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Page 1
Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations.
Feurstein S, Adegunsoye A, Mojsilovic D, Vij R, West DePersia AH, Rajagopal PS, Osman A, Collins RH, Kim RH, Gore SD, Greenberg P, Godley LA, Li Z, Del Gaudio D, Subramanian HP, Das S, Walsh T, Gulsuner S, Segal JP, Husain AN, Gurbuxani S, King MC, Strek ME, Churpek JE. Feurstein S, et al. Among authors: gulsuner s. Blood Adv. 2020 Oct 13;4(19):4873-4886. doi: 10.1182/bloodadvances.2020001721. Blood Adv. 2020. PMID: 33035329 Free PMC article.
Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.
Zhang MY, Keel SB, Walsh T, Lee MK, Gulsuner S, Watts AC, Pritchard CC, Salipante SJ, Jeng MR, Hofmann I, Williams DA, Fleming MD, Abkowitz JL, King MC, Shimamura A. Zhang MY, et al. Among authors: gulsuner s. Haematologica. 2015 Jan;100(1):42-8. doi: 10.3324/haematol.2014.113456. Epub 2014 Sep 19. Haematologica. 2015. PMID: 25239263 Free PMC article.
Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease.
Unal Gulsuner H, Gulsuner S, Mercan FN, Onat OE, Walsh T, Shahin H, Lee MK, Dogu O, Kansu T, Topaloglu H, Elibol B, Akbostanci C, King MC, Ozcelik T, Tekinay AB. Unal Gulsuner H, et al. Among authors: gulsuner s. Proc Natl Acad Sci U S A. 2014 Dec 23;111(51):18285-90. doi: 10.1073/pnas.1419581111. Epub 2014 Nov 24. Proc Natl Acad Sci U S A. 2014. PMID: 25422467 Free PMC article.
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.
Zhang MY, Churpek JE, Keel SB, Walsh T, Lee MK, Loeb KR, Gulsuner S, Pritchard CC, Sanchez-Bonilla M, Delrow JJ, Basom RS, Forouhar M, Gyurkocza B, Schwartz BS, Neistadt B, Marquez R, Mariani CJ, Coats SA, Hofmann I, Lindsley RC, Williams DA, Abkowitz JL, Horwitz MS, King MC, Godley LA, Shimamura A. Zhang MY, et al. Among authors: gulsuner s. Nat Genet. 2015 Feb;47(2):180-5. doi: 10.1038/ng.3177. Epub 2015 Jan 12. Nat Genet. 2015. PMID: 25581430 Free PMC article.
Improving performance of multigene panels for genomic analysis of cancer predisposition.
Shirts BH, Casadei S, Jacobson AL, Lee MK, Gulsuner S, Bennett RL, Miller M, Hall SA, Hampel H, Hisama FM, Naylor LV, Goetsch C, Leppig K, Tait JF, Scroggins SM, Turner EH, Livingston R, Salipante SJ, King MC, Walsh T, Pritchard CC. Shirts BH, et al. Among authors: gulsuner s. Genet Med. 2016 Oct;18(10):974-81. doi: 10.1038/gim.2015.212. Epub 2016 Feb 4. Genet Med. 2016. PMID: 26845104 Free article.
Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.
Pierce SB, Gulsuner S, Stapleton GA, Walsh T, Lee MK, Mandell JB, Morales A, Klevit RE, King MC, Rogers RC. Pierce SB, et al. Among authors: gulsuner s. Cold Spring Harb Mol Case Stud. 2016 Jul;2(4):a001107. doi: 10.1101/mcs.a001107. Cold Spring Harb Mol Case Stud. 2016. PMID: 27551684 Free PMC article.
Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.
Aran A, Segel R, Kaneshige K, Gulsuner S, Renbaum P, Oliphant S, Meirson T, Weinberg-Shukron A, Hershkovitz Y, Zeligson S, Lee MK, Samson AO, Parsons SM, King MC, Levy-Lahad E, Walsh T. Aran A, et al. Among authors: gulsuner s. Neurology. 2017 Mar 14;88(11):1021-1028. doi: 10.1212/WNL.0000000000003720. Epub 2017 Feb 10. Neurology. 2017. PMID: 28188302 Free PMC article.
Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.
Lolas Hamameh S, Renbaum P, Kamal L, Dweik D, Salahat M, Jaraysa T, Abu Rayyan A, Casadei S, Mandell JB, Gulsuner S, Lee MK, Walsh T, King MC, Levy-Lahad E, Kanaan M. Lolas Hamameh S, et al. Among authors: gulsuner s. Int J Cancer. 2017 Aug 15;141(4):750-756. doi: 10.1002/ijc.30771. Epub 2017 May 19. Int J Cancer. 2017. PMID: 28486781 Free PMC article.
60 results