Genetics

Adegbola AA, Gonzales MI, Chess A, LaSalle JM, Cox GF. 2009. A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype. Human Genetics 124(6):615-23.

Dong HY, Weisberger J, Liu Z, Tugulea S. 2009. Immunophenotypic analysis of CD103+ B-lymphoproliferative disorders: hairy cell leukemia and its mimics. Am J Clin Pathol 131(4):586-95.

Hurlbut GD, Kankel MW, Artavanis-Tsakonas S. 2009. Nodal points and complexity of Notch-Ras signal integration. Proc Natl Acad Sci U S A 106(7):2218-2223.

Afify A, McNiel MA, Braggin J, Bailey H, Paulino AF. 2008. Expression of CD44s, CD44v6, and Hyaluronan across the spectrum of normal-hyperplasia-carcinoma in breast. Appl Immunohistochem Mol Morphol.

Akmaev VR. 2008. Correction of technology-related artifacts in serial analysis of gene expression. Methods Mol Biol 387:133-42.

Annable K, Donnenfeld AE, Fischer RL, Knops J. 2008. Prenatal diagnosis of a jumping translocation. Prenat Diagn 28(8):767-9.

Azzopardi D, Dallosso AR, Eliason K, Hendrickson BC, Jones N, Rawstorne E, Colley J, Moskvina V, Frye C, Sampson JR, Wenstrup R, Scholl T, Cheadle JP. 2008. Multiple rare nonsynonymous variants in the Adenomatous polyposis coli gene predispose to colorectal adenomas. Cancer Research 68(2):358-63.

Bornstein E, Lenchner E, Donnenfeld A, Barnhard Y, Seubert D, Divon MY. 2008. Advanced maternal age as a sole indication for genetic amniocentesis; risk-benefit analysis based on a large database reflecting the current common practice. J Perinat Med 2008 Nov 10. [Epub ahead of print].

Chaudhuri JP, Karamanov S, Paulraj P, Mcgill JR, Walther J-U. 2008. Identification of parental chromosomes involved in translocations BCR-ABL, t(9;22) and PML-RARA, t(15;17). Anticancer Res 28(6 A):3573-8.

Chen S-W, Li C-F, Chuang S-S, Tzeng C-C, Hsieh Y-C, Lee P-S, Chen C-H, Huang W-T, Hwang W-S, Tsao C-J. 2008. Aberrant co-expression of CD19 and CD56 as surrogate markers of acute myeloid leukemias with t(8;21) in Taiwan. Intl J Lab Hematol 30(2):133-8.

Cronister A, Teicher J, Rohlfs EM, Donnenfeld A, Hallam S. 2008. Prevalence and instability of fragile x alleles: implications for offering fragile x prenatal diagnosis. Obstet Gynecol 111:596-601.

Dong HY, Browne P, Liu Z, Gangi M. 2008. PAX-5 is invariably expressed in B-cell lymphomas without plasma cell differentiation. Histopathology 53(3):278-87.

Ende L, Upton J, Richkind KE, Vargas SO. 2008. Lipoblastoma: Appreciation of an expanded spectrum of disease through cytogenetic analysis. Arch of Pathol Lab Med 132(9):1442-4.

Fairley C, Zimran A, Phillips M, Cizmarik M, Yee J, Weinreb N, Packman S. 2008. Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: An analysis of 798 patients from the ICGG Gaucher Registry. J of Inher Metab Dis 31(6):738-44.

Kroos MA, Mullaart RA, Van Vliet L, Pomponio RJ, Amartino H, Kolodny EH, Pastores GM, Wevers RA, Van der Ploeg AT, Halley DJJ, Reuser AJJ. 2008. p.[G576S; E689K]: Pathogenic combination or polymorphism in Pompe disease? Eu J Human Genetics 16(8):875-9.

Palomaki GE, Neveux LM, Donnenfeld A, Lee JES, McDowell G, Canick JA, Summers A, Lambert-Messerlian G, Kellner LH, Zebelman A, Haddow JE. 2008. Quality assessment of routine nuchal translucency measurements: A North American laboratory perspective. Genetics in Med 10(2):131-8.

Pressey JG, Mroczek-Musulman E, Murata-Collins JL, Saito JM, Hammers Y. 2008. Embryonal rhabdomyosarcoma with a novel t(2;6)(p23;p21.1). Canc Genet & Cytogen 187(1):39-42.

Reddy KS. 2008. Assessment of 1p/19q deletions by fluorescence in situ hybridization in gliomas. Cancer Genet Cytogenet 184(2):77-86.

Reddy KS. 2008. Importance of cytogenetic surveillance in leukemias with a designer therapy. Leuk Lymphoma 49(8):1633-7.

Reddy KS. 2008. Two cases assessed for myeloid disorders had an unexpected twist. Cancer Genet Cytogenet 181:138-140.

Reddy KS, Ansari-Lari M, Dipasquale B. 2008. Blastic mantle cell lymphoma with a Burkitt translocation. Leuk Lymphoma 49(4):740-50.

Reddy KS, Tripodi J. 2008. Contemplations on preclinical validation of fluorescence in situ hybridization probe assay for paraffin-embedded tissues in hematologic disorders. Cancer Genetics & Cytogenetics 183(1):1-5.

Russell Z, Kontopoulos EV, Quintero RA, Debauche DM, Ranells JD. 2008. Prenatal diagnosis of a 4q33-4qter deletion in a fetus with hydrops. Fetal Diagn Ther 24(3):250-3.

Shafer D, Wu H, Al-Saleem T, Reddy K, Borghaei H, Lessin S, Smith M. 2008. Cutaneous precursor B-cell lymphoblastic lymphoma in 2 adult patients: Clinicopathologic and molecular cytogenetic studies with a review of the literature. Archives of Dermat 144(9):1155-62.

Shtilbans V, Wu M, Burstein DE. 2008. Current overview of the role of Akt in cancer studies via applied immunohistochemistry. Ann Diagn Pathol 12:153-160.

Wilson JA, Pratt VM, Phansalkar A, Muralidharan K, Highsmith Jr. WE, Beck JC, Bridgeman S, Courtney EM, Epp L, Ferreira-Gonzalez A, Hjelm NL, Holtegaard LM, Jama MA, Jakupciak JP, Johnson MA, Labrousse P, Lyon E, Prior TW, Richards CS, Richie KL, Roa BB, Rohlfs EM, Sellers TS, Sherman SL, Siegrist KA, Silverman LM, Wiszniewska J, Kalman LV, Bossler A, Dillon D, Dolan M, Gastier-Foster J, Jones D, Sepulveda A, Stellrecht K, Wolff DA. 2008. Consensus characterization of 16 FMR1 reference materials: A consortium study. J Molecular Diagnostics 10(1):2-12.

Zanetto U, Dong H, Huang Y, Zhang K, Narbaitz M, Sapia S, Kostopoulos I, Liu H, Du M-Q, Bacon CMc. 2008. Mantle cell lymphoma with aberrant expression of CD10. Histopathology 53(1):20-9.

Asher J. 2007. Infertility Counseling: A Comprehensive Handbook for Clinicians (2nd ed). J Genet Couns 16:663-664.

Aspinall MG, Hamermesh RG. 2007. Realizing the promise of personalized medicine. Harv Bus Rev 85:108-117.

Bornstein E, Barnhard Y, Donnenfeld AE, Ferber A, Divon MY. 2007. The risk of a major trisomy in fetuses with pyelectasis: the impact of an abnormal maternal serum screen or additional sonographic markers. Am J Obstet Gynecol 196:e24-26.

Kalman L, Johnson MA, Beck J, Berry-Kravis E, Buller A, Casey B, Feldman GL, Handsfield J, Jakupciak JP, Maragh S, Matteson K, Muralidharan K, Richie KL, Rohlfs EM, Schaefer F, Sellers T, Spector E, Richards CS. 2007. Development of genomic reference materials for Huntington disease genetic testing. Genetics in Med 9(10):719-23.

Kenney B, Richkind KE, Friedlaender G, Zambrano E. 2007. Chromosomal rearrangements in lipofibromatosis. Cancer Genetics & Cytogenetics 179(2):136-9.

Kenney B, Richkind KE, Zambrano E. 2007. Solid variant of aneurysmal bone cyst with a novel (X;9) translocation. Cancer Genetics & Cytogenetics 178(2):155-9.

Kroos MA, Pomponio RJ, Hagemans ML, Keulemans JL, Phipps M, DeRiso M, Palmer RE, Ausems MG, Van der Beek NA, Van Diggelen OP, Halley DJ, Van der Ploeg AT, Reuser AJ. 2007. Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype. Neurology 68:110-115.

Lindh HL, Steele R, Page-Steiner J, Donnenfeld AE. 2007. Characteristics and perspectives of families waiting to adopt a child with Down syndrome. Genet Med 9:235-240.

Majewski S, Donnenfeld AE, Kuhlman K, Patel A. 2007. Second-trimester prenatal diagnosis of total arhinia. J Ultrasound Med 26:391-395.

Oldaker TA. 2007. Quality control in clinical flow cytometry. Clin Lab Med 27:671-685.

Palomaki GE, Neveux LM, Knight GJ, Haddow JE, Lee J. 2007. Estimating first-trimester combined screening performance for Down syndrome in dried blood spots versus fresh sera. Genetics in Med 9(7):458-63.

Qin N, Bartley J, Wang JC, Warburton PE. 2007. A neocentromere derived from a supernumerary marker deleted from the long arm of chromosome 6. Cytogenet Genome Res 119:154-157.

Reddy KS. 2007. Double minutes (dmin) and homogeneously staining regions (hsr) in myeloid disorders: a new case suggesting that dmin form hsr in vivo. Cytogenet Genome Res 119:53-59.

Rodriguez-Revenga L, Mila M, Rosenberg C, Lamb A, Lee C. 2007. Structural variation in the human genome: The impact of copy number variants on clinical diagnosis. Genetics in Med 9(9):600-6.

Shaffer LG, Beaudet AL, Brothman AR, Hirsch B, Levy B, Martin CL, Mascarello JT, Rao KW. 2007. Microarray analysis for constitutional cytogenetic abnormalities. Genetics in Med 9(9):654-62.

Wang LL, Perlman EJ, Vujanic GM, Zuppan C, Brundler M-A, Cheung CRLH, Calicchio ML, Dubois S, Cendron M, Murata-Collins JL, Wenger GD, Strzelecki D, Barr FG, Collins T, Perez-Atayde AR, Kozakewich H. 2007. Desmoplastic small round cell tumor of the kidney in childhood. Amer J Surg Path 31(4):576-84.

Weitzel JN, Lagos VI, Herzog JS, Judkins T, Hendrickson B, Ho JS, Ricker CN, Lowstuter KJ, Blazer KR, Tomlinson G, Scholl T. 2007. Evidence for common ancestral origin of a recurring BRCA1 genomic rearrangement identified in high-risk hispanic families. Cancer Epidemiol Biomarkers & Prevention 16(8):1615-20.

Wood BL, Arroz M, Barnett D, DiGiuseppe J, Greig B, Kussick SJ, Oldaker T, Shenkin M, Stone E, Wallace P. 2007. 2006 Bethesda International Consensus recommendations on the immunophenotypic analysis of hematolymphoid neoplasia by flow cytometry: Optimal reagents and reporting for the flow cytometric diagnosis of hematopoietic neoplasia. Cytometry Pt B - Clin Cyto 72(SUPPL 1):S14-22.

Zuhlke C, Roeder E, Purmann S, Wieczorek D, Curry C, Loustalet C, Hellenbroich Y, Richardt HH, Gillessen-Kaesbach G. 2007. Homozygous myotonic dystrophy: Clinical findings in two patients and review of the literature. Amer J Med Genetics, Part A 143(17):2058-61.

Amartino H, Painceira D, Pomponio RJ, Niizawa G, Sabio Paz V, Blanco M, Chamoles NA. 2006. Two clinical forms of glycogen-storage disease type II in two generations of the same family. Clin Genet 69:187-188.

Bornstein E, Barnhard Y, Donnenfeld A, Ferber A, Divon MY. 2006. Fetal pyelectasis: Does fetal gender modify the risk of major trisomies? Obstet Gynecol 107:877-879.

Donnenfeld AE, Cutillo D, Horwitz J, Knops J. 2006. Prospective study of 22q11 deletion analysis in fetuses with excess nuchal translucency. Am J Obstet Gynecol 194:508-511.

Huang B, Solomon S, Thangavelu M, Peters K, Bhatt S. 2006. Supernumerary marker chromosomes detected in 100,000 prenatal diagnoses: molecular cytogenetic studies and clinical significance. Prenat Diagn 26:1142-1150.

Kurosu H, Ogawa Y, Miyoshi M, Yamamoto M, Nandi A, Rosenblatt KP, Baum MG, Schiavi S, Hu MC, Moe OW, Kuro OM. 2006. Regulation of fibroblast growth factor-23 signaling by klotho. J Biol Chem 281:6120-6123.

McClarren J, Donnenfeld AE, Ravnan JB. 2006. Prenatal diagnosis of an unexpected interstitial 22q11.2 deletion causing truncus arteriosus and thymic hypoplasia in a ring 22 chromosome derived from a maternally inherited paracentric inversion. Prenat Diagn. 2006 Dec;26(13):1212-5.

Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, Ledbetter DH, Martin CL. 2006. Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 43:478-489.

Rodig SJ, Abramson JS, Pinkus GS, Treon SP, Dorfman DM, Dong HY, Shipp MA, Kutok JL. 2006. Heterogeneous CD52 expression among hematologic neoplasms: Implications for the use of alemtuzumab (CAMPATH-1H). Clin Canc Res 12:7174-7179.

Zhang W, Garces J, Dong HY. 2006. Detection of the t(11;18) API2/MALT1 translocation associated with gastric MALT lymphoma in routine formalin-fixed, paraffin-embedded small endoscopic biopsy specimens by robust real-time RT-PCR. Am J Clin Pathol 126:931-940.

Alkuraya FS, Kimonis VE, Holt L, Murata-Collins JL. 2005. A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: Further support for "ring chromosome 2 syndrome". Am J Med Genet A 132:447-449.

Benn P, Donnenfeld AE. 2005. Sequential Down syndrome screening: The importance of first and second trimester test correlations when calculating risk. J. Genet. Counseling 14:409-413.

Brock JE, Perez-Atayde AR, Kozakewich HP, Richkind KE, Fletcher JA, Vargas SO. 2005. Cytogenetic aberrations in perineurioma: variation with subtype. Am J Surg Pathol 29:1164-1169.

Chan EM, Comer EM, Brown FC, Richkind KE, Holmes ML, Chong BH, Shiffman R, Zhang DE, Slovak ML, Willman CL, Noguchi CT, Li Y, Heiber DJ, Kwan L, Chan RJ, Vance GH, Ramsey HC, Hromas RA. 2005. AML1-FOG2 fusion protein in myelodysplasia. Blood.

Chaudhuri JP, Kasprzycki E, Battaglia M, McGill JR, Brogger A, Walther J-U, Reith A. 2005. Biphasic chromatin structure and FISH signals in reflect intranuclear order. Cellular Oncol 27:327-334.

Chen E, Choe MA, Loughman WD, Covert S, Bitts S, Rowe A, Beischel L, Johnson JP. 2005. Recurrent adjacent-2 segregation of a familial t(14;21)(q11.2;q11.2): phenotypic comparison of two brothers and a paternal aunt inheriting the der(14). Am J Med Genet A 132:164-170.

Cronister A, Dimaio M, Mahoney MJ, Donnenfeld AE, Hallam S. 2005. Fragile X syndrome carrier screening in the prenatal genetic counseling setting. Genet Med 7:246-250.

Dong HY, Liu W, Cohen P, Mahle CE, Zhang W. 2005. B-cell specific activation protein encoded by the PAX-5 gene is commonly expressed in merkel cell carcinoma and small cell carcinomas. Am J Surg Pathol 29:687-692.

Dong HY, Scadden DT, de Leval L, Tang Z, Isaacson PG, Harris NL. 2005. Plasmablastic lymphoma in HIV-positive patients: An aggressive Epstein-Barr virus-associated extramedullary plasmacytic neoplasm. Am J Surg Pathol 29:1633-1641.

Gardner TM, Donnenfeld AE. 2005. Prenatal screening for Down syndrome should focus on safety more than cost-effectiveness. Am J Obstet Gynecol 192:335-336; author reply 336.

Pederson B, Cope C, Schroeder J, Smith M, Irimia J, Thurberg B, Depaoli-Roach A, PJ R. 2005. Exercise capacity of mice genetically lacking muscle glycogen synthase: In mice, muscle glycogen is not essential for exercise. J Biol Chem (in Press).

Pederson BA, Cope CR, Irimia JM, Schroeder JM, Thurberg BL, Depaoli-Roach AA, Roach PJ. 2005. Mice with elevated muscle glycogen stores do not have improved exercise performance. Biochem Biophys Res Commun 331:491-496.

Pomponio RJ, Cabrera-Salazar MA, Echeverri OY, Miller G, Barrera LA. 2005. Gaucher disease in Colombia: mutation identification and comparison to other Hispanic populations. Mol Genet Metab 86:466-472.

Reddy KS. 2005. Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder. BMC Med Genet 6:3.

Reddy KS, Richkind K, Ross M, Seirra R. 2005. Translocation (X;20)(q13;q13.3): a nonrandom abnormality in four patients with myeloid disorders. Cancer Genet Cytogenet 157:70-73.

Sandoval C, Pine SR, Guo Q, Sastry S, Stewart J, Kronn D, Jayabose S. 2005. Tetrasomy 21 transient leukemia with a GATA1 mutation in a phenotypically normal trisomy 21 mosaic infant: case report and review of the literature. Pediatr Blood Cancer 44:85-91.

Saucier JB, Johnston D, Wicklund CA, Robbins-Furman P, Hecht JT, Monga M. 2005. Racial-ethnic differences in genetic amniocentesis uptake. J Genet Couns 14:189-195.

Shah R, Rowland B, Richkind K, Mowery-Rushton P, Roherty S, Morgan R, Schlam M. 2005. Translocation (3;12)(q25;p11.2): a recurrent cytogenetic abnormality in acute myeloid leukemia. Canc Genet & Cytogen 156:186-187.

Waller K, Chaithongwongwatthana S, Yamasmit W, Donnenfeld AE. 2005. Chromosomal abnormalities among 246 fetuses with pleural effusions detected on prenatal ultrasound examination: factors associated with an increased risk of aneuploidy. Genet Med 7:417-421.

Wang J-CC. 2005. Genomic imprinting and uniparental disomy. In: Gersen SL, Keagle MB, editors. Principles of Clinical Cytogenetics (2nd Ed): Humana Press. p 515-540.

Wang J-CC. 2005. Autosomal aneuploidy. In: Gersen SL, Keagle MB, editors. Principles of Clinical Cytogenetics (2nd Ed): Humana Press. p 133-164.

Zhou Q, Kyazike J, Echelard Y, Meade HM, Higgins E, Cole ES, Edmunds T. 2005. Effect of genetic background on glycosylation heterogeneity in human antithrombin produced in the mammary gland of transgenic goats. J Biotechnol 117:57-72.

Akmaev VR, Wang CJ. 2004. Correction of sequence-based artifacts in serial analysis of gene expression. Bioinformatics 20:1254-1263.

Dong HY. 2004. Antigenic variation of hairy cell leukemia defines a CD25 negative variant with a uniform immunophenotype and distinct clinicopathologic features. Blood 104:313A.

Dong HY. 2004. Subset of T-cell prolymphocytic leukemia expresses CD117. Blood. 104:218B.

Dong HY, Cohen P, Lee P-S. 2004. Biphenotypic gamma-delta T-cell leukemia/lymphoma with coexpression of Pax-5 and other B-cell specific antigens. Blood 104:221B.

Moore JW, Binder GA, Berry R. 2004. Prenatal diagnosis of aneuploidy and deletion 22q11.2 in fetuses with ultrasound detection of cardiac defects. Am J Obstet Gynecol 191:2068-2073.

Rohlfs EM, Weinblatt VJ, Treat KJ, Sugarman EA. 2004. Analysis of 3208 cystic fibrosis prenatal diagnoses: impact of carrier screening guidelines on distribution of indications for CFTR mutation and IVS-8 poly(T) analyses. Genet Med 6:400-404.

Huang B, Martin CL, Sandlin CJ, Wang S, Ledbetter DH. 2004. Mitotic and meiotic instability of a telomere association involving the Y chromosome. Am J Med Genet A 129:120-123.

Huang B, Prensky L, Thangavelu M, Main D, Wang S. 2004. Three consecutive triploidy pregnancies in a woman: genetic predisposition? Eur J Hum Genet 12:985-986.

Johnson K, Dukes K, Vidaver J, LeShane E, Ramirez I, Weber W, Bischoff F, Hahn S, Sharma A, Dang D, Hire L, Bianchi D, Simpson J, Holzgreve W, Elias S, Klinger K. 2004. Interlaboratory comparison of fetal male DNA detection from common maternal plasma samples by real-time PCR. Clin Chem 50:516-521.

Kaye EM, Moser H. 2004. Where has all the white matter gone? Unraveling the mysteries of leukoencephalopathies. Neurology 62:1464-1465.

Moore JW, Binder GA, Berry R. 2004. Prenatal diagnosis of aneuploidy and deletion 22q11.2 in fetuses with ultrasound detection of cardiac defects. Am J Obstet Gynecol 191:2068-2073.

Roberts AE, Cox GF, Kimonis V, Lamb A, Irons M. 2004. Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. Am J Med Genet A 128:352-363.

Sarafidou T, Kahl C, Martinez-Garay I, Mangelsdorf M, Gesk S, Baker E, Kokkinaki M, Talley P, Maltby EL, French L, Harder L, Hinzmann B, Nobile C, Richkind K, Finnis M, Deloukas P, Sutherland GR, Kutsche K, Moschonas NK, Siebert R, Gecz J. 2004. Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein. Genomics 84:69-81.

Thangavelu M, Frolich G, Rogers D. 2004. Partial duplication 2p as the sole abnormality in two cases with anencephaly. Am J Med Genet A 124:170-172.

Montgomery KD, Winter SS, Frost JD, Hardekopf D, Holt K, Graham ML, Foucar K. 2004. Myeloid antigen positive acute lymphoblastic leukemia with the Philadelphia translocation and a jumping translocation of 1q in a child. Leukemia 18:1548-1550.

Venditti CP, Hunt P, Donnenfeld A, Zackai E, Spinner NB. 2004. Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies. Am J Med Genet A 124:274-279.

Warburton D, Dallaire L, Thangavelu M, Ross L, Levin B, Kline J. 2004. Trisomy recurrence: a reconsideration based on North American data. Am J Hum Genet 75:376-385.

Zaslav AL, Pierno G, Davis J, Fougner A, Jacob J, Kazi R, Blumenthal D, Sturim S, Shaham M, Fox J. 2004. Prenatal diagnosis of trisomy 3 mosaicism. Prenat Diagn 24:693-696.

Bischoff F, Hahn S, Johnson K, Simpson J, Bianchi D, Lewis D, Weber W, Klinger K, Elias S, Jackson L, Evans M, Holzgreve W, de la Cruz F. 2003. Intact fetal cells in maternal plasma: are they really there? Lancet 361:139-140.

Cox GF, Hansen RM, Quinn N, Fulton AB. 2003. Retinal function in carriers of Bardet-Biedl syndrome. Arch Ophthalmol 121:804-810.

Donnenfeld AE, Lamb AN. 2003. Cytogenetics and molecular cytogenetics in prenatal diagnosis. Clin Lab Med 23:457-480.

Homer J, Bhatt S, Huang B, Thangavelu M. 2003. Residual risk for cytogenetic abnormalities after prenatal diagnosis by interphase fluorescence in situ hybridization (FISH). Prenat Diag 23:566-571.

Huang B, Bartley J. 2003. Partial hexasomy of chromosome 15. Am J Med Genet A 121:277-280.

Mascarello JT, Cooley LD, Davison K, Dewald GW, Brothman AR, Herrman M, Park JP, Persons DL, Rao KW, Schneider NR, Vance GH. 2003. Problems with ISCN FISH Nomenclature make it not practical for use in clinical test reports or cytogenetic databases [corrected]. Genet Med 5:370-377.

Ramsey H, Zhang DE, Richkind K, Burcoglu-O'Ral A, Hromas R. 2003. Fusion of AML1/Runx1 to copine VIII, a novel member of the copine family, in an aggressive acute myelogenous leukemia with t(12;21) translocation. Leukemia 17:1665-1666.

Picker JD, Puga AC, Levy HL, Marsden D, Shih VE, Degirolami U, Ligon KL, Cederbaum SD, Kern RM, Cox GF. 2003. Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. J Pediatr 142:349-352.

Reddy KS, Huang B. 2003. Prenatal management of mosaic tetrasomy 5p. Prenat Diagn 23:82-85.

Reddy KS, Thangavelu M. 2003. Trisomy 5p in a prenatal case with ultrasound abnormalities. Prenat Diagn 23:81-82.

Bianchi DW, Simpson JL, Jackson LG, Elias S, Holzgreve W, Evans MI, Dukes KA, Sullivan LM, Klinger KW, Bischoff FZ, Hahn S, Johnson KL, Lewis D, Wapner RJ, de la Cruz F. 2002. Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study. Prenat Diagn 22:609-615.

Carpten J, Nupponen N, Isaacs S, Sood R, Robbins C, Xu J, Faruque M, Moses T, Ewing C, Gillanders E, Hu P, Bujnovszky P, Makalowska I, Baffoe-Bonnie A, Faith D, Smith J, Stephan D, Wiley K, Brownstein M, Gildea D, Kelly B, Jenkins R, Hostetter G, Matikainen M, Schleutker J, Klinger K, Connors T, Xiang Y, Wang Z, De Marzo A, Papadopoulos N, Kallioniemi OP, Burk R, Meyers D, Gronberg H, Meltzer P, Silverman R, Bailey-Wilson J, Walsh P, Isaacs W, Trent J. 2002. Germline mutations in the ribonuclease L gene in families showing linkage with HPC1. Nat Genet 30:181-184.

Donnenfeld AE, Icke KV, Pargas C, Dowman C. 2002. Biochemical screening for aneuploidy in ovum donor pregnancies. Am J Obstet Gynecol 187:1222-1225.

Donnenfeld AE, Lockwood D, Custer T, Lamb AN. 2002. Prenatal diagnosis from fetal urine in bladder outlet obstruction: success rates for traditional cytogenetic evaluation and interphase fluorescence in situ hybridization. Genet Med 4:444-447.

Huang B, Thangavelu M, Bhatt S, C JS, Wang S. 2002. Prenatal diagnosis of 45,X and 45,X mosaicism: the need for thorough cytogenetic and clinical evaluations. Prenat Diagn 22:105-110.

Lee MH, Park SY, Kim YM, Kim JM, Han JY, Kim MY, Ryu HM. 2002. Prenatal diagnosis of a familial complex chromosomal rearrangement involving chromosomes 5, 10, 16 and 18. Prenat Diag 22:102-104.

Richkind KE, Mortimer E, Mowery-Rushton P, Fraire A. 2002. Translocation (16;20)(p11.2;q13). sole cytogenetic abnormality in a unicameral bone cyst. Cancer Genet Cytogenet 137:153-155.

Thangavelu M, Huang B, Lemieux M, Tom W, Richkind KE. 2002. A t(4;11)(q21;p15) in a case of T-cell lymphoma and a case of acute myelogenous leukemia. Canc Genet Cytogenet 132:109-115.