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Page 1
Comprehensive Genomic Profiling of High-Risk Pediatric Cancer Patients Has a Measurable Impact on Clinical Care.
Summers RJ, Castellino SM, Porter CC, MacDonald TJ, Basu GD, Szelinger S, Bhasin MK, Cash T, Carter AB, Castellino RC, Fangusaro JR, Mitchell SG, Pauly MG, Pencheva B, Wechsler DS, Graham DK, Goldsmith KC. Summers RJ, et al. Among authors: szelinger s. JCO Precis Oncol. 2022 Apr;6:e2100451. doi: 10.1200/PO.21.00451. JCO Precis Oncol. 2022. PMID: 35544730 Clinical Trial.
Genomic and Transcriptomic Analysis of Relapsed and Refractory Childhood Solid Tumors Reveals a Diverse Molecular Landscape and Mechanisms of Immune Evasion.
Byron SA, Hendricks WPD, Nagulapally AB, Kraveka JM, Ferguson WS, Brown VI, Eslin DE, Mitchell D, Cornelius A, Roberts W, Isakoff MS, Oesterheld JE, Wada RK, Rawwas J, Neville K, Zage PE, Harrod VL, Bergendahl G, VanSickle E, Dykema K, Bond J, Chou HC, Wei JS, Wen X, Reardon HV, Roos A, Nasser S, Izatt T, Enriquez D, Hegde AM, Cisneros F, Christofferson A, Turner B, Szelinger S, Keats JJ, Halperin RF, Khan J, Saulnier Sholler GL, Trent JM. Byron SA, et al. Among authors: szelinger s. Cancer Res. 2021 Dec 1;81(23):5818-5832. doi: 10.1158/0008-5472.CAN-21-1033. Epub 2021 Oct 5. Cancer Res. 2021. PMID: 34610968 Free PMC article.
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.
Balak C, Belnap N, Ramsey K, Joss S, Devriendt K, Naymik M, Jepsen W, Siniard AL, Szelinger S, Parker ME, Richholt R, Izatt T, LaFleur M, Terraf P, Llaci L, De Both M, Piras IS, Rangasamy S, Schrauwen I, Craig DW, Huentelman M, Narayanan V. Balak C, et al. Among authors: szelinger s. Am J Med Genet A. 2018 Jul;176(7):1549-1558. doi: 10.1002/ajmg.a.38712. Am J Med Genet A. 2018. PMID: 30160831
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).
Llaci L, Ramsey K, Belnap N, Claasen AM, Balak CD, Szelinger S, Jepsen WM, Siniard AL, Richholt R, Izat T, Naymik M, De Both M, Piras IS, Craig DW, Huentelman MJ, Narayanan V, Schrauwen I, Rangasamy S. Llaci L, et al. Among authors: szelinger s. Hum Genet. 2019 Dec;138(11-12):1409-1417. doi: 10.1007/s00439-019-02077-7. Epub 2019 Nov 20. Hum Genet. 2019. PMID: 31748968
A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.
Moskowitz AM, Belnap N, Siniard AL, Szelinger S, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Balak C, Piras IS, Russell M, Courtright AL, Rangasamy S, Ramsey K, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I. Moskowitz AM, et al. Among authors: szelinger s. Cold Spring Harb Mol Case Stud. 2016 Sep;2(5):a000851. doi: 10.1101/mcs.a000851. Cold Spring Harb Mol Case Stud. 2016. PMID: 27626064 Free PMC article.
Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.
Gerald B, Ramsey K, Belnap N, Szelinger S, Siniard AL, Balak C, Russell M, Richholt R, De Both M, Claasen AM, Schrauwen I, Huentelman MJ, Craig DW, Rangasamy S, Narayanan V. Gerald B, et al. Among authors: szelinger s. Semin Pediatr Neurol. 2018 Jul;26:28-32. doi: 10.1016/j.spen.2017.08.008. Epub 2017 Aug 16. Semin Pediatr Neurol. 2018. PMID: 29961512
A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome.
Schrauwen I, Szelinger S, Siniard AL, Corneveaux JJ, Kurdoglu A, Richholt R, De Both M, Malenica I, Swaminathan S, Rangasamy S, Kulkarni N, Bernes S, Buchhalter J, Ramsey K, Craig DW, Narayanan V, Huentelman MJ. Schrauwen I, et al. Among authors: szelinger s. Invest Ophthalmol Vis Sci. 2015 Jun;56(6):3896-904. doi: 10.1167/iovs.14-16261. Invest Ophthalmol Vis Sci. 2015. PMID: 26091538
90 results