ALISONBERTUCHN6k183HSI4PVRIzgrn7GPw==ALISON BERTUCH0.000000000000000.000000000000002012BERTUCH, ALISONtelomere maintenance mechanismsDNA repairtelomere biology disordersdyskeratosis congenitainherited bone marrow failure syndromesaplastic anemiaProfessorplugins:TwitterTwitterprns:awardConferredByaward conferred byprns:coAuthorOfcoauthor ofprns:emailEncryptedemail addressprns:endDateend dateFaculty Rankprns:fullNamefull nameprns:grantAwardedBygrant awarded byprns:hasAuthorListauthor listprns:hasFacultyRankhas faculty rankprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:mainImagephotoprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:personIdPerson IDprns:personInPrimaryPositionperson in primary positionprns:physicalNeighborOfphysical neighborprns:pluginSearchableDataProfilesRNS Plugin Searchable Dataprns:positionInDepartmentposition in departmentprns:positionInDivisionposition in divisionprns:predicateNodepredicate nodeprns:principalInvestigatorNameprincipal investigator nameprns:publicationDatepublication dateprns:similarTosimilar toprns:sortOrdersort orderprns:startDatestart dateprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed IdentifierAddressvivo:address1address line 1vivo:addressCitycityvivo:addressPostalCodepostal codevivo:addressStatestate or provinceAgreementvivo:authorInAuthorshipselected publicationsvivo:authorRankauthor rank in publicationAuthorshipvivo:awardOrHonorawards and honorsAward or Honor ReceiptDepartmentDivisionvivo:freetextKeywordkeywordsGrantvivo:hasMemberRolemember ofvivo:hasResearchArearesearch areasvivo:hasResearcherRoleresearch activitiesvivo:hrJobTitleHR job titleInformation Resourcevivo:linkAnchorTextlink anchor textvivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcevivo:mailingAddressmailing addressMember Rolevivo:memberRoleOfmember role ofvivo:personInPositionpositionsPositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titleResearcher Rolevivo:researcherRoleOfresearcher role ofRolevivo:roleContributesTocontributes tovivo:sponsorAwardIdsponsor award idURLLinkvivo:webpagewebpagerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst nameGroupfoaf:lastNamelast nameOrganizationPerson25359981Bertuch AABloodA new mutant at the end: TPP1, telomeres, and BMF. Blood. 2014 Oct 30; 124(18):2757-8.Blood2014-10-30T00:00:002014A new mutant at the end: TPP1, telomeres, and BMF.25482530Bainbridge 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 ConsortiumJournal of the National Cancer InstituteGermline mutations in shelterin complex genes are associated with familial glioma. J Natl Cancer Inst. 2015 Jan; 107(1):384.J Natl Cancer Inst2014-12-07T00:00:002014Germline mutations in shelterin complex genes are associated with familial glioma.Authorship 859788Authorship 895964Authorship 899201Authorship 967121Authorship 979542Authorship 1095676Authorship 163109225943524Polleys EJ, Bertuch AAG3 (Bethesda, Md.)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.G3 (Bethesda)2015-05-04T00:00:002015Tryptophan-Dependent Control of Colony Formation After DNA Damage via Sea3-Regulated TORC1 Signaling in Saccharomyces cerevisiae.Cancer BiologyLeukemiaMolecular & Cellular OncologyMD AndersonHAGOP MKANTARJIANHAGOP M KANTARJIAN8501KANTARJIAN, HAGOP MProfessorRONALD ADEPINHORONALD A DEPINHO9729DEPINHO, RONALD AProfessorCOURTNEYDINARDOCOURTNEY DINARDO9868DINARDO, COURTNEYAssistant ProfessorAuthorship 560954Authorship 647592Authorship 731932Authorship 7859622014American Society of Clinical Investigators2819862Kim CH, Heath C, Bertuch A, Hansen UProceedings of the National Academy of Sciences of the United States of AmericaSpecific 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.Proc Natl Acad Sci U S A1987-09-01T00:00:001987Specific stimulation of simian virus 40 late transcription in vitro by a cellular factor binding the simian virus 40 21-base-pair repeat promoter element.8784379Flannery TK, Kirkland JL, Copeland KC, Bertuch AA, Karaviti LP, Brandt MLPediatricsPapillary thyroid cancer: a pediatric perspective. Pediatrics. 1996 Sep; 98(3 Pt 1):464-6.Pediatrics1996-09-01T00:00:001996Papillary thyroid cancer: a pediatric perspective.1102 BATESHouston, 77030TX10490336Evans SK, Bertuch AA, Lundblad VTrends in cell biologyTelomeres and telomerase: at the end, it all comes together. Trends Cell Biol. 1999 Aug; 9(8):329-31.Trends Cell Biol1999-08-01T00:00:001999Telomeres and telomerase: at the end, it all comes together.12695685Bertuch AA, Buckley K, Lundblad VCell cycle (Georgetown, Tex.)The way to the end matters--the role of telomerase in tumor progression. Cell Cycle. 2003 Jan-Feb; 2(1):36-8.Cell Cycle2003-01-01T00:00:002003The way to the end matters--the role of telomerase in tumor progression.14585978Bertuch AA, Lundblad VMolecular and cellular biologyThe Ku heterodimer performs separable activities at double-strand breaks and chromosome termini. Mol Cell Biol. 2003 Nov; 23(22):8202-15.Mol Cell Biol2003-11-01T00:00:002003The Ku heterodimer performs separable activities at double-strand breaks and chromosome termini.Authorship 31576015Authorship 3157616Authorship 315762127210295DiNardo 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 KPClinical lymphoma, myeloma & leukemiaEvaluation 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.Clin Lymphoma Myeloma Leuk2016-04-27T00:00:002016Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC).27100794Nelson ND, Marcogliese A, Bergstrom K, Scheurer M, Mahoney D, Bertuch AAPediatric blood & cancerThrombopoietin Measurement as a Key Component in the Evaluation of Pediatric Thrombocytosis. Pediatr Blood Cancer. 2016 08; 63(8):1484-7.Pediatr Blood Cancer2016-04-21T00:00:002016Thrombopoietin Measurement as a Key Component in the Evaluation of Pediatric Thrombocytosis.26400640Bertuch AARNA biologyThe molecular genetics of the telomere biology disorders. RNA Biol. 2016 08 02; 13(8):696-706.RNA Biol2015-09-23T00:00:002015The molecular genetics of the telomere biology disorders.74Professor10Assistant Professor14Associate Professor42Director27354474Gerbing RB, Alonzo TA, Sung L, Gamis AS, Meshinchi S, Plon SE, Bertuch AA, Gramatges MMJournal of clinical oncology : official journal of the American Society of Clinical OncologyShorter 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.J Clin Oncol2016-11-01T00:00:002016Shorter Remission Telomere Length Predicts Delayed Neutrophil Recovery After Acute Myeloid Leukemia Therapy: A Report From the Children's Oncology Group.Authorship 3168287Authorship 316829227240172Emerson CH, Bertuch AABiochemistry and cell biology = Biochimie et biologie cellulaireConsider the workhorse: Nonhomologous end-joining in budding yeast. Biochem Cell Biol. 2016 Oct; 94(5):396-406.Biochem Cell Biol2016-03-31T00:00:002016Consider the workhorse: Nonhomologous end-joining in budding yeast.JOHNTAINERJOHN TAINER11926TAINER, JOHNProfessor17609631Louis CU, Paulino AC, Gottschalk S, Bertuch AA, Chintagumpala M, Heslop HE, Russell HVJournal of pediatric hematology/oncologyA 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.J Pediatr Hematol Oncol2007-07-01T00:00:002007A single institution experience with pediatric nasopharyngeal carcinoma: high incidence of toxicity associated with platinum-based chemotherapy plus IMRT.18485616Muscal JA, Jones JY, Paulino AC, Bertuch AA, Su J, Woo SY, Mahoney DH, Chintagumpala MInternational journal of radiation oncology, biology, physicsChanges mimicking new leptomeningeal disease after intensity-modulated radiotherapy for medulloblastoma. Int J Radiat Oncol Biol Phys. 2009 Jan 01; 73(1):214-21.Int J Radiat Oncol Biol Phys2008-05-15T00:00:002008Changes mimicking new leptomeningeal disease after intensity-modulated radiotherapy for medulloblastoma.21865325Canudas S, Houghtaling BR, Bhanot M, Sasa G, Savage SA, Bertuch AA, Smith SGenes & developmentA role for heterochromatin protein 1? at human telomeres. Genes Dev. 2011 Sep 01; 25(17):1807-19.Genes Dev2011-08-24T00:00:002011A role for heterochromatin protein 1? at human telomeres.17351632Ribes-Zamora A, Mihalek I, Lichtarge O, Bertuch AANature structural & molecular biologyDistinct faces of the Ku heterodimer mediate DNA repair and telomeric functions. Nat Struct Mol Biol. 2007 Apr; 14(4):301-7.Nat Struct Mol Biol2007-03-11T00:00:002007Distinct faces of the Ku heterodimer mediate DNA repair and telomeric functions.16682180Bertuch AA, Lundblad VCurrent opinion in cell biologyThe maintenance and masking of chromosome termini. Curr Opin Cell Biol. 2006 Jun; 18(3):247-53.Curr Opin Cell Biol2006-05-08T00:00:002006The maintenance and masking of chromosome termini.19622731Indiviglio SM, Bertuch AAProceedings of the National Academy of Sciences of the United States of AmericaKu's essential role in keeping telomeres intact. Proc Natl Acad Sci U S A. 2009 Jul 28; 106(30):12217-8.Proc Natl Acad Sci U S A2009-07-21T00:00:002009Ku's essential role in keeping telomeres intact.Authorship 65229662Authorship 6527882Authorship 654403127577878Stray-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, R?dningen 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, Tj?nnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nord?y I, J?rgensen SF, Abrahamsen TG, ?verland 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, Flat? 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 JRThe Journal of allergy and clinical immunologyPrimary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245.J Allergy Clin Immunol2016-07-16T00:00:002016Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.27824607Khincha 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 SAThe European respiratory journalPulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders. Eur Respir J. 2017 01; 49(1).Eur Respir J2017-01-25T00:00:002017Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders.28030425Patel KR, Bertuch A, Sasa GS, Himes RW, Wu HJournal of pediatric gastroenterology and nutritionFeatures of Hepatitis in Hepatitis-associated Aplastic Anemia: Clinical and Histopathologic Study. J Pediatr Gastroenterol Nutr. 2017 01; 64(1):e7-e12.J Pediatr Gastroenterol Nutr2017-01-01T00:00:002017Features of Hepatitis in Hepatitis-associated Aplastic Anemia: Clinical and Histopathologic Study.19671751Horton TM, Jenkins G, Pati D, Zhang L, Dolan ME, Ribes-Zamora A, Bertuch AA, Blaney SM, Delaney SL, Hegde M, Berg SLMolecular cancer therapeuticsPoly(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.Mol Cancer Ther2009-08-11T00:00:002009Poly(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.19763176Liti G, Haricharan S, Cubillos FA, Tierney AL, Sharp S, Bertuch AA, Parts L, Bailes E, Louis EJPLoS geneticsSegregating YKU80 and TLC1 alleles underlying natural variation in telomere properties in wild yeast. PLoS Genet. 2009 Sep; 5(9):e1000659.PLoS Genet2009-09-18T00:00:002009Segregating YKU80 and TLC1 alleles underlying natural variation in telomere properties in wild yeast.20162687Yustein JT, Rednam S, Bertuch AA, Goss JA, Brandt ML, Eldin K, Lu X, Hicks JPediatric blood & cancerAbdominal undifferentiated small round cell tumor with unique translocation (X;19)(q13;q13.3). Pediatr Blood Cancer. 2010 Jul 01; 54(7):1041-4.Pediatr Blood Cancer2010-07-01T00:00:002010Abdominal undifferentiated small round cell tumor with unique translocation (X;19)(q13;q13.3).20841475Stewart SA, Bertuch AACancer researchThe role of telomeres and telomerase in cancer research. Cancer Res. 2010 Oct 01; 70(19):7365-71.Cancer Res2010-09-14T00:00:002010The role of telomeres and telomerase in cancer research.21189492Savage SA, Bertuch AAGenetics in medicine : official journal of the American College of Medical GeneticsThe genetics and clinical manifestations of telomere biology disorders. Genet Med. 2010 Dec; 12(12):753-64.Genet Med2010-12-01T00:00:002010The genetics and clinical manifestations of telomere biology disorders.21477109Sasa GS, Ribes-Zamora A, Nelson ND, Bertuch AAClinical geneticsThree novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. Clin Genet. 2012 May; 81(5):470-8.Clin Genet2011-04-07T00:00:002011Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.21852961Lopez CR, Ribes-Zamora A, Indiviglio SM, Williams CL, Haricharan S, Bertuch AAPLoS geneticsKu must load directly onto the chromosome end in order to mediate its telomeric functions. PLoS Genet. 2011 Aug; 7(8):e1002233.PLoS Genet2011-08-11T00:00:002011Ku must load directly onto the chromosome end in order to mediate its telomeric functions.21113083Gramatges MM, Bertuch AAAgingMeasuring relative telomere length: is tissue an issue? Aging (Albany NY). 2010 Nov; 2(11):756-7.Aging (Albany NY)2010-11-01T00:00:002010Measuring relative telomere length: is tissue an issue?22389089DeLario MR, Sheehan AM, Ataya R, Bertuch AA, Vega C, Webb CR, Lopez-Terrada D, Venkateswaran LAmerican journal of hematologyClinical, histopathologic, and genetic features of pediatric primary myelofibrosis--an entity different from adults. Am J Hematol. 2012 May; 87(5):461-4.Am J Hematol2012-03-03T00:00:002012Clinical, histopathologic, and genetic features of pediatric primary myelofibrosis--an entity different from adults.23176708Cheung HC, San Lucas FA, Hicks S, Chang K, Bertuch AA, Ribes-Zamora ABMC genomicsAn S/T-Q cluster domain census unveils new putative targets under Tel1/Mec1 control. BMC Genomics. 2012 Nov 23; 13:664.BMC Genomics2012-11-23T00:00:002012An S/T-Q cluster domain census unveils new putative targets under Tel1/Mec1 control.Authorship 101912223538340Gramatges MM, Qi X, Sasa GS, Chen JJ, Bertuch AABloodA 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.Blood2013-03-28T00:00:002013A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome.Authorship 870310628574201Donohue RE, Marcogliese AN, Sasa GS, Elghetany MT, Redkar AA, Bertuch AA, Curry CVCytometry. Part B, Clinical cytometryStandardized 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.Cytometry B Clin Cytom2017-06-27T00:00:002017Standardized high-sensitivity flow cytometry testing for paroxysmal nocturnal hemoglobinuria in children with acquired bone marrow failure disorders: A single center US study.9728393Bertuch A, Lundblad VTrends in cell biologyTelomeres and double-strand breaks: trying to make ends meet. Trends Cell Biol. 1998 Sep; 8(9):339-42.Trends Cell Biol1998-09-01T00:00:001998Telomeres and double-strand breaks: trying to make ends meet.Authorship 104185514522942Bertuch AA, Lundblad VGenes & developmentWhich end: dissecting Ku's function at telomeres and double-strand breaks. Genes Dev. 2003 Oct 01; 17(19):2347-50.Genes Dev2003-10-01T00:00:002003Which end: dissecting Ku's function at telomeres and double-strand breaks.15126387Bertuch AA, Lundblad VGeneticsEXO1 contributes to telomere maintenance in both telomerase-proficient and telomerase-deficient Saccharomyces cerevisiae. Genetics. 2004 Apr; 166(4):1651-9.Genetics2004-04-01T00:00:002004EXO1 contributes to telomere maintenance in both telomerase-proficient and telomerase-deficient Saccharomyces cerevisiae.16254002Hermanns P, Bertuch AA, Bertin TK, Dawson B, Schmitt ME, Shaw C, Zabel B, Lee BHuman molecular geneticsConsequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. Hum Mol Genet. 2005 Dec 01; 14(23):3723-40.Hum Mol Genet2005-10-27T00:00:002005Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.19340853Russell H, Hicks MJ, Bertuch AA, Chintagumpala MPediatric blood & cancerInfantile fibrosarcoma: clinical and histologic responses to cytotoxic chemotherapy. Pediatr Blood Cancer. 2009 Jul; 53(1):23-7.Pediatr Blood Cancer2009-07-01T00:00:002009Infantile fibrosarcoma: clinical and histologic responses to cytotoxic chemotherapy.Authorship 8776848Authorship 8776856Authorship 8776861719652176Marvin ME, Becker MM, Noel P, Hardy S, Bertuch AA, Louis EJGeneticsThe association of yKu with subtelomeric core X sequences prevents recombination involving telomeric sequences. Genetics. 2009 Oct; 183(2):453-67, 1SI-13SI.Genetics2009-08-03T00:00:002009The association of yKu with subtelomeric core X sequences prevents recombination involving telomeric sequences.20018194Olofsson P, Bertuch AAJournal of theoretical biologyModeling growth and telomere dynamics in Saccharomyces cerevisiae. J Theor Biol. 2010 Apr 07; 263(3):353-9.J Theor Biol2009-12-16T00:00:002009Modeling growth and telomere dynamics in Saccharomyces cerevisiae.21745483Nelson ND, Bertuch AAMutation researchDyskeratosis congenita as a disorder of telomere maintenance. Mutat Res. 2012 Feb 01; 730(1-2):43-51.Mutat Res2011-07-02T00:00:002011Dyskeratosis congenita as a disorder of telomere maintenance.22691122Churpek JE, Lorenz R, Nedumgottil S, Onel K, Olopade OI, Sorrell A, Owen CJ, Bertuch AA, Godley LALeukemia & lymphomaProposal 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.Leuk Lymphoma2012-07-09T00:00:002012Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes.29296959Fisher KE, Hsu AP, Williams CL, Sayeed H, Merritt BY, Elghetany MT, Holland SM, Bertuch AA, Gramatges MMBlood advancesSomatic mutations in children with GATA2-associated myelodysplastic syndrome who lack other features of GATA2 deficiency. Blood Adv. 2017 Feb 28; 1(7):443-448.Blood Adv2017-02-27T00:00:002017Somatic mutations in children with GATA2-associated myelodysplastic syndrome who lack other features of GATA2 deficiency.29290466Chen H, Xue J, Churikov D, Hass EP, Shi S, Lemon LD, Luciano P, Bertuch AA, Zappulla DC, G?li V, Wu J, Lei MCellStructural Insights into Yeast Telomerase Recruitment to Telomeres. Cell. 2018 01 11; 172(1-2):331-343.e13.Cell2017-12-28T00:00:002017Structural Insights into Yeast Telomerase Recruitment to Telomeres.29092827Xia 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 DCBloodSomatic mutations and clonal hematopoiesis in congenital neutropenia. Blood. 2018 01 25; 131(4):408-416.Blood2017-11-01T00:00:002017Somatic mutations and clonal hematopoiesis in congenital neutropenia.Authorship 8835049Authorship 885183929500182Emerson CH, Lopez CR, Ribes-Zamora A, Polleys EJ, Williams CL, Yeo L, Zaneveld JE, Chen R, Bertuch AAGeneticsKu 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.Genetics2018-03-02T00:00:002018Ku DNA End-Binding Activity Promotes Repair Fidelity and Influences End-Processing During Nonhomologous End-Joining in Saccharomyces cerevisiae.29581185Nelson ND, Dodson LM, Escudero L, Sukumar AT, Williams CL, Mihalek I, Baldan A, Baird DM, Bertuch AAMolecular and cellular biologyThe 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).Mol Cell Biol2018-05-29T00:00:002018The 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.true1ProfessorProfessortrue1ProfessorProfessortrue1ProfessorProfessortrue1Associate ProfessorAssociate Professortrue1Assistant ProfessorAssistant ProfessorAuthorship 1069976Authorship 8906502Authorship 8906511629853525Khincha PP, Bertuch AA, Gadalla SM, Giri N, Alter BP, Savage SABlood advancesSimilar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita. Blood Adv. 2018 06 12; 2(11):1243-1249.Blood Adv2018-06-12T00:00:002018Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita.29784638Magoulas PL, Shchelochkov OA, Bainbridge MN, Ben-Shachar S, Yatsenko S, Potocki L, Lewis RA, Searby C, Marcogliese AN, Elghetany MT, Zapata G, Hern?ndez PP, Gadkari M, Einhaus D, Muzny DM, Gibbs RA, Bertuch AA, Scott DA, Corvera S, Franco LMBloodSyndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN. Blood. 2018 08 09; 132(6):658-662.Blood2018-05-21T00:00:002018Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.D012441Living Beings2206200.73693Saccharomyces cerevisiae30158690Yuan 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 PGenetics in medicine : official journal of the American College of Medical GeneticsClinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 03; 21(3):663-675.Genet Med2018-08-30T00:00:002018Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.true1Assistant ProfessorAssistant Professortrue1Assistant ProfessorAssistant ProfessorD019098Chemicals & Drugs2235290.762009TelomeraseD016615Anatomy2125080.762768TelomereAuthorship 104643D034501Chemicals & Drugs61850.9315Telomere-Binding ProteinsAuthorship 91632531Authorship 91686045Authorship 9329486Authorship 936431330277109Foster JH, Williams CL, Elghetany MT, Liu P, Krance RA, Bertuch AA, Gramatges MMLeukemia & lymphomaMonozygotic twins with non-Down syndrome associated MLL-rearranged hematologic malignancy and megakaryoblastic differentiation. Leuk Lymphoma. 2019 04; 60(4):1083-1086.Leuk Lymphoma2018-10-02T00:00:002018Monozygotic twins with non-Down syndrome associated MLL-rearranged hematologic malignancy and megakaryoblastic differentiation.30198636Hashmi SK, Bergstrom K, Bertuch AA, Despotovic JM, Muscal E, Xia F, Bi W, Marcogliese A, Diaz RPediatric blood & cancerPSTPIP1-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.Pediatr Blood Cancer2018-09-10T00:00:002018PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome: A rare cause of childhood neutropenia associated with systemic inflammation and hyperzincemia.30168024Higgs 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, 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)AngiogenesisUnderstanding the evolving phenotype of vascular complications in telomere biology disorders. Angiogenesis. 2019 02; 22(1):95-102.Angiogenesis2018-08-25T00:00:002018Understanding the evolving phenotype of vascular complications in telomere biology disorders.2023-12-31NIHBERTUCH, ALISON A2017-01-01THE ROLE OF TELOMERASE REGULATORS IN TELOMERE MAINTENANCE AND GENOMIC INSTABILITYR01CA2116532026-06-30NIHBERTUCH, ALISON A ;HOCKEMEYER, DIRK2016-05-15Molecular Genetics of the Telomere Biology DisordersR01HL1317442005-01-31NIHBERTUCH, ALISON ANN1999-02-10KU COMPLEX AND TELOMERE END PROTECTIONK08HD0012312019-09-30NIHBERTUCH, ALISON A2007-09-21Roles of Ku and its interaction partners in telomere function and DNA repairR01GM077509Principal InvestigatorPrincipal InvestigatorPrincipal InvestigatorD019871Disorders13260.971763Dyskeratosis CongenitaDepartment of PediatricsDepartment of Molecular & Human GeneticsDepartment of Pathology & ImmunologyHuffington Center on AgingHuffington Ctr on AgingMolecular & Human GeneticsPathologyPediatrics-HematologyPediatrics-OncologyBaylor College of MedicineMOHAMEDELGHETANYMOHAMED ELGHETANY0.000000000000000.000000000000001624ELGHETANY, MOHAMEDProfessor111groups8.260220.00267066451research areas2.03040.0174364107coauthor of111.69713.30160similar to1186selected publicationsMARIAGRAMATGESMARIA GRAMATGES0.000000000000000.000000000000001586GRAMATGES, MARIAProfessorYOUNGNAKIMYOUNGNA KIM0.000000000000000.00000000000000474KIM, YOUNGNAAssociate ProfessorJAMESLUPSKIJAMES LUPSKI29.71073630000000-95.396604500000003140LUPSKI, JAMESProfessorFERNANDOSCAGLIAFERNANDO SCAGLIA29.70508570000000-95.401808700000003584SCAGLIA, FERNANDOProfessorJONATHANFLANAGANJONATHAN FLANAGAN0.000000000000000.000000000000003971FLANAGAN, JONATHANAssistant ProfessorGRZEGORZIRAGRZEGORZ IRA29.71073630000000-95.39660450000000927IRA, GRZEGORZProfessorAuthorship 9419861730773277Burrage 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 BAmerican journal of human geneticsBi-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.Am J Hum Genet2019-02-14T00:00:002019Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.RICHARDGIBBSRICHARD GIBBS0.000000000000000.000000000000003131GIBBS, RICHARDDistinguished Service ProfessorGLADSTONEAIREWELEGLADSTONE AIREWELE0.000000000000000.000000000000003478AIREWELE, GLADSTONEProfessorAMANDAGRIMESAMANDA GRIMES0.000000000000000.000000000000004365GRIMES, AMANDAAssistant ProfessorAuthorship 944667430948484Rogers 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 AHaematologicaImmunosuppressive therapy for pediatric aplastic anemia: a North American Pediatric Aplastic Anemia Consortium study. Haematologica. 2019 10; 104(10):1974-1983.Haematologica2019-04-04T00:00:002019Immunosuppressive therapy for pediatric aplastic anemia: a North American Pediatric Aplastic Anemia Consortium study.Authorship 946280231050187Agrusa JE, Bertuch AA, DiNardo CD, Plon SE, Eckstein OSPediatric blood & cancerSevere 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.Pediatr Blood Cancer2019-05-02T00:00:002019Severe therapy-related toxicities after treatment for Hodgkin lymphoma due to a pathogenic TERT variant and shortened telomeres.Authorship 128182524095731Ribes-Zamora A, Indiviglio SM, Mihalek I, Williams CL, Bertuch AACell reportsTRF2 interaction with Ku heterotetramerization interface gives insight into c-NHEJ prevention at human telomeres. Cell Rep. 2013 Oct 17; 5(1):194-206.Cell Rep2013-10-03T00:00:002013TRF2 interaction with Ku heterotetramerization interface gives insight into c-NHEJ prevention at human telomeres.Authorship 107371Authorship 952506331337791Lemon LD, Morris DK, Bertuch AAScientific reportsLoss 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.Sci Rep2019-07-23T00:00:002019Loss of Ku's DNA end binding activity affects telomere length via destabilizing telomere-bound Est1 rather than altering TLC1 homeostasis.Authorship 954442931448843Dodson LM, Baldan A, Nissbeck M, Gunja SMR, Bonnen PE, Aubert G, Birchansky S, Virtanen A, Bertuch AAHuman mutationFrom 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.Hum Mutat2019-09-15T00:00:002019From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants.Dr. Shaulsky's GroupMemberAuthorship 9578091731648317Luo 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, Soulier J, Raimbault A, Routbort MJ, Zhang L, Ryan G, Speck NA, Plon SE, Wu D, Godley LABlood advancesClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants. Blood Adv. 2019 10 22; 3(20):2962-2979.Blood Adv2019-10-22T00:00:002019ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.true1ProfessorProfessorTITILOPEFASIPETITILOPE FASIPE0.000000000000000.000000000000006021FASIPE, TITILOPEAssistant ProfessorAuthorship 987733732313107Tomlinson CG, Sasa G, Aubert G, Martin-Giacalone B, Plon SE, Bryan TM, Bertuch AA, Gramatges MMLeukemiaClinical and functional characterization of telomerase variants in patients with pediatric acute myeloid leukemia/myelodysplastic syndrome. Leukemia. 2021 01; 35(1):269-273.Leukemia2020-04-21T00:00:002020Clinical and functional characterization of telomerase variants in patients with pediatric acute myeloid leukemia/myelodysplastic syndrome.Authorship 9967633Authorship 9969191632776425Pulsipher 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 DAPediatric blood & cancerA 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.Pediatr Blood Cancer2020-08-09T00:00:002020A 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.32790018Bhar S, Zhou F, Reineke LC, Morris DK, Khincha PP, Giri N, Mirabello L, Bergstrom K, Lemon LD, Williams CL, Toh Y, Elghetany MT, Lloyd RE, Alter BP, Savage SA, Bertuch AAHuman mutationExpansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia. Hum Mutat. 2020 11; 41(11):1918-1930.Hum Mutat2020-08-30T00:00:002020Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia.Principal InvestigatorAuthorship 999272732909658Pillai NR, Amin H, Gijavanekar C, Liu N, Issaq N, Broniowska KA, Bertuch AA, Sutton VR, Elsea SH, Scaglia FAmerican journal of medical genetics. Part AHematologic 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.Am J Med Genet A2020-09-10T00:00:002020Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency.Authorship 100004925Authorship 9998813532958778Chakravarti 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 RANature communicationsTelomere dysfunction activates YAP1 to drive tissue inflammation. Nat Commun. 2020 09 21; 11(1):4766.Nat Commun2020-09-21T00:00:002020Telomere dysfunction activates YAP1 to drive tissue inflammation.32971146Himes 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 AAThe Journal of pediatricsGastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders. J Pediatr. 2021 03; 230:55-61.e4.J Pediatr2020-09-21T00:00:002020Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders.http://www.ncbi.nlm.nih.gov/sites/myncbi/1JQ96hdQp9oA8/bibliography/48962006/public/?sort=date&direction=ascendingComplete List of Published Work in MyBibliographyAuthorship 1008846433446513Henslee G, Williams CL, Liu P, Bertuch AACold Spring Harbor molecular case studiesIdentification 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).Cold Spring Harb Mol Case Stud2021-02-19T00:00:002021Identification and characterization of novel ACD variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere length.Authorship 10124341733637765Kennedy 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, Keel S, 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 RCNature communicationsDistinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome. Nat Commun. 2021 02 26; 12(1):1334.Nat Commun2021-02-26T00:00:002021Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.2019American Pediatric Society2012Society for Pediatric ResearchBaylor College of Medicine, Department of Pediatrics2012Research Mentorship AwardAuthorship 1023786634159722Markovitz R, Owen N, Satter LF, Kirk S, Mahoney DH, Bertuch AA, Scaglia FAmerican journal of medical genetics. Part AExpansion of the clinical phenotype of GALE deficiency. Am J Med Genet A. 2021 10; 185(10):3118-3121.Am J Med Genet A2021-06-22T00:00:002021Expansion of the clinical phenotype of GALE deficiency.Authorship 10271482334342889Shimano 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 JAmerican journal of hematologyDiagnostic 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.Am J Hematol2021-08-20T00:00:002021Diagnostic work-up for severe aplastic anemia in children: Consensus of the North American Pediatric Aplastic Anemia Consortium.Authorship 10288501634469508Kozyra EJ, G?hring G, Hickstein DD, Calvo KR, DiNardo CD, Dworzak M, de Haas V, Star? J, Hasle H, Shimamura A, Fleming MD, Inaba H, Lewis S, Hsu AP, Holland SM, Arnold DE, Mecucci C, Keel SB, Bertuch AA, Tawana K, Barzilai S, Hirabayashi S, Onozawa M, Lei S, Alaiz H, Andrikovics H, Betts D, Beverloo BH, Buechner J, Cerm?k M, Cervera J, Haus O, Jahnukainen K, Manola KN, Nebral K, Pasquali F, Tchinda J, Turkiewicz D, Van Roy N, Zemanova Z, Pastor VB, Strahm B, Noellke P, Niemeyer CM, Schlegelberger B, Yoshimi A, Wlodarski MWBloodAssociation of unbalanced translocation der(1;7) with germline GATA2 mutations. Blood. 2021 12 09; 138(23):2441-2445.Blood2021-12-09T00:00:002021Association of unbalanced translocation der(1;7) with germline GATA2 mutations.true1Distinguished Service ProfessorDistinguished Service ProfessorAuthorship 103336220Authorship 10339361034758064Furutani 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 ABlood advancesHematologic complications with age in Shwachman-Diamond syndrome. Blood Adv. 2022 01 11; 6(1):297-306.Blood Adv2022-01-11T00:00:002022Hematologic complications with age in Shwachman-Diamond syndrome.34824242Thongon 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 SNature communicationsHematopoiesis under telomere attrition at the single-cell resolution. Nat Commun. 2021 11 25; 12(1):6850.Nat Commun2021-11-25T00:00:002021Hematopoiesis under telomere attrition at the single-cell resolution.Authorship 1041805535362179Kumar RD, Tosur M, Lalani SR, Mahoney DH, Bertuch AAAmerican journal of medical genetics. Part AThe germline p53 activation syndrome: A new patient further refines the clinical phenotype. Am J Med Genet A. 2022 07; 188(7):2204-2208.Am J Med Genet A2022-04-01T00:00:002022The germline p53 activation syndrome: A new patient further refines the clinical phenotype.Authorship 1043929735421215Choo S, Lorbeer FK, Regalado SG, Short SB, Wu S, Rieser G, Bertuch AA, Hockemeyer DBloodEditing TINF2 as a potential therapeutic approach to restore telomere length in dyskeratosis congenita. Blood. 2022 08 11; 140(6):608-618.Blood2022-08-11T00:00:002022Editing TINF2 as a potential therapeutic approach to restore telomere length in dyskeratosis congenita.Authorship 136195223732052Gramatges MM, Bertuch AATranslational research : the journal of laboratory and clinical medicineShort telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy. Transl Res. 2013 Dec; 162(6):353-63.Transl Res2013-06-01T00:00:002013Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy.Twitter Tweets Harvard TweetsBaylor College of Medicine2022Master Clinician Awardtrue1ProfessorProfessor2ProfessorProfessor3ProfessorProfessor36219480Olson 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 DVJCI insightPathogenicity and impact of HLA class I alleles in aplastic anemia patients of different ethnicities. JCI Insight. 2022 11 22; 7(22).JCI Insight2022-11-22T00:00:002022Pathogenicity and impact of HLA class I alleles in aplastic anemia patients of different ethnicities.Authorship 105840830Authorship 1058152336151328Revy P, Kannengiesser C, Bertuch AANature reviews. GeneticsGenetics of human telomere biology disorders. Nat Rev Genet. 2023 02; 24(2):86-108.Nat Rev Genet2022-09-23T00:00:002022Genetics of human telomere biology disorders.Authorship 1067295737003504Jones CY, Williams CL, Moreno SP, Morris DK, Mondello C, Karlseder J, Bertuch AAThe Journal of biological chemistryHyperextended telomeres promote formation of C-circle DNA in telomerase positive human cells. J Biol Chem. 2023 05; 299(5):104665.J Biol Chem2023-03-30T00:00:002023Hyperextended telomeres promote formation of C-circle DNA in telomerase positive human cells.Authorship 1068235237067177Lozano Chinga MM, Bertuch AA, Afify Z, Dollerschell K, Hsu JI, John TD, Rao ES, Rowe RG, Sankaran VG, Shimamura A, Williams DA, Nakano TAAmerican journal of medical genetics. Part AExpanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM-associated syndromes. Am J Med Genet A. 2023 07; 191(7):1826-1835.Am J Med Genet A2023-04-17T00:00:002023Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM-associated syndromes.Authorship 137674true1ProfessorProfessortrue1ProfessorProfessorAuthorship 173721true1ProfessorProfessortrue1Assistant ProfessorAssistant Professortrue1ProfessorProfessortrue1ProfessorProfessorAuthorship 139817324285674Williams 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 APediatric blood & cancerDiagnosis 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.Pediatr Blood Cancer2013-11-27T00:00:002013Diagnosis and treatment of pediatric acquired aplastic anemia (AAA): an initial survey of the North American Pediatric Aplastic Anemia Consortium (NAPAAC).Authorship 1399284Authorship 143111724567323Hang LE, Lopez CR, Liu X, Williams JM, Chung I, Wei L, Bertuch AA, Zhao XThe Journal of biological chemistryRegulation of Ku-DNA association by Yku70 C-terminal tail and SUMO modification. J Biol Chem. 2014 Apr 11; 289(15):10308-10317.J Biol Chem2014-02-24T00:00:002014Regulation of Ku-DNA association by Yku70 C-terminal tail and SUMO modification.Authorship 143541324879463Williams JM, Ouenzar F, Lemon LD, Chartrand P, Bertuch AAGeneticsThe principal role of Ku in telomere length maintenance is promotion of Est1 association with telomeres. Genetics. 2014 Aug; 197(4):1123-36.Genetics2014-05-30T00:00:002014The principal role of Ku in telomere length maintenance is promotion of Est1 association with telomeres.Authorship 529812Authorship 1458171324898207Carvalho CM, Zuccherato LW, Williams CL, Neill NJ, Murdock DR, Bainbridge M, Jhangiani SN, Muzny DM, Gibbs RA, Ip W, Guillerman RP, Lupski JR, Bertuch AABMC medical geneticsStructural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. BMC Med Genet. 2014 Jun 04; 15:64.BMC Med Genet2014-06-04T00:00:002014Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.Authorship 441151Authorship 631547Authorship 635272Authorship 147383425073507Stray-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 LMJournal of clinical immunologyCompound 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.J Clin Immunol2014-07-30T00:00:002014Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.Authorship 548244Authorship 567112Authorship 853945Authorship 630753Authorship 892255Authorship 672206Authorship 68804Authorship 698851Authorship 749103Authorship 1551601Authorship 1558204