出版物 打印 Abdelaziz RM, Faldu P, Fathima S, Zepeda Mendoza CJ, Pardanani A, He R, Orazi A, Reichard KK, Gangat N, Tefferi A. Myeloproliferative Neoplasms-Unclassifiable (MPN-U): A Carefully Curated Series of 30 Mayo Clinic Patients. Am J Hematol. 2025 Sep 23. View PubMed Elhaik E, Behnamian S, Howe M, Tang H, Yan H, Tian S, Shivaram S, Zepeda Mendoza C, MacLachlan K, Usmani S, Pirooznia M, Morgan G, Blaney P, Maura F, Baughn LB. AncestryGeni: a novel genetic ancestry classification pipeline for small and noisy sequence data. Bioinformatics. 2025 Jul 1; 41 (7) View PubMed Fathima S, Abdelmagid M, Alsugair A, Begna KH, Al-Kali A, Mangaonkar AA, Pardanani AD, Patnaik MM, Zepeda Mendoza CJ, He R, Reichard KK, Badar T, Foran JM, Palmer J, Loscocco GG, Guglielmelli P, Vannucchi AM, Orazi A, Arber DA, Hiwase D, Shah MV, Gangat N, Tefferi A. Multihit TP53 Mutations in Myeloproliferative Neoplasms and Acute Myeloid Leukemia: Comparative Analysis of Survival and Risk Factors in 142 Informative Cases. Am J Hematol. 2025 Jun; 100 (6):1010-1018 Epub 2025 Mar 13 View PubMed Faldu P, Yousuf M, Abdelmagid M, Dingli S, Begna K, Zepeda Mendoza CJ, Reichard KK, He R, Pardanani A, Gangat N, Tefferi A. Basophilia and eosinophilia in polycythemia vera and essential thrombocythemia: clinical, genotype, and prognostic correlates. Ann Hematol. 2025 Jun; 104 (6):3223-3234 Epub 2025 June 14 View PubMed Tefferi A, Abdelmagid M, Loscocco GG, Fathima S, Begna KH, Al-Kali A, Foran J, Palmer J, Badar T, Patnaik MM, Reichard KK, He R, Zepeda Mendoza CJ, Shah M, Orazi A, Arber DA, Pardanani A, Vannucchi AM, Hiwase D, Gangat N, Guglielmelli P. TP53 Mutations in Myeloproliferative Neoplasms: Context-Dependent Evaluation of Prognostic Relevance. Am J Hematol. 2025 Apr; 100 (4):552-560 Epub 2025 Jan 28 View PubMed Fathima S, Alsugair A, He R, Mangaonkar AA, Begna KH, Pardanani A, Zepeda Mendoza CJ, Reichard KK, Gangat N, Tefferi A. Myeloid neoplasms with PHF6 mutations: context-dependent genomic and prognostic characterization in 176 informative cases. Blood Cancer J. 2025 Mar 1; 15 (1):28 Epub 2025 Mar 01 View PubMed Vizcaino MA, Giannini C, Vaubel RA, Nguyen AT, Trejo-Lopez JA, Raghunathan A, Jenkins SM, Jenkins RB, Zepeda Mendoza CJ. Comparing loss of p16 and MTAP expression in detecting CDKN2A homozygous deletion in pleomorphic xanthoastrocytoma. J Neuropathol Exp Neurol. 2024 Dec 1; 83 (12):1003-1009 View PubMed Matalon DR, Zepeda-Mendoza CJ, Aarabi M, Brown K, Fullerton SM, Kaur S, Quintero-Rivera F, Vatta M, ACMG Social, Ethical and Legal Issues Committee and the ACMG Diversity, Equity and Inclusion Committee. Electronic address: documents@acmg.net. Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023 Jun; 25 (6):100812 Epub 2023 Apr 14 View PubMed Sharma N, Smadbeck JB, Abdallah N, Zepeda-Mendoza C, Binder M, Pearce KE, Asmann YW, Peterson JF, Ketterling RP, Greipp PT, Bergsagel PL, Rajkumar SV, Kumar SK, Baughn LB. The Prognostic Role of MYC Structural Variants Identified by NGS and FISH in Multiple Myeloma. Clin Cancer Res. 2021 Oct 1; 27 (19):5430-5439 View PubMed Zepeda-Mendoza CJ, Essendrup A, Smoley SA, Johnson SH, Hoppman NL, Vasmatzis G, Jackson DL, Kearney HM, Baughn LB. Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia. Clin Case Rep. 2021 Feb; 9 (2):769-774 Epub 2020 Dec 10 View PubMed Srikanth S, Jain L, Zepeda-Mendoza C, Cascio L, Jones K, Pauly R, DuPont B, Rogers C, Sarasua S, Phelan K, Morton C, Boccuto L. Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome. PLoS One. 2021; 16 (7):e0253859 Epub 2021 July 06 View PubMed Zepeda-Mendoza CJ, Vaubel RA, Zarei S, Ida CM, Matthews M, Acree S, Raghunathan A, Giannini C, Jenkins RB. Concomitant 1p/19q co-deletion and IDH1/2, ATRX, and TP53 mutations within a single clone of "dual-genotype" IDH-mutant infiltrating gliomas. Acta Neuropathol. 2020 Jun; 139 (6):1105-1107 Epub 2020 Mar 13 View PubMed Zepeda-Mendoza CJ, Cousin MA, Basu S, Jenkinson G, Oliver G, Pittock ST, Baughn LB, Klee EW, Babovic-Vuksanovic D. An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I. Cold Spring Harb Mol Case Stud. 2019 Dec; 5 (6) Epub 2019 Dec 13 View PubMed Blackburn PR, Zepeda-Mendoza CJ, Kruisselbrink TM, Schimmenti LA, Garcia-Minaur S, Palomares M, Nevado J, Mori MA, Le Meur G, Klee EW, Le Caignec C, Lapunzina P, Isidor B, Babovic-Vuksanovic D. Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases. Eur J Hum Genet. 2019 Sep; 27 (9):1379-1388 Epub 2019 May 03 View PubMed Zepeda-Mendoza C, Goodenberger ML, Kuhl A, Rice GM, Hoppman N. Familial segregation of a 5q15-q21.2 deletion associated with facial dysmorphism and speech delay. Clin Case Rep. 2019 Jun; 7 (6):1154-1160 Epub 2019 May 04 View PubMed Zepeda-Mendoza CJ, Morton CC. The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders. Am J Hum Genet. 2019 Apr 4; 104 (4):565-577 View PubMed Currall BB, Chen M, Sallari RC, Cotter M, Wong KE, Robertson NG, Penney KL, Lunardi A, Reschke M, Hickox AE, Yin Y, Wong GT, Fung J, Brown KK, Williamson RE, Sinnott-Armstrong NA, Kammin T, Ivanov A, Zepeda-Mendoza CJ, Shen J, Quade BJ, Signoretti S, Arnos KS, Banks AS, Patsopoulos N, Liberman MC, Kellis M, Pandolfi PP, Morton CC. Loss of LDAH associated with prostate cancer and hearing loss. Hum Mol Genet. 2018 Dec 15; 27 (24):4194-4203 View PubMed Zepeda-Mendoza CJ, Menon S, Morton CC. Computational Prediction of Position Effects of Human Chromosome Rearrangements. Curr Protoc Hum Genet. 2018 Apr; 97 (1):e57 Epub 2018 Apr 26 View PubMed Zepeda-Mendoza CJ, Bardon A, Kammin T, Harris DJ, Cox H, Redin C, Ordulu Z, Talkowski ME, Morton CC. Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin. Eur J Hum Genet. 2018 Mar; 26 (3):374-381 Epub 2018 Jan 10 View PubMed Zepeda-Mendoza CJ, Ibn-Salem J, Kammin T, Harris DJ, Rita D, Gripp KW, MacKenzie JJ, Gropman A, Graham B, Shaheen R, Alkuraya FS, Brasington CK, Spence EJ, Masser-Frye D, Bird LM, Spiegel E, Sparkes RL, Ordulu Z, Talkowski ME, Andrade-Navarro MA, Robinson PN, Morton CC. Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements. Am J Hum Genet. 2017 Aug 3; 101 (2):206-217 Epub 2017 July 20 View PubMed Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Bruggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet. 2017 Jan; 49 (1):36-45 Epub 2016 Nov 14 View PubMed Schilit SL, Currall BB, Yao R, Hanscom C, Collins RL, Pillalamarri V, Lee DY, Kammin T, Zepeda-Mendoza CJ, Mononen T, Nolan LS, Gusella JF, Talkowski ME, Shen J, Morton CC. Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay. Eur J Hum Genet. 2016 Nov; 24 (11):1622-1626 Epub 2016 July 06 View PubMed Mukherjee K, Ishii K, Pillalamarri V, Kammin T, Atkin JF, Hickey SE, Xi QJ, Zepeda CJ, Gusella JF, Talkowski ME, Morton CC, Maas RL, Liao EC. Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesisdagger. Hum Mol Genet. 2016 Apr 1; 25 (7):1255-70 Epub 2016 Jan 11 View PubMed Zepeda-Mendoza CJ, Mukhopadhyay S, Wong ES, Harder N, Splinter E, de Wit E, Eckersley-Maslin MA, Ried T, Eils R, Rohr K, Mills A, de Laat W, Flicek P, Sengupta AM, Spector DL. Quantitative analysis of chromatin interaction changes upon a 4.3 Mb deletion at mouse 4E2. BMC Genomics. 2015 Nov 21; 16:982 View PubMed Hogan MS, Parfitt DE, Zepeda-Mendoza CJ, Shen MM, Spector DL. Transient pairing of homologous Oct4 alleles accompanies the onset of embryonic stem cell differentiation. Cell Stem Cell. 2015 Mar 5; 16 (3):275-88 View PubMed Shi J, Whyte WA, Zepeda-Mendoza CJ, Milazzo JP, Shen C, Roe JS, Minder JL, Mercan F, Wang E, Eckersley-Maslin MA, Campbell AE, Kawaoka S, Shareef S, Zhu Z, Kendall J, Muhar M, Haslinger C, Yu M, Roeder RG, Wigler MH, Blobel GA, Zuber J, Spector DL, Young RA, Vakoc CR. Role of SWI/SNF in acute leukemia maintenance and enhancer-mediated Myc regulation. Genes Dev. 2013 Dec 15; 27 (24):2648-62 Epub 2013 Nov 27 View PubMed Zepeda-Mendoza CJ, Lemus T, Yanez O, Garcia D, Valle-Garcia D, Meza-Sosa KF, Gutierrez-Arcelus M, Marquez-Ortiz Y, Dominguez-Vidana R, Gonzaga-Jauregui C, Flores M, Palacios R. Identical repeated backbone of the human genome. BMC Genomics. 2010 Jan 23; 11:60 View PubMed Freeman JL, Adeniyi A, Banerjee R, Dallaire S, Maguire SF, Chi J, Ng BL, Zepeda C, Scott CE, Humphray S, Rogers J, Zhou Y, Zon LI, Carter NP, Yang F, Lee C. Definition of the zebrafish genome using flow cytometry and cytogenetic mapping. BMC Genomics. 2007 Jun 27; 8:195 Epub 2007 June 27 View PubMed Flores M, Morales L, Gonzaga-Jauregui C, Dominguez-Vidana R, Zepeda C, Yanez O, Gutierrez M, Lemus T, Valle D, Avila MC, Blanco D, Medina-Ruiz S, Meza K, Ayala E, Garcia D, Bustos P, Gonzalez V, Girard L, Tusie-Luna T, Davila G, Palacios R. Recurrent DNA inversion rearrangements in the human genome. Proc Natl Acad Sci U S A. 2007 Apr 10; 104 (15):6099-106 Epub 2007 Mar 26 View PubMed PST-20589531 主页 出版物