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Tatton-Brown-Rahman syndrome: Six individuals with novel features.
Balci TB, Strong A, Kalish JM, Zackai E, Maris JM, Reilly A, Surrey LF, Wertheim GB, Marcadier JL, Graham GE, Carter MT. Balci TB, et al. Among authors: surrey lf. Am J Med Genet A. 2020 Apr;182(4):673-680. doi: 10.1002/ajmg.a.61475. Epub 2020 Jan 21. Am J Med Genet A. 2020. PMID: 31961069
Diagnosis of Beckwith-Wiedemann syndrome in children presenting with Wilms tumor.
MacFarland SP, Duffy KA, Bhatti TR, Bagatell R, Balamuth NJ, Brodeur GM, Ganguly A, Mattei PA, Surrey LF, Balis FM, Kalish JM. MacFarland SP, et al. Among authors: surrey lf. Pediatr Blood Cancer. 2018 Oct;65(10):e27296. doi: 10.1002/pbc.27296. Epub 2018 Jun 22. Pediatr Blood Cancer. 2018. PMID: 29932284 Free PMC article.
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Surrey LF, MacFarland SP, Chang F, Cao K, Rathi KS, Akgumus GT, Gallo D, Lin F, Gleason A, Raman P, Aplenc R, Bagatell R, Minturn J, Mosse Y, Santi M, Tasian SK, Waanders AJ, Sarmady M, Maris JM, Hunger SP, Li MM. Surrey LF, et al. Genome Med. 2019 May 28;11(1):32. doi: 10.1186/s13073-019-0644-8. Genome Med. 2019. PMID: 31133068 Free PMC article.
Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition.
MacFarland SP, Zelley K, Surrey LF, Gallo D, Luo M, Raman P, Wertheim G, Hunger SP, Li MM, Brodeur GM. MacFarland SP, et al. Among authors: surrey lf. JCO Precis Oncol. 2019;3:PO.19.00062. doi: 10.1200/po.19.00062. Epub 2019 Dec 16. JCO Precis Oncol. 2019. PMID: 32783018 Free PMC article.
NTRK Fusions Identified in Pediatric Tumors: The Frequency, Fusion Partners, and Clinical Outcome.
Zhao X, Kotch C, Fox E, Surrey LF, Wertheim GB, Baloch ZW, Lin F, Pillai V, Luo M, Kreiger PA, Pogoriler JE, Linn RL, Russo PA, Santi M, Resnick AC, Storm PB, Hunger SP, Bauer AJ, Li MM. Zhao X, et al. Among authors: surrey lf. JCO Precis Oncol. 2021 Jan 14;1:PO.20.00250. doi: 10.1200/PO.20.00250. eCollection 2021. JCO Precis Oncol. 2021. PMID: 34036219 Free PMC article.
Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas with gene expression and methylation patterns similar to CIC-rearranged sarcoma.
Xu F, Viaene AN, Ruiz J, Schubert J, Wu J, Chen J, Cao K, Fu W, Bagatell R, Fan Z, Long A, Pagliaroli L, Zhong Y, Luo M, Kreiger PA, Surrey LF, Wertheim GB, Cole KA, Li MM, Santi M, Storm PB. Xu F, et al. Among authors: surrey lf. Acta Neuropathol Commun. 2022 Jul 14;10(1):102. doi: 10.1186/s40478-022-01401-z. Acta Neuropathol Commun. 2022. PMID: 35836290 Free PMC article.
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.
Nriagu BN, Williams LS, Brewer N, Surrey LF, Srinivasan AS, Li D, Britt A, Treat J, Crowley TB, O'Connor N, Ganguly A, Low D, Queenan M, Drivas TG, Zackai EH, Adams DM, Hakonarson H, Snyder KM, Sheppard SE. Nriagu BN, et al. Among authors: surrey lf. Am J Med Genet A. 2024 Jan;194(1):64-69. doi: 10.1002/ajmg.a.63385. Epub 2023 Sep 13. Am J Med Genet A. 2024. PMID: 37705207 Free PMC article.
83 results