Publications
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Filters: Author is Plon, Sharon E and Keyword is Mutation [Clear All Filters]
Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility study. Pediatr Hematol Oncol. 2023 ;40(8):719-738.
. Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome. Cancer Genet. 2022 ;262-263:53-56.
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ITD assembler: an algorithm for internal tandem duplication discovery from short-read sequencing data. BMC Bioinformatics. 2016 ;17:188.
. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016 ;7:10713.
. Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney. Nat Commun. 2015 ;6:8891.
. . De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 ;94(5):784-9.
. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 ;312(18):1870-9.
. Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel. Cancer Genet. 2011 ;204(1):19-25.
. Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome. Am J Hum Genet. 2002 ;71(1):165-7.
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