Bertuch AA - Search Results

1

Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency.

Pillai NR, Amin H, Gijavanekar C, Liu N, Issaq N, Broniowska KA, Bertuch AA, Sutton VR, Elsea SH, Scaglia F. Pillai NR, et al. Among authors: bertuch aa. Am J Med Genet A. 2020 Nov;182(11):2781-2787. doi: 10.1002/ajmg.a.61851. Epub 2020 Sep 10. Am J Med Genet A. 2020. PMID: 32909658

2

Expansion of the clinical phenotype of GALE deficiency.

Markovitz R, Owen N, Satter LF, Kirk S, Mahoney DH, Bertuch AA, Scaglia F. Markovitz R, et al. Among authors: bertuch aa. Am J Med Genet A. 2021 Oct;185(10):3118-3121. doi: 10.1002/ajmg.a.62384. Epub 2021 Jun 22. Am J Med Genet A. 2021. PMID: 34159722

3

The germline p53 activation syndrome: A new patient further refines the clinical phenotype.

Kumar RD, Tosur M, Lalani SR, Mahoney DH Jr, Bertuch AA. Kumar RD, et al. Among authors: bertuch aa. Am J Med Genet A. 2022 Jul;188(7):2204-2208. doi: 10.1002/ajmg.a.62749. Epub 2022 Apr 1. Am J Med Genet A. 2022. PMID: 35362179

4

Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM-associated syndromes.

Lozano Chinga MM, Bertuch AA, Afify Z, Dollerschell K, Hsu JI, John TD, Rao ES, Rowe RG, Sankaran VG, Shimamura A, Williams DA, Nakano TA. Lozano Chinga MM, et al. Among authors: bertuch aa. Am J Med Genet A. 2023 Jul;191(7):1826-1835. doi: 10.1002/ajmg.a.63208. Epub 2023 Apr 17. Am J Med Genet A. 2023. PMID: 37067177

5

Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.

Sasa GS, Ribes-Zamora A, Nelson ND, Bertuch AA. Sasa GS, et al. Among authors: bertuch aa. Clin Genet. 2012 May;81(5):470-8. doi: 10.1111/j.1399-0004.2011.01658.x. Epub 2011 Apr 7. Clin Genet. 2012. PMID: 21477109 Free PMC article.

6

The principal role of Ku in telomere length maintenance is promotion of Est1 association with telomeres.

Williams JM, Ouenzar F, Lemon LD, Chartrand P, Bertuch AA. Williams JM, et al. Among authors: bertuch aa. Genetics. 2014 Aug;197(4):1123-36. doi: 10.1534/genetics.114.164707. Epub 2014 May 30. Genetics. 2014. PMID: 24879463 Free PMC article.

7

Ku DNA End-Binding Activity Promotes Repair Fidelity and Influences End-Processing During Nonhomologous End-Joining in Saccharomyces cerevisiae.

Emerson CH, Lopez CR, Ribes-Zamora A, Polleys EJ, Williams CL, Yeo L, Zaneveld JE, Chen R, Bertuch AA. Emerson CH, et al. Among authors: bertuch aa. Genetics. 2018 May;209(1):115-128. doi: 10.1534/genetics.117.300672. Epub 2018 Mar 2. Genetics. 2018. PMID: 29500182 Free PMC article.

8

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L; DDD Study; Abid F, Bertuch AA, Grange D, Immken L, Schaaf CP, Van Esch H, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P. Yuan B, et al. Among authors: bertuch aa. Genet Med. 2019 Mar;21(3):663-675. doi: 10.1038/s41436-018-0085-6. Epub 2018 Aug 30. Genet Med. 2019. PMID: 30158690 Free PMC article.

9

EXO1 contributes to telomere maintenance in both telomerase-proficient and telomerase-deficient Saccharomyces cerevisiae.

Bertuch AA, Lundblad V. Bertuch AA, et al. Genetics. 2004 Apr;166(4):1651-9. doi: 10.1534/genetics.166.4.1651. Genetics. 2004. PMID: 15126387 Free PMC article.

10

Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.

Carvalho CM, Zuccherato LW, Williams CL, Neill NJ, Murdock DR, Bainbridge M, Jhangiani SN, Muzny DM, Gibbs RA, Ip W, Guillerman RP, Lupski JR, Bertuch AA. Carvalho CM, et al. Among authors: bertuch aa. BMC Med Genet. 2014 Jun 4;15:64. doi: 10.1186/1471-2350-15-64. BMC Med Genet. 2014. PMID: 24898207 Free PMC article.

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