findings in PLAG1-rearranged soft tissue tumors

GENES CHROMOSOMES & CANCER

IF2.8

2021-04-2915

PREAI

Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma

ACTA NEUROPATHOLOGICA COMMUNICATIONS

IF5.7

2021-04-077

OAAI

Schieffer, Kathleen M.; Feldman, Alexander Z.; Kautto, Esko A.; McGrath, Sean; Miller, Anthony R.; Hernandez-Gonzalez, Maria Elena; LaHaye, Stephanie; Miller, Katherine E.; Koboldt, Daniel C.; Brennan, Patrick; Kelly, Benjamin; Wetzel, Amy; Agarwal, Vibhuti; Shatara, Margaret; Conley, Suzanne; Rodriguez, Diana P.; Abu-Arja, Rolla; Shaikhkhalil, Ala; Snuderl, Matija; Orr, Brent A.; Finlay, Jonathan L.; Osorio, Diana S.; Drapeau, Annie I.; Leonard, Jeffrey R.; Pierson, Christopher R.; White, Peter; Magrini, Vincent; Mardis, Elaine R.; Wilson, Richard K.; Cottrell, Catherine E.; Boue, Daniel R.

A novel sialic acid-binding adhesin present in multiple species contributes to the pathogenesis of Infective endocarditis

PLOS PATHOGENS

IF4.9

2021-01-1912

OAAI

Sequence analysis in Bos taurus reveals pervasiveness of X-Y arms races in mammalian lineages

GENOME RESEARCH

IF5.5

2020-11-1831

OAAI

Genetic Characterization of Pediatric Sarcomas by Targeted RNA Sequencing

JOURNAL OF MOLECULAR DIAGNOSTICS