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Low-level BCR-ABL1 transcripts in individuals without overt hematologic malignancy.

Leeman-Neill RJ, Swerdlow SH, Burnes CL, Melan MA, Nikiforova MN, Surti U, Aggarwal N.

Leuk Res. 2019 Jun;81:98-101. doi: 10.1016/j.leukres.2019.04.009. Epub 2019 Apr 22. No abstract available.


Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1-2 (BP1-BP2) in a large cohort of samples referred for genetic diagnosis.

Mohan KN, Cao Y, Pham J, Cheung SW, Hoffner L, Ou ZZ, Surti U, Cook EH, Beaudet AL.

J Hum Genet. 2019 Mar;64(3):253-255. doi: 10.1038/s10038-018-0543-7. Epub 2018 Dec 12.


Diploid/triploid mixoploidy: A consequence of asymmetric zygotic segregation of parental genomes.

Carson JC, Hoffner L, Conlin L, Parks WT, Fisher RA, Spinner N, Yatsenko SA, Bonadio J, Surti U.

Am J Med Genet A. 2018 Dec;176(12):2720-2732. doi: 10.1002/ajmg.a.40646. Epub 2018 Oct 10.


Partial 5p Deletion and Partial 5q Duplication in a Patient with Multiple Congenital Anomalies: A Two-Step Mechanism in Chromosomal Rearrangement Mediated by Non-Allelic Homologous Recombination.

Ou ZZ, Kochmar S, Yatsenko SA, Woerner AC, Acquaro R, Ortiz D, Surti U, Hu J.

Cytogenet Genome Res. 2018 Oct 5. doi: 10.1159/000493381. [Epub ahead of print]


Autism spectrum disorder in females with ARHGEF9 alterations and a random pattern of X chromosome inactivation.

Aarabi M, Kessler E, Madan-Khetarpal S, Surti U, Bellissimo D, Rajkovic A, Yatsenko SA.

Eur J Med Genet. 2019 Apr;62(4):239-242. doi: 10.1016/j.ejmg.2018.07.021. Epub 2018 Jul 23.


Beyond Down syndrome phenotype: Paternally derived isodicentric chromosome 21 with partial monosomy 21q22.3.

Putra M, Surti U, Hu J, Steele D, Clemens M, Saller DN, Yatsenko SA, Rajkovic A.

Am J Med Genet A. 2017 Dec;173(12):3153-3157. doi: 10.1002/ajmg.a.38497. Epub 2017 Oct 19.


Maternal GRB10 microdeletion is a novel cause of cystic placenta: Spectrum of genomic changes in the etiology of enlarged cystic placenta.

Surti U, Yatsenko S, Hu J, Bellissimo D, Parks WT, Hoffner L.

Placenta. 2017 Sep;57:33-41. doi: 10.1016/j.placenta.2017.05.018. Epub 2017 Jun 2.


Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review.

Hu J, Ou Z, Infante E, Kochmar SJ, Madan-Khetarpal S, Hoffner L, Parsazad S, Surti U.

Mol Cytogenet. 2017 Jun 19;10:24. doi: 10.1186/s13039-017-0326-4. eCollection 2017.


Further Exploration of the Complexities of Large B-Cell Lymphomas With MYC Abnormalities and the Importance of a Blastoid Morphology.

Moore EM, Aggarwal N, Surti U, Swerdlow SH.

Am J Surg Pathol. 2017 Sep;41(9):1155-1166. doi: 10.1097/PAS.0000000000000818.


Expression and trafficking of placental microRNAs at the feto-maternal interface.

Chang G, Mouillet JF, Mishima T, Chu T, Sadovsky E, Coyne CB, Parks WT, Surti U, Sadovsky Y.

FASEB J. 2017 Jul;31(7):2760-2770. doi: 10.1096/fj.201601146R. Epub 2017 Mar 13.


Genomic Characterization of a Metastatic Alveolar Rhabdomyosarcoma Case Using FISH Studies and CGH+SNP Microarray Revealing FOXO1-PAX7 Rearrangement with MYCN and MDM2 Amplification and RB1 Region Loss.

Karunamurthy A, Hoffner L, Hu J, Shaw P, Ranganathan S, Yatsenko SA, Surti U.

Cytogenet Genome Res. 2016;150(3-4):253-261. doi: 10.1159/000458167. Epub 2017 Mar 3.


The Genomic Landscape of PAX5, IKZF1, and CDKN2A/B Alterations in B-Cell Precursor Acute Lymphoblastic Leukemia.

Ou Z, Sherer M, Casey J, Bakos HA, Vitullo K, Hu J, Friehling E, Gollin SM, Surti U, Yatsenko SA.

Cytogenet Genome Res. 2016;150(3-4):242-252. doi: 10.1159/000456572. Epub 2017 Feb 18.


Highly heterogeneous genomic landscape of uterine leiomyomas by whole exome sequencing and genome-wide arrays.

Yatsenko SA, Mittal P, Wood-Trageser MA, Jones MW, Surti U, Edwards RP, Sood AK, Rajkovic A.

Fertil Steril. 2017 Feb;107(2):457-466.e9. doi: 10.1016/j.fertnstert.2016.10.035. Epub 2016 Nov 23.


DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.

Joshi RS, Garg P, Zaitlen N, Lappalainen T, Watson CT, Azam N, Ho D, Li X, Antonarakis SE, Brunner HG, Buiting K, Cheung SW, Coffee B, Eggermann T, Francis D, Geraedts JP, Gimelli G, Jacobson SG, Le Caignec C, de Leeuw N, Liehr T, Mackay DJ, Montgomery SB, Pagnamenta AT, Papenhausen P, Robinson DO, Ruivenkamp C, Schwartz C, Steiner B, Stevenson DA, Surti U, Wassink T, Sharp AJ.

Am J Hum Genet. 2016 Sep 1;99(3):555-566. doi: 10.1016/j.ajhg.2016.06.032. Epub 2016 Aug 25.


Genotype-phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review.

Bregand-White J, Saller DN, Clemens M, Surti U, Yatsenko SA, Rajkovic A.

Am J Med Genet A. 2016 Sep;170(9):2365-71. doi: 10.1002/ajmg.a.37793. Epub 2016 Jun 10. Review.


CD49d shows superior performance characteristics for flow cytometric prognostic testing in chronic lymphocytic leukemia/small lymphocytic lymphoma.

Gooden CE, Jones P, Bates R, Shallenberger WM, Surti U, Swerdlow SH, Roth CG.

Cytometry B Clin Cytom. 2018 Jan;94(1):129-135. doi: 10.1002/cyto.b.21384. Epub 2016 Jun 27.


Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Szafranski P, Gambin T, Dharmadhikari AV, Akdemir KC, Jhangiani SN, Schuette J, Godiwala N, Yatsenko SA, Sebastian J, Madan-Khetarpal S, Surti U, Abellar RG, Bateman DA, Wilson AL, Markham MH, Slamon J, Santos-Simarro F, Palomares M, Nevado J, Lapunzina P, Chung BH, Wong WL, Chu YWY, Mok GTK, Kerem E, Reiter J, Ambalavanan N, Anderson SA, Kelly DR, Shieh J, Rosenthal TC, Scheible K, Steiner L, Iqbal MA, McKinnon ML, Hamilton SJ, Schlade-Bartusiak K, English D, Hendson G, Roeder ER, DeNapoli TS, Littlejohn RO, Wolff DJ, Wagner CL, Yeung A, Francis D, Fiorino EK, Edelman M, Fox J, Hayes DA, Janssens S, De Baere E, Menten B, Loccufier A, Vanwalleghem L, Moerman P, Sznajer Y, Lay AS, Kussmann JL, Chawla J, Payton DJ, Phillips GE, Brosens E, Tibboel D, de Klein A, Maystadt I, Fisher R, Sebire N, Male A, Chopra M, Pinner J, Malcolm G, Peters G, Arbuckle S, Lees M, Mead Z, Quarrell O, Sayers R, Owens M, Shaw-Smith C, Lioy J, McKay E, de Leeuw N, Feenstra I, Spruijt L, Elmslie F, Thiruchelvam T, Bacino CA, Langston C, Lupski JR, Sen P, Popek E, Stankiewicz P.

Hum Genet. 2016 May;135(5):569-586. doi: 10.1007/s00439-016-1655-9. Epub 2016 Apr 12.


Correlation of Classic and Molecular Cytogenetic Alterations in Soft-Tissue Sarcomas: Analysis of 46 Tumors With Emphasis on Adipocytic Tumors and Synovial Sarcoma.

Rao UN, Cieply K, Sherer C, Surti U, Gollin SM.

Appl Immunohistochem Mol Morphol. 2017 Mar;25(3):168-177. doi: 10.1097/PAI.0000000000000294.


Genetic and morphological features of human iPSC-derived neurons with chromosome 15q11.2 (BP1-BP2) deletions.

Das DK, Tapias V, D'Aiuto L, Chowdari KV, Francis L, Zhi Y, Ghosh BA, Surti U, Tischfield J, Sheldon M, Moore JC, Fish K, Nimgaonkar V.

Mol Neuropsychiatry. 2015 Jul;1(2):116-123. Epub 2015 Jun 24.


Expression of S100 Protein in CD4-positive T-cell Lymphomas Is Often Associated With T-cell Prolymphocytic Leukemia.

Aggarwal N, Pongpruttipan T, Patel S, Bayerl MG, Alkan S, Nathwani B, Surti U, Kitahara S, Chinthammitr Y, Swerdlow SH.

Am J Surg Pathol. 2015 Dec;39(12):1679-87. doi: 10.1097/PAS.0000000000000496.


Giant Cell Arteritis of the Female Genital Tract With Occult Temporal Arteritis and Marginal Zone Lymphoma Harboring Novel 20q Deletion: A Case Report and Literature Review.

Pradhan D, Amin RM, Jones MW, Surti U, Parwani AV.

Int J Surg Pathol. 2016 Feb;24(1):78-84. doi: 10.1177/1066896915605165. Epub 2015 Sep 9.


Integration of microarray analysis into the clinical diagnosis of hematological malignancies: How much can we improve cytogenetic testing?

Peterson JF, Aggarwal N, Smith CA, Gollin SM, Surti U, Rajkovic A, Swerdlow SH, Yatsenko SA.

Oncotarget. 2015 Aug 7;6(22):18845-62.


CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders.

Hu J, Liao J, Sathanoori M, Kochmar S, Sebastian J, Yatsenko SA, Surti U.

J Neurodev Disord. 2015;7(1):26. doi: 10.1186/s11689-015-9122-9. Epub 2015 Aug 6.


Med12 gain-of-function mutation causes leiomyomas and genomic instability.

Mittal P, Shin YH, Yatsenko SA, Castro CA, Surti U, Rajkovic A.

J Clin Invest. 2015 Aug 3;125(8):3280-4. doi: 10.1172/JCI81534. Epub 2015 Jul 20.


High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy.

Yatsenko SA, Bakos HA, Vitullo K, Kedrov M, Kishore A, Jennings BJ, Surti U, Wood-Trageser MA, Cercone S, Yatsenko AN, Rajkovic A, Iannaccone A.

Clin Genet. 2016 Jan;89(1):82-7. doi: 10.1111/cge.12638. Epub 2015 Jul 28.


A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders.

Hu J, Sathanoori M, Kochmar S, Azage M, Mann S, Madan-Khetarpal S, Goldstein A, Surti U.

Am J Med Genet A. 2015 Aug;167A(8):1921-6. doi: 10.1002/ajmg.a.37110. Epub 2015 Apr 10.


Chronic lymphocytic leukemia/small lymphocytic lymphoma: another neoplasm related to the B-cell follicle?

Tandon B, Swerdlow SH, Hasserjian RP, Surti U, Gibson SE.

Leuk Lymphoma. 2015;56(12):3378-86. doi: 10.3109/10428194.2015.1037759. Epub 2015 May 26.


Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene.

Beck M, Peterson JF, McConnell J, McGuire M, Asato M, Losee JE, Surti U, Madan-Khetarpal S, Rajkovic A, Yatsenko SA.

Am J Med Genet A. 2015 May;167A(5):1047-53. doi: 10.1002/ajmg.a.36839. Epub 2015 Mar 21.


MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability.

Wood-Trageser MA, Gurbuz F, Yatsenko SA, Jeffries EP, Kotan LD, Surti U, Ketterer DM, Matic J, Chipkin J, Jiang H, Trakselis MA, Topaloglu AK, Rajkovic A.

Am J Hum Genet. 2014 Dec 4;95(6):754-62. doi: 10.1016/j.ajhg.2014.11.002.


Recent advances of genomic testing in perinatal medicine.

Peters DG, Yatsenko SA, Surti U, Rajkovic A.

Semin Perinatol. 2015 Feb;39(1):44-54. doi: 10.1053/j.semperi.2014.10.009. Epub 2014 Nov 28. Review.


Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability.

AlAsiri S, Basit S, Wood-Trageser MA, Yatsenko SA, Jeffries EP, Surti U, Ketterer DM, Afzal S, Ramzan K, Faiyaz-Ul Haque M, Jiang H, Trakselis MA, Rajkovic A.

J Clin Invest. 2015 Jan;125(1):258-62. doi: 10.1172/JCI78473. Epub 2014 Dec 1.


Resolving the complexity of the human genome using single-molecule sequencing.

Chaisson MJ, Huddleston J, Dennis MY, Sudmant PH, Malig M, Hormozdiari F, Antonacci F, Surti U, Sandstrom R, Boitano M, Landolin JM, Stamatoyannopoulos JA, Hunkapiller MW, Korlach J, Eichler EE.

Nature. 2015 Jan 29;517(7536):608-11. doi: 10.1038/nature13907. Epub 2014 Nov 10.


Single haplotype assembly of the human genome from a hydatidiform mole.

Steinberg KM, Schneider VA, Graves-Lindsay TA, Fulton RS, Agarwala R, Huddleston J, Shiryev SA, Morgulis A, Surti U, Warren WC, Church DM, Eichler EE, Wilson RK.

Genome Res. 2014 Dec;24(12):2066-76. doi: 10.1101/gr.180893.114. Epub 2014 Nov 4.


Large B-cell lymphoma of the base of the tongue and oral cavity: a practical approach to identifying prognostically important subtypes.

Owosho AA, Bilodeau EA, Surti U, Craig FE.

Oral Surg Oral Med Oral Pathol Oral Radiol. 2014 Sep;118(3):338-47. doi: 10.1016/j.oooo.2014.06.002. Epub 2014 Jun 14.


Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.

Nguyen NM, Zhang L, Reddy R, Déry C, Arseneau J, Cheung A, Surti U, Hoffner L, Seoud M, Zaatari G, Bagga R, Srinivasan R, Coullin P, Ao A, Slim R.

J Med Genet. 2014 Sep;51(9):623-34. doi: 10.1136/jmedgenet-2014-102546. Epub 2014 Aug 5.


Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.

Peterson JF, Ghaloul-Gonzalez L, Madan-Khetarpal S, Hartman J, Surti U, Rajkovic A, Yatsenko SA.

Am J Med Genet A. 2014 Feb;164A(2):364-9. doi: 10.1002/ajmg.a.36238.


Absence of skeletal anomalies in siblings with a maternally inherited 12q13.13-q13.2 microdeletion partially involving the HOXC gene cluster.

Peterson JF, Hartman J, Ghaloul-Gonzalez L, Surti U, Hu J.

Am J Med Genet A. 2014 Mar;164A(3):810-4. doi: 10.1002/ajmg.a.36359. Epub 2014 Jan 17.


Whole-genome single nucleotide polymorphism array analysis is complementary to classical cytogenetic analysis in the evaluation of lymphoid proliferations.

Gibson SE, Luo J, Sathanoori M, Liao J, Surti U, Swerdlow SH.

Am J Clin Pathol. 2014 Feb;141(2):247-55. doi: 10.1309/AJCPRHGHT28DUWLA.


Seizure Disorder in a Patient with a 5.09 Mb 7q11.23-q21.11 Microdeletion Including the MAGI2 Gene.

Peterson JF, Thakur P, Peffer A, Kolthoff M, Kochmar SJ, Surti U.

J Assoc Genet Technol. 2014;40(1):16-21.


Intestinal γδ T-cell lymphomas are most frequently of type II enteropathy-associated T-cell type.

Wilson AL, Swerdlow SH, Przybylski GK, Surti U, Choi JK, Campo E, Trucco MM, Van Oss SB, Felgar RE.

Hum Pathol. 2013 Jun;44(6):1131-45. doi: 10.1016/j.humpath.2012.10.002. Epub 2013 Jan 17.


Co-existence of 9p deletion and Silver-Russell syndromes in a patient with maternally inherited cryptic complex chromosome rearrangement involving chromosomes 4, 9, and 11.

Hu J, Sathanoori M, Kochmar S, Madan-Khetarpal S, McGuire M, Surti U.

Am J Med Genet A. 2013 Jan;161A(1):179-84. doi: 10.1002/ajmg.a.35658. Epub 2012 Dec 7.


Application of chromosomal microarray in the evaluation of abnormal prenatal findings.

Yatsenko SA, Davis S, Hendrix NW, Surti U, Emery S, Canavan T, Speer P, Hill L, Clemens M, Rajkovic A.

Clin Genet. 2013 Jul;84(1):47-54. doi: 10.1111/cge.12027. Epub 2012 Nov 4.


Prenatal detection of del(10)(q11.2) mosaicism in chorionic villus specimens likely caused by a common chromosomal fragile site FRA10G is associated with a normal phenotype.

Liao J, Sathanoori M, Yatsenko SA, Hu J, Kochmar SJ, Hoffner L, Hogge WA, Surti U.

Prenat Diagn. 2012 Dec;32(12):1166-9. doi: 10.1002/pd.3977. Epub 2012 Sep 26.


Discovery of epigenetic biomarkers for the noninvasive diagnosis of fetal disease.

Bunce K, Chu T, Surti U, Hogge WA, Peters DG.

Prenat Diagn. 2012 Jun;32(6):542-9. doi: 10.1002/pd.3853. Epub 2012 Apr 11.


The genetics of gestational trophoblastic disease: a rare complication of pregnancy.

Hoffner L, Surti U.

Cancer Genet. 2012 Mar;205(3):63-77. doi: 10.1016/j.cancergen.2012.01.004. Review.


Altered neutrophil maturation patterns that limit identification of myelodysplastic syndromes.

Monaghan SA, Surti U, Doty K, Craig FE.

Cytometry B Clin Cytom. 2012 Jul;82(4):217-28. doi: 10.1002/cyto.b.21016. Epub 2012 Mar 19.


Whole exome sequencing in a random sample of North American women with leiomyomas identifies MED12 mutations in majority of uterine leiomyomas.

McGuire MM, Yatsenko A, Hoffner L, Jones M, Surti U, Rajkovic A.

PLoS One. 2012;7(3):e33251. doi: 10.1371/journal.pone.0033251. Epub 2012 Mar 12.


Prenatal diagnosis of 2q32 deletion syndrome characterized by multiple segmental deletions and complex chromosomal rearrangement involving chromosomes 2, 5 and 7.

Thorson HL, Surti U, Sathanoori M, Kochmar SJ, Torchia B, Rajkovic A.

Fetal Diagn Ther. 2012;31(3):196-200. doi: 10.1159/000335650. Epub 2012 Mar 13.


Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.

Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, Shealy A, Madan-Khetarpal S, McConnell J, Surti U, Delahaye A, Heron-Longe B, Pipiras E, Benzacken B, Passemard S, Verloes A, Isidor B, Le Caignec C, Glew GM, Opheim KE, Descartes M, Eichler EE, Morton CC, Gusella JF, Schultz RA, Ballif BC, Shaffer LG.

Hum Mutat. 2012 Apr;33(4):728-40. doi: 10.1002/humu.22037.

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