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Items: 1 to 20 of 67

1.

Severe therapy-related toxicities after treatment for Hodgkin lymphoma due to a pathogenic TERT variant and shortened telomeres.

Agrusa JE, Bertuch AA, DiNardo CD, Plon SE, Eckstein OS.

Pediatr Blood Cancer. 2019 May 2:e27779. doi: 10.1002/pbc.27779. [Epub ahead of print]

PMID:
31050187
2.

Immunosuppressive therapy for pediatric aplastic anemia: a North American Pediatric Aplastic Anemia Consortium study.

Rogers ZR, Nakano TA, Olson TS, Bertuch AA, Wang W, Gillio A, Coates TD, Chawla A, Castillo P, Kurre P, Gamper C, Bennett CM, Joshi S, Geddis AE, Boklan J, Nalepa G, Rothman JA, Huang JN, Kupfer GM, Cada M, Glader B, Walkovich KJ, Thompson AA, Hanna R, Vlachos A, Malsch M, Weller EA, Williams DA, Shimamura A.

Haematologica. 2019 Apr 4. pii: haematol.2018.206540. doi: 10.3324/haematol.2018.206540. [Epub ahead of print]

3.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B.

Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14.

4.

Monozygotic twins with non-Down syndrome associated MLL-rearranged hematologic malignancy and megakaryoblastic differentiation.

Foster JH, Williams CL, Elghetany MT, Liu P, Krance RA, Bertuch AA, Gramatges MM.

Leuk Lymphoma. 2019 Apr;60(4):1083-1086. doi: 10.1080/10428194.2018.1516883. Epub 2018 Oct 2. No abstract available.

PMID:
30277109
5.

PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome: A rare cause of childhood neutropenia associated with systemic inflammation and hyperzincemia.

Hashmi SK, Bergstrom K, Bertuch AA, Despotovic JM, Muscal E, Xia F, Bi W, Marcogliese A, Diaz R.

Pediatr Blood Cancer. 2019 Jan;66(1):e27439. doi: 10.1002/pbc.27439. Epub 2018 Sep 10.

PMID:
30198636
6.

Understanding the evolving phenotype of vascular complications in telomere biology disorders.

Higgs C, Crow YJ, Adams DM, Chang E, Hayes D Jr, Herbig U, Huang JN, Himes R, Jajoo K, Johnson FB, Reynolds SD, Yonekawa Y, Armanios M, Boulad F, DiNardo CD, Dufour C, Goldman FD, Khan S, Kratz C, Myers KC, Raghu G, Alter BP, Aubert G, Bhala S, Cowen EW, Dror Y, El-Youssef M, Friedman B, Giri N, Helms Guba L, Khincha PP, Lin TF, Longhurst H, McReynolds LJ, Nelson A, Olson T, Pariser A, Perona R, Sasa G, Schratz K, Simonetto DA, Townsley D, Walsh M, Stevens K, Agarwal S, Bertuch AA, Savage SA; Clinical Care Consortium for Telomere-associated Ailments (CCCTAA).

Angiogenesis. 2019 Feb;22(1):95-102. doi: 10.1007/s10456-018-9640-7. Epub 2018 Aug 25.

PMID:
30168024
7.

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.

Genet Med. 2019 Mar;21(3):663-675. doi: 10.1038/s41436-018-0085-6. Epub 2018 Aug 30.

8.

Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita.

Khincha PP, Bertuch AA, Gadalla SM, Giri N, Alter BP, Savage SA.

Blood Adv. 2018 Jun 12;2(11):1243-1249. doi: 10.1182/bloodadvances.2018016964.

9.

Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.

Magoulas PL, Shchelochkov OA, Bainbridge MN, Ben-Shachar S, Yatsenko S, Potocki L, Lewis RA, Searby C, Marcogliese AN, Elghetany MT, Zapata G, Hernández PP, Gadkari M, Einhaus D, Muzny DM, Gibbs RA, Bertuch AA, Scott DA, Corvera S, Franco LM.

Blood. 2018 Aug 9;132(6):658-662. doi: 10.1182/blood-2017-12-824433. Epub 2018 May 21. No abstract available.

PMID:
29784638
10.

The C-Terminal Extension Unique to the Long Isoform of the Shelterin Component TIN2 Enhances Its Interaction with TRF2 in a Phosphorylation- and Dyskeratosis Congenita Cluster-Dependent Fashion.

Nelson ND, Dodson LM, Escudero L, Sukumar AT, Williams CL, Mihalek I, Baldan A, Baird DM, Bertuch AA.

Mol Cell Biol. 2018 May 29;38(12). pii: e00025-18. doi: 10.1128/MCB.00025-18. Print 2018 Jun 15.

11.

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.

Genetics. 2018 May;209(1):115-128. doi: 10.1534/genetics.117.300672. Epub 2018 Mar 2.

12.

Somatic mutations in children with GATA2-associated myelodysplastic syndrome who lack other features of GATA2 deficiency.

Fisher KE, Hsu AP, Williams CL, Sayeed H, Merritt BY, Elghetany MT, Holland SM, Bertuch AA, Gramatges MM.

Blood Adv. 2017 Feb 27;1(7):443-448. doi: 10.1182/bloodadvances.2016002311. eCollection 2017 Feb 28.

13.

Structural Insights into Yeast Telomerase Recruitment to Telomeres.

Chen H, Xue J, Churikov D, Hass EP, Shi S, Lemon LD, Luciano P, Bertuch AA, Zappulla DC, Géli V, Wu J, Lei M.

Cell. 2018 Jan 11;172(1-2):331-343.e13. doi: 10.1016/j.cell.2017.12.008. Epub 2017 Dec 28.

14.

Somatic mutations and clonal hematopoiesis in congenital neutropenia.

Xia J, Miller CA, Baty J, Ramesh A, Jotte MRM, Fulton RS, Vogel TP, Cooper MA, Walkovich KJ, Makaryan V, Bolyard AA, Dinauer MC, Wilson DB, Vlachos A, Myers KC, Rothbaum RJ, Bertuch AA, Dale DC, Shimamura A, Boxer LA, Link DC.

Blood. 2018 Jan 25;131(4):408-416. doi: 10.1182/blood-2017-08-801985. Epub 2017 Nov 1.

15.

Standardized high-sensitivity flow cytometry testing for paroxysmal nocturnal hemoglobinuria in children with acquired bone marrow failure disorders: A single center US study.

Donohue RE, Marcogliese AN, Sasa GS, Elghetany MT, Redkar AA, Bertuch AA, Curry CV.

Cytometry B Clin Cytom. 2018 Jul;94(4):699-704. doi: 10.1002/cyto.b.21536. Epub 2017 Jun 27.

PMID:
28574201
16.

Features of Hepatitis in Hepatitis-associated Aplastic Anemia: Clinical and Histopathologic Study.

Patel KR, Bertuch A, Sasa GS, Himes RW, Wu H.

J Pediatr Gastroenterol Nutr. 2017 Jan;64(1):e7-e12. doi: 10.1097/MPG.0000000000001271.

PMID:
28030425
17.

Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders.

Khincha PP, Bertuch AA, Agarwal S, Townsley DM, Young NS, Keel S, Shimamura A, Boulad F, Simoneau T, Justino H, Kuo C, Artandi S, McCaslin C, Cox DW, Chaffee S, Collins BF, Giri N, Alter BP, Raghu G, Savage SA.

Eur Respir J. 2017 Jan 25;49(1). pii: 1601640. doi: 10.1183/13993003.01640-2016. Print 2017 Jan. No abstract available.

18.

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LTN, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR.

J Allergy Clin Immunol. 2017 Jan;139(1):232-245. doi: 10.1016/j.jaci.2016.05.042. Epub 2016 Jul 16. Erratum in: J Allergy Clin Immunol. 2018 Feb;141(2):832.

19.

Shorter Remission Telomere Length Predicts Delayed Neutrophil Recovery After Acute Myeloid Leukemia Therapy: A Report From the Children's Oncology Group.

Gerbing RB, Alonzo TA, Sung L, Gamis AS, Meshinchi S, Plon SE, Bertuch AA, Gramatges MM.

J Clin Oncol. 2016 Nov 1;34(31):3766-3772. doi: 10.1200/JCO.2016.66.9622.

20.

Consider the workhorse: Nonhomologous end-joining in budding yeast.

Emerson CH, Bertuch AA.

Biochem Cell Biol. 2016 Oct;94(5):396-406. Epub 2016 Mar 31. Review.

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