InstitutionBaylor College of Medicine
DepartmentDepartment of Pediatrics
Address1102 BATES
Houston, TX 77030
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    Other Positions
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Molecular & Human Genetics
    DivisionMolecular & Human Genetics

    InstitutionBaylor College of Medicine
    DepartmentHuffington Center on Aging
    DivisionHuffington Ctr on Aging

    Collapse Affiliation 
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    Collapse Biography 
    Collapse awards and honors
    2012Research Mentorship Award, Baylor College of Medicine, Department of Pediatrics
    2012Society for Pediatric Research
    2014American Society of Clinical Investigators
    2019American Pediatric Society
    2022Master Clinician Award, Baylor College of Medicine

    Collapse Overview 

    Collapse Research 
    Collapse research activities and funding
    R01CA211653     (BERTUCH, ALISON A)Jan 1, 2017 - Dec 31, 2023
    Role: Principal Investigator

    R01HL131744     (BERTUCH, ALISON A ;HOCKEMEYER, DIRK)May 15, 2016 - Jun 30, 2026
    Molecular Genetics of the Telomere Biology Disorders
    Role: Principal Investigator

    R01GM077509     (BERTUCH, ALISON A)Sep 21, 2007 - Sep 30, 2019
    Roles of Ku and its interaction partners in telomere function and DNA repair
    Role: Principal Investigator

    K08HD001231     (BERTUCH, ALISON ANN)Feb 10, 1999 - Jan 31, 2005
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. 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. Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM-associated syndromes. Am J Med Genet A. 2023 07; 191(7):1826-1835. PMID: 37067177; PMCID: PMC10330190.
      Citations: 2     Fields:    Translation:Humans
    2. Jones CY, Williams CL, Moreno SP, Morris DK, Mondello C, Karlseder J, Bertuch AA. Hyperextended telomeres promote formation of C-circle DNA in telomerase positive human cells. J Biol Chem. 2023 05; 299(5):104665. PMID: 37003504; PMCID: PMC10235436.
      Citations: 1     Fields:    Translation:HumansCells
    3. Olson TS, Frost BF, Duke JL, Dribus M, Xie HM, Prudowsky ZD, Furutani E, Gudera J, Shah YB, Ferriola D, Dinou A, Pagkrati I, Kim S, Xu Y, He M, Zheng S, Nijim S, Lin P, Xu C, Nakano TA, Oved JH, Carreno BM, Bolon YT, Gadalla SM, Marsh SG, Paczesny S, Lee SJ, Monos DS, Shimamura A, Bertuch AA, Gragert L, Spellman SR, Babushok DV. Pathogenicity and impact of HLA class I alleles in aplastic anemia patients of different ethnicities. JCI Insight. 2022 11 22; 7(22). PMID: 36219480; PMCID: PMC9746824.
      Citations:    Fields:    Translation:Humans
    4. Revy P, Kannengiesser C, Bertuch AA. Genetics of human telomere biology disorders. Nat Rev Genet. 2023 02; 24(2):86-108. PMID: 36151328.
      Citations: 13     Fields:    Translation:HumansCells
    5. Choo S, Lorbeer FK, Regalado SG, Short SB, Wu S, Rieser G, Bertuch AA, Hockemeyer D. Editing TINF2 as a potential therapeutic approach to restore telomere length in dyskeratosis congenita. Blood. 2022 08 11; 140(6):608-618. PMID: 35421215; PMCID: PMC9373014.
      Citations:    Fields:    
    6. Kumar RD, Tosur M, Lalani SR, Mahoney DH, Bertuch AA. The germline p53 activation syndrome: A new patient further refines the clinical phenotype. Am J Med Genet A. 2022 07; 188(7):2204-2208. PMID: 35362179.
      Citations:    Fields:    Translation:HumansCells
    7. Furutani E, Liu S, Galvin A, Steltz S, Malsch MM, Loveless SK, Mount L, Larson JH, Queenan K, Bertuch AA, Fleming MD, Gansner JM, Geddis AE, Hanna R, Keel SB, Lau BW, Lipton JM, Lorsbach R, Nakano TA, Vlachos A, Wang WC, Davies SM, Weller E, Myers KC, Shimamura A. Hematologic complications with age in Shwachman-Diamond syndrome. Blood Adv. 2022 01 11; 6(1):297-306. PMID: 34758064; PMCID: PMC8753194.
      Citations: 3     Fields:    Translation:Humans
    8. Kozyra EJ, Hickstein DD, Calvo KR, DiNardo CD, Dworzak M, de Haas V, Hasle H, Shimamura A, Fleming MD, Inaba H, Lewis S, Hsu AP, Holland SM, Arnold DE, Mecucci C, Bertuch AA, Tawana K, Barzilai S, Hirabayashi S, Onozawa M, Lei S, Alaiz H, Andrikovics H, Betts D, Beverloo BH, Buechner J, Haus O, Jahnukainen K, Manola KN, Nebral K, Pasquali F, Van Roy N, Zemanova Z, Pastor VB, Strahm B, Noellke P, Niemeyer CM, Schlegelberger B, Yoshimi A, Wlodarski MW, G?hring G, Star? J, Keel SB, Cerm?k M, Cervera J, Tchinda J, Turkiewicz D. Association of unbalanced translocation der(1;7) with germline GATA2 mutations. Blood. 2021 12 09; 138(23):2441-2445. PMID: 34469508; PMCID: PMC8662074.
      Citations:    Fields:    Translation:Humans
    9. Thongon N, Ma F, Santoni A, Marchesini M, Fiorini E, Rose A, Adema V, Ganan-Gomez I, Groarke EM, Gutierrez-Rodrigues F, Chen S, Lockyer P, Schneider S, Bueso-Ramos C, Montalban-Bravo G, Class CA, Soltysiak KA, Pellegrini M, Sahin E, Bertuch AA, DiNardo CD, Garcia-Manero G, Young NS, Dwyer K, Colla S. Hematopoiesis under telomere attrition at the single-cell resolution. Nat Commun. 2021 11 25; 12(1):6850. PMID: 34824242; PMCID: PMC8617077.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
    10. Shimano KA, Narla A, Rose MJ, Gloude NJ, Allen SW, Bergstrom K, Broglie L, Carella BA, Castillo P, de Jong JLO, Dror Y, Geddis AE, Huang JN, Lau BW, McGuinn C, Nakano TA, Overholt K, Rothman JA, Sharathkumar A, Shereck E, Vlachos A, Olson TS, Bertuch AA, Wlodarski MW, Shimamura A, Boklan J. Diagnostic work-up for severe aplastic anemia in children: Consensus of the North American Pediatric Aplastic Anemia Consortium. Am J Hematol. 2021 11 01; 96(11):1491-1504. PMID: 34342889.
      Citations: 2     Fields:    Translation:Humans
    11. Markovitz R, Owen N, Satter LF, Kirk S, Mahoney DH, Bertuch AA, Scaglia F. Expansion of the clinical phenotype of GALE deficiency. Am J Med Genet A. 2021 10; 185(10):3118-3121. PMID: 34159722.
      Citations: 2     Fields:    Translation:Humans
    12. Kennedy AL, Myers KC, Bowman J, Gibson CJ, Camarda ND, Furutani E, Muscato GM, Klein RH, Ballotti K, Liu S, Harris CE, Galvin A, Malsch M, Dale D, Gansner JM, Nakano TA, Bertuch A, Vlachos A, Lipton JM, Castillo P, Connelly J, Churpek J, Edwards JR, Hijiya N, Ho RH, Hofmann I, Huang JN, Lamble A, Lau BW, Norkin M, Stieglitz E, Stock W, Walkovich K, Boettcher S, Brendel C, Fleming MD, Davies SM, Weller EA, Bahl C, Carter SL, Shimamura A, Lindsley RC, Keel S. Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome. Nat Commun. 2021 02 26; 12(1):1334. PMID: 33637765; PMCID: PMC7910481.
      Citations: 23     Fields:    Translation:HumansCells
    13. Henslee G, Williams CL, Liu P, Bertuch AA. Identification and characterization of novel ACD variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere length. Cold Spring Harb Mol Case Stud. 2021 02; 7(1). PMID: 33446513; PMCID: PMC7903889.
      Citations: 1     Fields:    Translation:HumansCells
    14. Himes RW, Chiou EH, Queliza K, Shouval DS, Somech R, Agarwal S, Jajoo K, Ziegler DS, Kratz CP, Huang J, Lucas TL, Myers KC, Nelson AS, DiNardo CD, Alter BP, Giri N, Khincha PP, McReynolds LJ, Dufour C, Pierri F, Goldman FD, Sherif Y, Savage SA, Miloh T, Bertuch AA. Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders. J Pediatr. 2021 03; 230:55-61.e4. PMID: 32971146.
      Citations: 2     Fields:    Translation:HumansCells
    15. Chakravarti D, Hu B, Mao X, Rashid A, Li J, Li J, Liao WT, Whitley EM, Dey P, Hou P, LaBella KA, Chang A, Wang G, Spring DJ, Deng P, Zhao D, Liang X, Lan Z, Lin Y, Sarkar S, Terranova C, Deribe YL, Blutt SE, Okhuysen P, Zhang J, Vilar E, Nielsen OH, Dupont A, Younes M, Patel KR, Shroyer NF, Rai K, Estes MK, Wang YA, Bertuch AA, DePinho RA. Telomere dysfunction activates YAP1 to drive tissue inflammation. Nat Commun. 2020 09 21; 11(1):4766. PMID: 32958778; PMCID: PMC7505960.
      Citations: 13     Fields:    Translation:HumansAnimalsCells
    16. Pillai NR, Amin H, Gijavanekar C, Liu N, Issaq N, Broniowska KA, Bertuch AA, Sutton VR, Elsea SH, Scaglia F. Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency. Am J Med Genet A. 2020 11; 182(11):2781-2787. PMID: 32909658.
      Citations: 1     Fields:    Translation:Humans
    17. Zhou F, Reineke LC, Khincha PP, Giri N, Mirabello L, Lemon LD, Elghetany MT, Lloyd RE, Alter BP, Savage SA, Bhar S, Morris DK, Bergstrom K, Williams CL, Toh Y, Bertuch AA. Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia. Hum Mutat. 2020 11; 41(11):1918-1930. PMID: 32790018; PMCID: PMC7857045.
      Citations: 5     Fields:    Translation:HumansCells
    18. Pulsipher MA, Lehmann LE, Bertuch AA, Sasa G, Olson T, Nakano T, Gilio A, Burroughs LM, Lipton JM, Huang JN, Dickerson K, Bertaina A, Zhuang C, Malsch M, Fleming M, Weller E, Shimamura A, Williams DA. A study assessing the feasibility of randomization of pediatric and young adult patients between matched unrelated donor bone marrow transplantation and immune-suppressive therapy for newly diagnosed severe aplastic anemia: A joint pilot trial of the North American Pediatric Aplastic Anemia Consortium and the Pediatric Transplantation and Cellular Therapy Consortium. Pediatr Blood Cancer. 2020 10; 67(10):e28444. PMID: 32776425; PMCID: PMC9533334.
      Citations:    Fields:    Translation:Humans
    19. Tomlinson CG, Sasa G, Aubert G, Martin-Giacalone B, Plon SE, Bryan TM, Bertuch AA, Gramatges MM. Clinical and functional characterization of telomerase variants in patients with pediatric acute myeloid leukemia/myelodysplastic syndrome. Leukemia. 2021 01; 35(1):269-273. PMID: 32313107; PMCID: PMC7575615.
      Citations: 2     Fields:    Translation:Humans
    20. Luo X, Feurstein S, Mohan S, Porter CC, Jackson SA, Keel S, Chicka M, Brown AL, Kesserwan C, Agarwal A, Luo M, Li Z, Ross JE, Baliakas P, Pineda-Alvarez D, DiNardo CD, Bertuch AA, Mehta N, Vulliamy T, Wang Y, Nichols KE, Malcovati L, Walsh MF, Rawlings LH, McWeeney SK, Routbort MJ, Zhang L, Ryan G, Speck NA, Plon SE, Wu D, Godley LA, Soulier J, Raimbault A. ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants. Blood Adv. 2019 10 22; 3(20):2962-2979. PMID: 31648317; PMCID: PMC6849945.
      Citations: 31     Fields:    Translation:Humans
    21. Dodson LM, Baldan A, Nissbeck M, Gunja SMR, Bonnen PE, Aubert G, Birchansky S, Virtanen A, Bertuch AA. From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants. Hum Mutat. 2019 12; 40(12):2414-2429. PMID: 31448843; PMCID: PMC6874886.
      Citations: 6     Fields:    Translation:HumansCells
    22. Lemon LD, Morris DK, Bertuch AA. Loss of Ku's DNA end binding activity affects telomere length via destabilizing telomere-bound Est1 rather than altering TLC1 homeostasis. Sci Rep. 2019 07 23; 9(1):10607. PMID: 31337791; PMCID: PMC6650470.
      Citations: 3     Fields:    Translation:AnimalsCells
    23. Agrusa JE, Bertuch AA, DiNardo CD, Plon SE, Eckstein OS. Severe therapy-related toxicities after treatment for Hodgkin lymphoma due to a pathogenic TERT variant and shortened telomeres. Pediatr Blood Cancer. 2019 08; 66(8):e27779. PMID: 31050187; PMCID: PMC7880543.
      Citations: 1     Fields:    Translation:HumansCells
    24. 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. Immunosuppressive therapy for pediatric aplastic anemia: a North American Pediatric Aplastic Anemia Consortium study. Haematologica. 2019 10; 104(10):1974-1983. PMID: 30948484; PMCID: PMC6886407.
      Citations: 7     Fields:    Translation:HumansCTClinical Trials
    25. 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, Shen W, Mao R, Heaney JD, Orange JS, University of Washington Center for Mendelian Genomics, Undiagnosed Diseases Network, 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, Huber C, Cormier-Daire V, Bertola D, Yamamoto GL, Baratela WAR. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 03 07; 104(3):422-438. PMID: 30773277; PMCID: PMC6408318.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    26. Foster JH, Williams CL, Elghetany MT, Liu P, Krance RA, Bertuch AA, Gramatges MM. Monozygotic twins with non-Down syndrome associated MLL-rearranged hematologic malignancy and megakaryoblastic differentiation. Leuk Lymphoma. 2019 04; 60(4):1083-1086. PMID: 30277109.
      Citations:    Fields:    Translation:HumansCells
    27. Hashmi SK, Bergstrom K, Bertuch AA, Despotovic JM, Muscal E, Xia F, Bi W, Marcogliese A, Diaz R. PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome: A rare cause of childhood neutropenia associated with systemic inflammation and hyperzincemia. Pediatr Blood Cancer. 2019 01; 66(1):e27439. PMID: 30198636.
      Citations: 4     Fields:    Translation:Humans
    28. 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, 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, Stray-Pedersen A. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 03; 21(3):663-675. PMID: 30158690; PMCID: PMC6395558.
      Citations: 23     Fields:    Translation:Humans
    29. Higgs C, Crow YJ, Adams DM, Chang E, Hayes D, 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, 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), Perona R. Understanding the evolving phenotype of vascular complications in telomere biology disorders. Angiogenesis. 2019 02; 22(1):95-102. PMID: 30168024.
      Citations: 11     Fields:    Translation:HumansAnimalsCells
    30. Khincha PP, Bertuch AA, Gadalla SM, Giri N, Alter BP, Savage SA. Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita. Blood Adv. 2018 06 12; 2(11):1243-1249. PMID: 29853525; PMCID: PMC5998921.
      Citations: 8     Fields:    Translation:HumansCellsCTClinical Trials
    31. Nelson ND, Dodson LM, Escudero L, Sukumar AT, Williams CL, Mihalek I, Baldan A, Baird DM, Bertuch AA. 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. Mol Cell Biol. 2018 06 15; 38(12). PMID: 29581185; PMCID: PMC5974431.
      Citations: 13     Fields:    Translation:HumansCells
    32. Magoulas PL, Shchelochkov OA, Bainbridge MN, Ben-Shachar S, Yatsenko S, Potocki L, Lewis RA, Searby C, Marcogliese AN, Elghetany MT, Zapata G, Gadkari M, Einhaus D, Muzny DM, Gibbs RA, Bertuch AA, Scott DA, Corvera S, Franco LM, Hern?ndez PP. Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN. Blood. 2018 08 09; 132(6):658-662. PMID: 29784638; PMCID: PMC6085991.
      Citations:    Fields:    Translation:Humans
    33. Emerson CH, Lopez CR, Ribes-Zamora A, Polleys EJ, Williams CL, Yeo L, Zaneveld JE, Chen R, Bertuch AA. Ku DNA End-Binding Activity Promotes Repair Fidelity and Influences End-Processing During Nonhomologous End-Joining in Saccharomyces cerevisiae. Genetics. 2018 05; 209(1):115-128. PMID: 29500182; PMCID: PMC5937190.
      Citations: 4     Fields:    Translation:AnimalsCells
    34. Chen H, Xue J, Hass EP, Shi S, Lemon LD, Bertuch AA, Zappulla DC, Wu J, Lei M, Churikov D, Luciano P, G?li V. Structural Insights into Yeast Telomerase Recruitment to Telomeres. Cell. 2018 01 11; 172(1-2):331-343.e13. PMID: 29290466; PMCID: PMC5839504.
      Citations: 38     Fields:    Translation:AnimalsCells
    35. 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. Somatic mutations and clonal hematopoiesis in congenital neutropenia. Blood. 2018 01 25; 131(4):408-416. PMID: 29092827; PMCID: PMC5790127.
      Citations: 42     Fields:    Translation:HumansCells
    36. Donohue RE, Marcogliese AN, Sasa GS, Elghetany MT, Redkar AA, Bertuch AA, Curry CV. Standardized high-sensitivity flow cytometry testing for paroxysmal nocturnal hemoglobinuria in children with acquired bone marrow failure disorders: A single center US study. Cytometry B Clin Cytom. 2018 07; 94(4):699-704. PMID: 28574201.
      Citations: 4     Fields:    Translation:Humans
    37. Fisher KE, Hsu AP, Williams CL, Sayeed H, Merritt BY, Elghetany MT, Holland SM, Bertuch AA, Gramatges MM. Somatic mutations in children with GATA2-associated myelodysplastic syndrome who lack other features of GATA2 deficiency. Blood Adv. 2017 Feb 28; 1(7):443-448. PMID: 29296959; PMCID: PMC5738979.
      Citations: 13     Fields:    
    38. Khincha PP, Bertuch AA, Agarwal S, Townsley DM, Young NS, 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, Keel S. Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders. Eur Respir J. 2017 01; 49(1). PMID: 27824607; PMCID: PMC5841586.
      Citations: 13     Fields:    Translation:HumansCells
    39. Bertuch A, Sasa GS, Himes RW, Wu H, Patel KR. Features of Hepatitis in Hepatitis-associated Aplastic Anemia: Clinical and Histopathologic Study. J Pediatr Gastroenterol Nutr. 2017 01; 64(1):e7-e12. PMID: 28030425.
      Citations: 5     Fields:    Translation:Humans
    40. Gerbing RB, Alonzo TA, Sung L, Gamis AS, Meshinchi S, Plon SE, Bertuch AA, Gramatges MM. Shorter Remission Telomere Length Predicts Delayed Neutrophil Recovery After Acute Myeloid Leukemia Therapy: A Report From the Children's Oncology Group. J Clin Oncol. 2016 11 01; 34(31):3766-3772. PMID: 27354474; PMCID: PMC5446304.
      Citations: 8     Fields:    Translation:HumansCells
    41. Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, 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, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Abrahamsen TG, Bechensteen AG, 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, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Karaca E, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, 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, Stray-Pedersen A, Sorte HS, R?dningen OK, Fevang B, Aukrust P, Tj?nnfjord GE, Nord?y I, J?rgensen SF, ?verland T, Skogen V, Franco JL, Trujillo Vargas CM, Cancrini C, Holmberg E, West C, Burstedt M, Yesil G, Flat? B. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245. PMID: 27577878; PMCID: PMC5222743.
      Citations: 99     Fields:    Translation:Humans
    42. DiNardo CD, Bannon SA, Routbort M, Franklin A, Mork M, Armanios M, Mace EM, Orange JS, Jeff-Eke M, Churpek JE, Takahashi K, Jorgensen JL, Garcia-Manero G, Kornblau S, Bertuch A, Cheung H, Bhalla K, Futreal A, Godley LA, Patel KP. Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC). Clin Lymphoma Myeloma Leuk. 2016 07; 16(7):417-428.e2. PMID: 27210295; PMCID: PMC4925265.
      Citations: 31     Fields:    Translation:Humans
    43. Nelson ND, Marcogliese A, Bergstrom K, Scheurer M, Mahoney D, Bertuch AA. Thrombopoietin Measurement as a Key Component in the Evaluation of Pediatric Thrombocytosis. Pediatr Blood Cancer. 2016 08; 63(8):1484-7. PMID: 27100794; PMCID: PMC4916014.
      Citations: 3     Fields:    Translation:Humans
    44. Emerson CH, Bertuch AA. Consider the workhorse: Nonhomologous end-joining in budding yeast. Biochem Cell Biol. 2016 Oct; 94(5):396-406. PMID: 27240172; PMCID: PMC5367924.
      Citations: 23     Fields:    Translation:AnimalsCells
    45. Bertuch AA. The molecular genetics of the telomere biology disorders. RNA Biol. 2016 08 02; 13(8):696-706. PMID: 26400640; PMCID: PMC4993306.
      Citations: 67     Fields:    Translation:HumansAnimalsCells
    46. Polleys EJ, Bertuch AA. Tryptophan-Dependent Control of Colony Formation After DNA Damage via Sea3-Regulated TORC1 Signaling in Saccharomyces cerevisiae. G3 (Bethesda). 2015 May 04; 5(7):1379-89. PMID: 25943524; PMCID: PMC4502372.
      Citations: 2     Fields:    Translation:AnimalsCells
    47. Bainbridge MN, Armstrong GN, Gramatges MM, Bertuch AA, Jhangiani SN, Doddapaneni H, Lewis L, Tombrello J, Tsavachidis S, Liu Y, Jalali A, Plon SE, Lau CC, Parsons DW, Claus EB, Barnholtz-Sloan J, Il'yasova D, Schildkraut J, Ali-Osman F, Sadetzki S, Johansen C, Houlston RS, Jenkins RB, Lachance D, Olson SH, Bernstein JL, Merrell RT, Wrensch MR, Walsh KM, Davis FG, Lai R, Shete S, Aldape K, Amos CI, Thompson PA, Muzny DM, Gibbs RA, Melin BS, Bondy ML, Gliogene Consortium. Germline mutations in shelterin complex genes are associated with familial glioma. J Natl Cancer Inst. 2015 Jan; 107(1):384. PMID: 25482530; PMCID: PMC4296199.
      Citations: 101     Fields:    Translation:HumansCells
    48. Bertuch AA. A new mutant at the end: TPP1, telomeres, and BMF. Blood. 2014 Oct 30; 124(18):2757-8. PMID: 25359981.
      Citations:    Fields:    Translation:HumansCells
    49. Stray-Pedersen A, Jouanguy E, Crequer A, Bertuch AA, Brown BS, Jhangiani SN, Muzny DM, Gambin T, Sorte H, Sasa G, Metry D, Campbell J, Sockrider MM, Dishop MK, Scollard DM, Gibbs RA, Mace EM, Orange JS, Lupski JR, Casanova JL, Noroski LM. Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. J Clin Immunol. 2014 Oct; 34(7):871-90. PMID: 25073507; PMCID: PMC4386834.
      Citations: 26     Fields:    Translation:HumansCells
    50. 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. Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. BMC Med Genet. 2014 Jun 04; 15:64. PMID: 24898207; PMCID: PMC4057820.
      Citations: 2     Fields:    Translation:HumansCells
    51. Williams JM, Lemon LD, Bertuch AA, Ouenzar F, Chartrand P. The principal role of Ku in telomere length maintenance is promotion of Est1 association with telomeres. Genetics. 2014 Aug; 197(4):1123-36. PMID: 24879463; PMCID: PMC4125388.
      Citations: 10     Fields:    Translation:AnimalsCells
    52. Hang LE, Lopez CR, Liu X, Williams JM, Chung I, Wei L, Bertuch AA, Zhao X. Regulation of Ku-DNA association by Yku70 C-terminal tail and SUMO modification. J Biol Chem. 2014 Apr 11; 289(15):10308-10317. PMID: 24567323; PMCID: PMC4036155.
      Citations: 21     Fields:    Translation:AnimalsCells
    53. Williams DA, Bennett C, Bertuch A, Bessler M, Coates T, Corey S, Dror Y, Huang J, Lipton J, Olson TS, Reiss UM, Rogers ZR, Sieff C, Vlachos A, Walkovich K, Wang W, Shimamura A. Diagnosis and treatment of pediatric acquired aplastic anemia (AAA): an initial survey of the North American Pediatric Aplastic Anemia Consortium (NAPAAC). Pediatr Blood Cancer. 2014 May; 61(5):869-74. PMID: 24285674; PMCID: PMC4280184.
      Citations: 8     Fields:    Translation:Humans
    54. Ribes-Zamora A, Indiviglio SM, Mihalek I, Williams CL, Bertuch AA. TRF2 interaction with Ku heterotetramerization interface gives insight into c-NHEJ prevention at human telomeres. Cell Rep. 2013 Oct 17; 5(1):194-206. PMID: 24095731; PMCID: PMC3984498.
      Citations: 26     Fields:    Translation:HumansCells
    55. Gramatges MM, Bertuch AA. Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy. Transl Res. 2013 Dec; 162(6):353-63. PMID: 23732052; PMCID: PMC3834083.
      Citations: 36     Fields:    Translation:HumansCells
    56. Gramatges MM, Qi X, Sasa GS, Chen JJ, Bertuch AA. A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome. Blood. 2013 May 02; 121(18):3586-93. PMID: 23538340; PMCID: PMC3643759.
      Citations: 12     Fields:    Translation:HumansCells
    57. Cheung HC, San Lucas FA, Hicks S, Chang K, Bertuch AA, Ribes-Zamora A. An S/T-Q cluster domain census unveils new putative targets under Tel1/Mec1 control. BMC Genomics. 2012 Nov 23; 13:664. PMID: 23176708; PMCID: PMC3564818.
      Citations: 10     Fields:    Translation:HumansAnimalsCells
    58. Churpek JE, Lorenz R, Nedumgottil S, Onel K, Olopade OI, Sorrell A, Owen CJ, Bertuch AA, Godley LA. Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes. Leuk Lymphoma. 2013 Jan; 54(1):28-35. PMID: 22691122.
      Citations: 38     Fields:    Translation:Humans
    59. DeLario MR, Sheehan AM, Ataya R, Bertuch AA, Vega C, Webb CR, Lopez-Terrada D, Venkateswaran L. Clinical, histopathologic, and genetic features of pediatric primary myelofibrosis--an entity different from adults. Am J Hematol. 2012 May; 87(5):461-4. PMID: 22389089.
      Citations: 9     Fields:    Translation:Humans
    60. Canudas S, Houghtaling BR, Bhanot M, Sasa G, Savage SA, Bertuch AA, Smith S. A role for heterochromatin protein 1? at human telomeres. Genes Dev. 2011 Sep 01; 25(17):1807-19. PMID: 21865325; PMCID: PMC3175717.
      Citations: 67     Fields:    Translation:HumansCells
    61. Lopez CR, Ribes-Zamora A, Indiviglio SM, Williams CL, Haricharan S, Bertuch AA. Ku must load directly onto the chromosome end in order to mediate its telomeric functions. PLoS Genet. 2011 Aug; 7(8):e1002233. PMID: 21852961; PMCID: PMC3154960.
      Citations: 25     Fields:    Translation:AnimalsCells
    62. Nelson ND, Bertuch AA. Dyskeratosis congenita as a disorder of telomere maintenance. Mutat Res. 2012 Feb 01; 730(1-2):43-51. PMID: 21745483; PMCID: PMC3208805.
      Citations: 56     Fields:    Translation:HumansCells
    63. Sasa GS, Ribes-Zamora A, Nelson ND, Bertuch AA. Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. Clin Genet. 2012 May; 81(5):470-8. PMID: 21477109; PMCID: PMC3844870.
      Citations: 39     Fields:    Translation:HumansCells
    64. Savage SA, Bertuch AA. The genetics and clinical manifestations of telomere biology disorders. Genet Med. 2010 Dec; 12(12):753-64. PMID: 21189492; PMCID: PMC3825100.
      Citations: 107     Fields:    Translation:HumansCells
    65. Gramatges MM, Bertuch AA. Measuring relative telomere length: is tissue an issue? Aging (Albany NY). 2010 Nov; 2(11):756-7. PMID: 21113083; PMCID: PMC3006017.
      Citations: 5     Fields:    Translation:HumansCells
    66. Stewart SA, Bertuch AA. The role of telomeres and telomerase in cancer research. Cancer Res. 2010 Oct 01; 70(19):7365-71. PMID: 20841475; PMCID: PMC2948573.
      Citations: 10     Fields:    Translation:HumansAnimalsCells
    67. Yustein JT, Rednam S, Bertuch AA, Goss JA, Brandt ML, Eldin K, Lu X, Hicks J. Abdominal undifferentiated small round cell tumor with unique translocation (X;19)(q13;q13.3). Pediatr Blood Cancer. 2010 Jul 01; 54(7):1041-4. PMID: 20162687.
      Citations: 1     Fields:    Translation:HumansCells
    68. Olofsson P, Bertuch AA. Modeling growth and telomere dynamics in Saccharomyces cerevisiae. J Theor Biol. 2010 Apr 07; 263(3):353-9. PMID: 20018194; PMCID: PMC3832845.
      Citations: 2     Fields:    Translation:AnimalsCells
    69. Liti G, Haricharan S, Cubillos FA, Tierney AL, Sharp S, Bertuch AA, Parts L, Bailes E, Louis EJ. Segregating YKU80 and TLC1 alleles underlying natural variation in telomere properties in wild yeast. PLoS Genet. 2009 Sep; 5(9):e1000659. PMID: 19763176; PMCID: PMC2734985.
      Citations: 27     Fields:    Translation:AnimalsCells
    70. Horton TM, Jenkins G, Pati D, Zhang L, Dolan ME, Ribes-Zamora A, Bertuch AA, Blaney SM, Delaney SL, Hegde M, Berg SL. Poly(ADP-ribose) polymerase inhibitor ABT-888 potentiates the cytotoxic activity of temozolomide in leukemia cells: influence of mismatch repair status and O6-methylguanine-DNA methyltransferase activity. Mol Cancer Ther. 2009 Aug; 8(8):2232-42. PMID: 19671751; PMCID: PMC3741063.
      Citations: 35     Fields:    Translation:HumansCells
    71. Marvin ME, Becker MM, Noel P, Hardy S, Bertuch AA, Louis EJ. The association of yKu with subtelomeric core X sequences prevents recombination involving telomeric sequences. Genetics. 2009 Oct; 183(2):453-67, 1SI-13SI. PMID: 19652176; PMCID: PMC2766309.
      Citations: 16     Fields:    Translation:AnimalsCells
    72. Indiviglio SM, Bertuch AA. Ku's essential role in keeping telomeres intact. Proc Natl Acad Sci U S A. 2009 Jul 28; 106(30):12217-8. PMID: 19622731; PMCID: PMC2718394.
      Citations: 11     Fields:    Translation:HumansCells
    73. Russell H, Hicks MJ, Bertuch AA, Chintagumpala M. Infantile fibrosarcoma: clinical and histologic responses to cytotoxic chemotherapy. Pediatr Blood Cancer. 2009 Jul; 53(1):23-7. PMID: 19340853.
      Citations: 10     Fields:    Translation:Humans
    74. Muscal JA, Jones JY, Paulino AC, Bertuch AA, Su J, Woo SY, Mahoney DH, Chintagumpala M. Changes mimicking new leptomeningeal disease after intensity-modulated radiotherapy for medulloblastoma. Int J Radiat Oncol Biol Phys. 2009 Jan 01; 73(1):214-21. PMID: 18485616; PMCID: PMC2953789.
      Citations: 6     Fields:    Translation:HumansPHPublic HealthCTClinical Trials
    75. Louis CU, Paulino AC, Gottschalk S, Bertuch AA, Chintagumpala M, Heslop HE, Russell HV. A single institution experience with pediatric nasopharyngeal carcinoma: high incidence of toxicity associated with platinum-based chemotherapy plus IMRT. J Pediatr Hematol Oncol. 2007 Jul; 29(7):500-5. PMID: 17609631.
      Citations: 7     Fields:    Translation:Humans
    76. Ribes-Zamora A, Mihalek I, Lichtarge O, Bertuch AA. Distinct faces of the Ku heterodimer mediate DNA repair and telomeric functions. Nat Struct Mol Biol. 2007 Apr; 14(4):301-7. PMID: 17351632.
      Citations: 65     Fields:    Translation:HumansAnimalsCells
    77. Bertuch AA, Lundblad V. The maintenance and masking of chromosome termini. Curr Opin Cell Biol. 2006 Jun; 18(3):247-53. PMID: 16682180.
      Citations: 31     Fields:    Translation:HumansCells
    78. Hermanns P, Bertuch AA, Bertin TK, Dawson B, Schmitt ME, Shaw C, Zabel B, Lee B. Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. Hum Mol Genet. 2005 Dec 01; 14(23):3723-40. PMID: 16254002.
      Citations: 43     Fields:    Translation:HumansAnimalsCells
    79. Bertuch AA, Lundblad V. EXO1 contributes to telomere maintenance in both telomerase-proficient and telomerase-deficient Saccharomyces cerevisiae. Genetics. 2004 Apr; 166(4):1651-9. PMID: 15126387; PMCID: PMC1470828.
      Citations: 55     Fields:    Translation:AnimalsCells
    80. Bertuch AA, Lundblad V. The Ku heterodimer performs separable activities at double-strand breaks and chromosome termini. Mol Cell Biol. 2003 Nov; 23(22):8202-15. PMID: 14585978; PMCID: PMC262345.
      Citations: 47     Fields:    Translation:HumansCells
    81. Bertuch AA, Lundblad V. Which end: dissecting Ku's function at telomeres and double-strand breaks. Genes Dev. 2003 Oct 01; 17(19):2347-50. PMID: 14522942.
      Citations: 21     Fields:    Translation:HumansAnimalsCells
    82. Bertuch AA, Buckley K, Lundblad V. The way to the end matters--the role of telomerase in tumor progression. Cell Cycle. 2003 Jan-Feb; 2(1):36-8. PMID: 12695685.
      Citations:    Fields:    Translation:HumansAnimalsCells
    83. Evans SK, Bertuch AA, Lundblad V. Telomeres and telomerase: at the end, it all comes together. Trends Cell Biol. 1999 Aug; 9(8):329-31. PMID: 10490336.
      Citations: 6     Fields:    Translation:HumansAnimalsCells
    84. Bertuch A, Lundblad V. Telomeres and double-strand breaks: trying to make ends meet. Trends Cell Biol. 1998 Sep; 8(9):339-42. PMID: 9728393.
      Citations: 11     Fields:    Translation:Cells
    85. Flannery TK, Kirkland JL, Copeland KC, Bertuch AA, Karaviti LP, Brandt ML. Papillary thyroid cancer: a pediatric perspective. Pediatrics. 1996 Sep; 98(3 Pt 1):464-6. PMID: 8784379.
      Citations: 2     Fields:    Translation:Humans
    86. Kim CH, Heath C, Bertuch A, Hansen U. Specific stimulation of simian virus 40 late transcription in vitro by a cellular factor binding the simian virus 40 21-base-pair repeat promoter element. Proc Natl Acad Sci U S A. 1987 Sep; 84(17):6025-9. PMID: 2819862; PMCID: PMC299000.
      Citations: 36     Fields:    Translation:HumansCells
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