Publications

Recent Publications from WFU Medical Genetics
(2008 to present)

 

Mrózek K, Carroll AJ, Maharry K, Rao KW, Patil SR,  Pettenati MJ,  Watson MS, Arthur DC,  Tantravahi R, Heerema NA,  Koduru PRK,  Block AW, Qumsiyeh MB,  Edwards CG,  Sterling LJ, Holland KB, Bloomfield CD. Central Review of Cytogenetics is Necessary for Cooperative Group Correlative and Clinical Studies of Adult Acute Leukemia: The Cancer and Leukemia Group B Experience. Int J Oncol. 2008. 33:239-244. 

Lewis EM, Singla M, Sergeant S, Koty PP, McPhail LC. X-linked chronicgranulomatous disease secondary to skewed X chromosome inactivation in a femalewith a novel CYBB mutation and late presentation. Clin Immunol. 2008 129(2):372-80.

Edwards RK, Novak-Weekley SM, Koty PP, Davis T, Leeds LJ, Jordan JA. Rapidgroup B streptococci screening using a real-time polymerase chain reaction assay.Obstet Gynecol. 2008 111(6):1335-41.

Dance-Barnes ST, Kock ND, Floyd HS, Moore JE, Mosley LJ, D’Agostino RB, Pettenati MJ, Miller MS. Effects of Mutant Human Ki-rasG12C Gene Dosage on Murine Lung Tumorigenesis and Signaling to its Downstream Effectors.  Tox App Pharm 2008;231:77-84.  

Schwendemann WD, Contag SA, Koty PP, Miller RC, Devers P, Watson WJ. Ultrasound findings in trisomy 22. Am J Perinatol. 2009 26:135-7.

Coppinger J, McDonald-McGinn D, Zackai E, Shane K, Atkin JF, Asamoah A, Leland R, Weaver DD, Lansky-Shafer S, Schmidt K, Feldman H, Cohen W, Phalin J, Powell B, Ballif BC, Theisen A, Geiger E, Haldeman-Englert C, Shaikh TH, Saitta S, Bejjani BA, Shaffer LG. Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region. Hum Mol Genet. 2009 Apr 15;18(8):1377-83.

Schwendemann WD, Contag SA, Wax JR, Miller RC, Polzin WJ, Koty PP, Watson WJ. Sonographic findings in trisomy 9. J Ultrasound Med. 2009 28:39-42.  

Korbel J,  Tal Tirosh-Wagner T, Eckehart Urban A,  Chen X,  Kasowski M, Dai L, Grubert F,  Erdman C,  Gao M, Lange K,  Sobel E,  Barlow G, Aylsworth A, Carpenter N,  Clark R,  Cohen M,  Doran E,  Tzipora Falik-Zaccai T, Lewin S, Lott I, McGillivray B, Moeschler J, Pettenati MJ, Pueschel S, Rao K,  Shaffer L,  Shohat M,  Van Riper A,  Warburton D, Weissman S,  Gerstein M,  Snyder M,  Korenberg J. The Genetic Architecture of Down Syndrome Phenotypes Revealed by High Resolution Analysis of Human Partial Trisomies. PNAS 2009;106:12031-12036.  

Haldeman-Englert CR, Gai X, Perin JC, Ciano M, Halbach SS, Geiger EA, McDonald-McGinn DM, Hakonarson H, Zackai EH, Shaikh TH. A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay. Eur J Med Genet. 2009 Jul-Aug;52(4):265-8.

Haldeman-Englert CR, Naeem T, Geiger EA, Warnock A, Feret H, Ciano M, Davidson SL, Deardorff MA, Zackai EH, Shaikh TH. A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome. Am J Med Genet A. 2009 Aug;149A(8):1842-5.

Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield JP, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Santa E, Shaner JL, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, Zackai EH, Chiavacci RM, Grundmeier R, Rappaport EF, Grant SF, White PS, Hakonarson H. High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res. 2009 Sep;19(9):1682-90.

McCarthy SE, Makarov V, Kirov G, Addington AM, McClellan J, Yoon S, Perkins DO, Dickel DE, Kusenda M, Krastoshevsky O, Krause V, Kumar RA, Grozeva D, Malhotra D, Walsh T, Zackai EH, Kaplan P, Ganesh J, Krantz ID, Spinner NB, Roccanova P, Bhandari A, Pavon K, Lakshmi B, Leotta A, Kendall J, Lee YH, Vacic V, Gary S, Iakoucheva LM, Crow TJ, Christian SL, Lieberman JA, Stroup TS, Lehtimäki T, Puura K, Haldeman-Englert C, Pearl J, Goodell M, Willour VL, Derosse P, Steele J, Kassem L, Wolff J, Chitkara N, McMahon FJ, Malhotra AK, Potash JB, Schulze TG, Nöthen MM, Cichon S, Rietschel M, Leibenluft E, Kustanovich V, Lajonchere CM, Sutcliffe JS, Skuse D, Gill M, Gallagher L, Mendell NR; Wellcome Trust Case Control Consortium, Craddock N, Owen MJ, O'Donovan MC, Shaikh TH, Susser E, Delisi LE, Sullivan PF, Deutsch CK, Rapoport J, Levy DL, King MC, Sebat J. Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet. 2009 Nov;41(11):1223-7.

Haldeman-Englert CR, Chapman KA, Kruger H, Geiger EA, McDonald-McGinn DM, Rappaport E, Zackai EH, Spinner NB, Shaikh TH. A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21. Am J Med Genet A. 2010 Jan;152A(1):196-202. 

Refai O, Friedman A, Terry L, Jewett T, Pearlman A, Perle MA, Ostrer H. De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development. Am J Med Genet A. 2010 152A(2):422-6.

Keung YK, Beaty MW, Pettenati M, Levitan D, Hurd DD. Possible role of engraftment syndrome and autologous graft-versus-host disease in myelodysplastic syndrome after autologous stem cell transplantations: retrospective analysis and review of the literature. Clin Lymphoma Myeloma Leuk. 2010 10(2):129-33.

Haldeman-Englert CR, Biser A, Zackai EH, Ming JE. A 223-kb de novo deletion of PAX9 in a patient with oligodontia. J Craniofac Surg. 2010 21(3):837-9. 

Sheridan MB, Kato T, Haldeman-Englert C, Jalali GR, Milunsky JM, Zou Y, Klaes R, Gimelli G, Gimelli S, Gemmill RM, Drabkin HA, Hacker AM, Brown J, Tomkins D, Shaikh TH, Kurahashi H, Zackai EH, Emanuel BS. A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21). Am J Hum Genet. 2010 Aug 13;87(2):209-18.

Haldeman-Englert C, Jewett T. 1q21.1 Microdeletion . 2011 Feb 24. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from http://www.ncbi.nlm.nih.gov/books/NBK52787/PubMed  

Shaikh TH, Haldeman-Englert C, Geiger EA, Ponting CP, Webber C. Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes. Hum Mol Genet. 2011 Mar 1;20(5):880-93.

Johnston-MacAnanny EB, Koty P, Pettenati M, Brady M, Yalcinkaya TM, Schmidt DW. The first case described: monozygotic twin sisters with the fragile X premutation but with a different phenotype for premature ovarian failure. Fertil Steril. 2011 Jun;95(7):2431.e13-5.

Robin NH, Falk MJ, Haldeman-Englert CR. FGFR-Related Craniosynostosis Syndromes. 1998 Oct 20 [updated 2011 Jun 07]. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from http://www.ncbi.nlm.nih.gov/books/NBK1455/PubMed  

Shao C, Lu C, Chen L, Koty PP, Cobos E, Gao W. p53-Dependent anticancer effects of leptomycin B on lung adenocarcinoma. Cancer Chemother Pharmacol. 2011 Jun;67(6):1369-80.

Boyadjiev SA, Kim SD, Hata A, Haldeman-Englert C, Zackai EH, Naydenov C, Hamamoto S, Schekman RW, Kim J. Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion. Clin Genet. 2011 Aug;80(2):169-76.

Weckerle AB, Santra M, Ng MC, Koty PP, Wang YH. CBFB and MYH11 in inv(16)(p13q22) of acute myeloid leukemia displaying close spatial proximity in interphase nuclei of human hematopoietic stem cells. Genes Chromosomes Cancer. 2011 Sep;50(9):746-55.

Kuppler KM, Kirse DJ, Thompson JT, Haldeman-Englert CR. Loeys-Dietz syndrome presenting as respiratory distress due to pulmonary artery dilation. Am J Med Genet A. 2012 May;158A(5):1212-5. 

Mrózek K, Marcucci G, Nicolet D, Maharry KS, Becker H, Whitman SP, Metzeler KH, Schwind S, Wu YZ, Kohlschmidt J, Pettenati MJ, Heerema NA, Block AW, Patil SR, Baer MR, Kolitz JE, Moore JO, Carroll AJ, Stone RM, Larson RA, Bloomfield CD. Prognostic Significance of the European LeukemiaNet Standardized System for Reporting Cytogenetic and Molecular Alterations in Adults With Acute Myeloid Leukemia. J Clin Oncol. 2012 Dec 20;30(36):4515-23. doi: 10.1200/JCO.2012.43.4738. Epub 2012 Sep 17.

Chun SY, Mack DL, Moorefield E, Oh SH, Kwon TG, Pettenati MJ, Yoo JJ, Coppi PD, Atala A, Soker S. Pdx1 and controlled culture conditions induced differentiation of human amniotic fluid-derived stem cells to insulin-producing clusters. J Tissue Eng Regen Med. 2012 Nov 13.

Izumi K, Conlin LK, Berrodin D, Fincher C, Wilkens A, Haldeman-Englert C, Saitta SC, Zackai EH, Spinner NB, Krantz ID. Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region. Am J Med Genet A. 2012 Dec;158A(12):3033-45.

Walker A, Mrózek K, Kohlschmidt J, Rao KW, Pettenati MJ, Sterling LJ, Marcucci G, Carroll AJ, Bloomfield CD; for the Alliance for Clinical Trials in Oncology. New recurrent balanced translocations in acute myeloid leukemia and myelodysplastic syndromes: Cancer and leukemia group B 8461. Genes Chromosomes Cancer. 2012 Dec 10.

Schwind S, Edwards CG, Nicolet D, Mrózek K, Maharry K, Wu YZ, Paschka P, Eisfeld AK, Hoellerbauer P, Becker H, Metzeler KH, Curfman J, Kohlschmidt J, Prior TW, Kolitz JE, Blum W, Pettenati MJ, Dal Cin P, Carroll AJ, Caligiuri MA, Larson RA, Volinia S, Marcucci G, Bloomfield CD; on behalf of the Alliance for Clinical Trials in Oncology. inv(16)/t(16;16) acute myeloid leukemia with non-type A CBFB-MYH11 fusions associate with distinct clinical and genetic features and lack KIT mutations. Blood. 2013 Jan 10;121(2):385-391.

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