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Items: 1 to 50 of 53

1.

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

Genet Med. 2019 Nov 6. doi: 10.1038/s41436-019-0686-8. [Epub ahead of print]

PMID:
31690835
2.
3.

A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.

Ji J, Shen L, Bootwalla M, Quindipan C, Tatarinova T, Maglinte DT, Buckley J, Raca G, Saitta SC, Biegel JA, Gai X.

Cold Spring Harb Mol Case Stud. 2019 Apr 1;5(2). pii: a003756. doi: 10.1101/mcs.a003756. Print 2019 Apr.

4.

Assessing copy number aberrations and copy neutral loss of heterozygosity across the genome as best practice: An evidence based review of clinical utility from the cancer genomics consortium (CGC) working group for myelodysplastic syndrome, myelodysplastic/myeloproliferative and myeloproliferative neoplasms.

Kanagal-Shamanna R, Hodge JC, Tucker T, Shetty S, Yenamandra A, Dixon-McIver A, Bryke C, Huxley E, Lennon PA, Raca G, Xu X, Jeffries S, Quintero-Rivera F, Greipp PT, Slovak ML, Iqbal MA, Fang M.

Cancer Genet. 2018 Dec;228-229:197-217. doi: 10.1016/j.cancergen.2018.07.003. Epub 2018 Oct 10. Review.

PMID:
30377088
5.

Assessing copy number abnormalities and copy-neutral loss-of-heterozygosity across the genome as best practice in diagnostic evaluation of acute myeloid leukemia: An evidence-based review from the cancer genomics consortium (CGC) myeloid neoplasms working group.

Xu X, Bryke C, Sukhanova M, Huxley E, Dash DP, Dixon-Mciver A, Fang M, Griepp PT, Hodge JC, Iqbal A, Jeffries S, Kanagal-Shamanna R, Quintero-Rivera F, Shetty S, Slovak ML, Yenamandra A, Lennon PA, Raca G.

Cancer Genet. 2018 Dec;228-229:218-235. doi: 10.1016/j.cancergen.2018.07.005. Epub 2018 Oct 6. Review.

PMID:
30344013
6.

Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards.

Danos AM, Ritter DI, Wagner AH, Krysiak K, Sonkin D, Micheel C, McCoy M, Rao S, Raca G, Boca SM, Roy A, Barnell EK, McMichael JF, Kiwala S, Coffman AC, Kujan L, Kulkarni S, Griffith M, Madhavan S, Griffith OL; Clinical Genome Resource Somatic Working Group and Clinical Interpretation of Variants in Cancer team members.

Hum Mutat. 2018 Nov;39(11):1721-1732. doi: 10.1002/humu.23651.

7.

OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies.

Hiemenz MC, Ostrow DG, Busse TM, Buckley J, Maglinte DT, Bootwalla M, Done J, Ji J, Raca G, Ryutov A, Xu X, Zhen CJ, Conroy JM, Hazard FK, Deignan JL, Rogers BB, Treece AL, Parham DM, Gai X, Judkins AR, Triche TJ, Biegel JA.

J Mol Diagn. 2018 Nov;20(6):765-776. doi: 10.1016/j.jmoldx.2018.06.009. Epub 2018 Aug 20.

PMID:
30138724
8.

Myeloid lineage switch following chimeric antigen receptor T-cell therapy in a patient with TCF3-ZNF384 fusion-positive B-lymphoblastic leukemia.

Oberley MJ, Gaynon PS, Bhojwani D, Pulsipher MA, Gardner RA, Hiemenz MC, Ji J, Han J, O'Gorman MRG, Wayne AS, Raca G.

Pediatr Blood Cancer. 2018 Sep;65(9):e27265. doi: 10.1002/pbc.27265. Epub 2018 May 24.

PMID:
29797659
9.

Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies.

Drazer MW, Kadri S, Sukhanova M, Patil SA, West AH, Feurstein S, Calderon DA, Jones MF, Weipert CM, Daugherty CK, Ceballos-López AA, Raca G, Lingen MW, Li Z, Segal JP, Churpek JE, Godley LA.

Blood Adv. 2018 Jan 23;2(2):146-150. doi: 10.1182/bloodadvances.2017013037.

10.

A neoplasm with FIP1L1-PDGFRA fusion presenting as pediatric T-cell lymphoblastic leukemia/lymphoma without eosinophilia.

Oberley MJ, Denton C, Ji J, Hiemenz M, Bhojwani D, Ostrow D, Wu S, Gaynon P, Raca G.

Cancer Genet. 2017 Oct;216-217:91-99. doi: 10.1016/j.cancergen.2017.07.007. Epub 2017 Aug 3.

PMID:
29025601
11.

Diagnostic evaluation of RNA sequencing for the detection of genetic abnormalities associated with Ph-like acute lymphoblastic leukemia (ALL).

Yap KL, Furtado LV, Kiyotani K, Curran E, Stock W, McNeer JL, Kadri S, Segal JP, Nakamura Y, Le Beau MM, Gurbuxani S, Raca G.

Leuk Lymphoma. 2017 Apr;58(4):950-958. doi: 10.1080/10428194.2016.1219902. Epub 2016 Nov 17.

12.

Congenital B-lymphoblastic leukemia with a cryptic MLL rearrangement and post-treatment evolution to mixed phenotype acute leukemia.

Moschiano E, Raca G, Fu C, Pattengale PK, Oberley MJ.

Leuk Res Rep. 2016 Aug 2;6:29-32. doi: 10.1016/j.lrr.2016.07.002. eCollection 2016.

13.

Segmental Chromosomal Aberrations in Localized Neuroblastoma Can be Detected in Formalin-Fixed Paraffin-Embedded Tissue Samples and Are Associated With Recurrence.

Pinto N, Mayfield JR, Raca G, Applebaum MA, Chlenski A, Sukhanova M, Bagatell R, Irwin MS, Little A, Rawwas J, Gosiengfiao Y, Delattre O, Janoueix-Lerosey I, Lapouble E, Schleiermacher G, Cohn SL.

Pediatr Blood Cancer. 2016 Jun;63(6):1019-23. doi: 10.1002/pbc.25934. Epub 2016 Feb 10.

14.

MYC Amplification in Angiosarcoma Arising from an Arteriovenous Graft Site.

Paral KM, Raca G, Krausz T.

Case Rep Pathol. 2015;2015:537297. doi: 10.1155/2015/537297. Epub 2015 Nov 24.

15.

RCSD1-ABL1 Translocation Associated with IKZF1 Gene Deletion in B-Cell Acute Lymphoblastic Leukemia.

Kamran S, Raca G, Nazir K.

Case Rep Hematol. 2015;2015:353247. doi: 10.1155/2015/353247. Epub 2015 Oct 27.

16.

Cerdulatinib, a novel dual SYK/JAK kinase inhibitor, has broad anti-tumor activity in both ABC and GCB types of diffuse large B cell lymphoma.

Ma J, Xing W, Coffey G, Dresser K, Lu K, Guo A, Raca G, Pandey A, Conley P, Yu H, Wang YL.

Oncotarget. 2015 Dec 22;6(41):43881-96. doi: 10.18632/oncotarget.6316.

17.

T-LAK cell-originated protein kinase presents a novel therapeutic target in FLT3-ITD mutated acute myeloid leukemia.

Alachkar H, Mutonga M, Malnassy G, Park JH, Fulton N, Woods A, Meng L, Kline J, Raca G, Odenike O, Takamatsu N, Miyamoto T, Matsuo Y, Stock W, Nakamura Y.

Oncotarget. 2015 Oct 20;6(32):33410-25. doi: 10.18632/oncotarget.5418.

18.

Prognosis in Chronic Lymphocytic Leukemia-Reply.

Nabhan C, Raca G, Wang YL.

JAMA Oncol. 2015 Oct;1(7):988-9. doi: 10.1001/jamaoncol.2015.2532. No abstract available.

PMID:
26448290
19.

Predicting Prognosis in Chronic Lymphocytic Leukemia in the Contemporary Era.

Nabhan C, Raca G, Wang YL.

JAMA Oncol. 2015 Oct;1(7):965-74. doi: 10.1001/jamaoncol.2015.0779. Review.

PMID:
26181643
20.

Next-generation sequencing reveals clinically actionable molecular markers in myeloid sarcoma.

Li Z, Stölzel F, Onel K, Sukhanova M, Mirza MK, Yap KL, Borinets O, Larson RA, Stock W, Sasaki MM, Joseph L, Raca G.

Leukemia. 2015 Oct;29(10):2113-6. doi: 10.1038/leu.2015.81. Epub 2015 Mar 19. No abstract available.

21.

RCSD1-ABL2 fusion resulting from a complex chromosomal rearrangement in high-risk B-cell acute lymphoblastic leukemia.

Raca G, Gurbuxani S, Zhang Z, Li Z, Sukhanova M, McNeer J, Stock W.

Leuk Lymphoma. 2015 Apr;56(4):1145-7. doi: 10.3109/10428194.2014.951851. Epub 2014 Aug 26. No abstract available.

PMID:
25098428
22.

Genomic aberrations in myeloid sarcoma without blood or bone marrow involvement: characterization of formalin-fixed paraffin-embedded samples by chromosomal microarrays.

Mirza MK, Sukhanova M, Stölzel F, Onel K, Larson RA, Stock W, Ehninger G, Kuithan F, Zöphel K, Reddy P, Joseph L, Raca G.

Leuk Res. 2014 Sep;38(9):1091-6. doi: 10.1016/j.leukres.2014.05.004. Epub 2014 May 21.

23.

PLZF staining identifies peripheral T-cell lymphomas derived from innate-like T-cells with TRAV1-2-TRAJ33 TCR-α rearrangement.

McGregor S, Shah A, Raca G, Mirza MK, Smith SM, Anastasi J, Vardiman JW, Hyjek E, Gurbuxani S.

Blood. 2014 Apr 24;123(17):2742-3. doi: 10.1182/blood-2014-02-555482. No abstract available.

PMID:
24764561
24.

Complex or monosomal karyotype and not blast percentage is associated with poor survival in acute myeloid leukemia and myelodysplastic syndrome patients with inv(3)(q21q26.2)/t(3;3)(q21;q26.2): a Bone Marrow Pathology Group study.

Rogers HJ, Vardiman JW, Anastasi J, Raca G, Savage NM, Cherry AM, Arber D, Moore E, Morrissette JJ, Bagg A, Liu YC, Mathew S, Orazi A, Lin P, Wang SA, Bueso-Ramos CE, Foucar K, Hasserjian RP, Tiu RV, Karafa M, Hsi ED.

Haematologica. 2014 May;99(5):821-9. doi: 10.3324/haematol.2013.096420. Epub 2014 Jan 24.

25.

MECP2 duplication: possible cause of severe phenotype in females.

Scott Schwoerer J, Laffin J, Haun J, Raca G, Friez MJ, Giampietro PF.

Am J Med Genet A. 2014 Apr;164A(4):1029-34. doi: 10.1002/ajmg.a.36380. Epub 2014 Jan 23.

PMID:
24458799
26.

The advantage of using SNP array in clinical testing for hematological malignancies--a comparative study of three genetic testing methods.

Xu X, Johnson EB, Leverton L, Arthur A, Watson Q, Chang FL, Raca G, Laffin JJ.

Cancer Genet. 2013 Sep-Oct;206(9-10):317-26. doi: 10.1016/j.cancergen.2013.09.001. Epub 2013 Oct 24.

PMID:
24269304
27.

Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech.

Worthey EA, Raca G, Laffin JJ, Wilk BM, Harris JM, Jakielski KJ, Dimmock DP, Strand EA, Shriberg LD.

J Neurodev Disord. 2013 Oct 2;5(1):29. doi: 10.1186/1866-1955-5-29.

28.

A Unique "Composite" PTLD with Diffuse Large B-Cell and T/Anaplastic Large Cell Lymphoma Components Occurring 17 Years after Transplant.

La Fortune K, Zhang D, Raca G, Ranheim EA.

Case Rep Hematol. 2013;2013:386147. doi: 10.1155/2013/386147. Epub 2013 May 7.

29.

The genomic landscape of hypodiploid acute lymphoblastic leukemia.

Holmfeldt L, Wei L, Diaz-Flores E, Walsh M, Zhang J, Ding L, Payne-Turner D, Churchman M, Andersson A, Chen SC, McCastlain K, Becksfort J, Ma J, Wu G, Patel SN, Heatley SL, Phillips LA, Song G, Easton J, Parker M, Chen X, Rusch M, Boggs K, Vadodaria B, Hedlund E, Drenberg C, Baker S, Pei D, Cheng C, Huether R, Lu C, Fulton RS, Fulton LL, Tabib Y, Dooling DJ, Ochoa K, Minden M, Lewis ID, To LB, Marlton P, Roberts AW, Raca G, Stock W, Neale G, Drexler HG, Dickins RA, Ellison DW, Shurtleff SA, Pui CH, Ribeiro RC, Devidas M, Carroll AJ, Heerema NA, Wood B, Borowitz MJ, Gastier-Foster JM, Raimondi SC, Mardis ER, Wilson RK, Downing JR, Hunger SP, Loh ML, Mullighan CG.

Nat Genet. 2013 Mar;45(3):242-52. doi: 10.1038/ng.2532. Epub 2013 Jan 20.

30.

MLL Rearrangment and EVI1 Deletion in BCR/ABL1 Positive Chronic Myeloid Leukemia.

Ivanov A, Sukhanova M, Raul T, Borinets O, Hui W, Aggarwal V, Raca G.

J Assoc Genet Technol. 2013;39(4):190-4.

PMID:
26030291
31.

Two cases of localized neuroblastoma with multiple segmental chromosomal alterations and metastatic progression.

Morales La Madrid A, Nall MB, Ouyang K, Minor A, Raca G, Kent P, Miller I, Schleiermacher G, Janoueix-Lerosey I, Cohn SL.

Pediatr Blood Cancer. 2013 Feb;60(2):332-5. doi: 10.1002/pbc.24311. Epub 2012 Sep 19.

PMID:
22997192
32.

Acute myeloid leukemia: the challenge of unfavorable cytogenetics.

Raca G, Larson RA.

Oncology (Williston Park). 2012 Aug;26(8):724, 726-7. No abstract available.

33.

Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome.

Raca G, Baas BS, Kirmani S, Laffin JJ, Jackson CA, Strand EA, Jakielski KJ, Shriberg LD.

Eur J Hum Genet. 2013 Apr;21(4):455-9. doi: 10.1038/ejhg.2012.165. Epub 2012 Aug 22.

34.

A case of pediatric γ/δ T-cell malignancy with t(8;14)(q24;q11)/MYC-TCR successfully treated with pulse type chemotherapy followed by stem cell transplant.

Morales La Madrid A, Ouyang K, Raca G, Jamali M, Hyjek E, McNeer JL, Anastasi J.

Leuk Lymphoma. 2013 Feb;54(2):403-5. doi: 10.3109/10428194.2012.708930. Epub 2012 Aug 14. No abstract available.

PMID:
22800289
35.

Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization.

Laffin JJ, Raca G, Jackson CA, Strand EA, Jakielski KJ, Shriberg LD.

Genet Med. 2012 Nov;14(11):928-36. doi: 10.1038/gim.2012.72. Epub 2012 Jul 5. Erratum in: Genet Med. 2013 Jul;15(7):587-8.

36.

Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene.

Laimutis K, Jackson C, Xu X, Warman B, Sarunas R, Andriuskeviciute I, Birute P, Schimmenti LA, Raca G.

Am J Med Genet A. 2012 Jun;158A(6):1437-41. doi: 10.1002/ajmg.a.35342. Epub 2012 May 11.

37.

Phenotype of FOXP2 haploinsufficiency in a mother and son.

Rice GM, Raca G, Jakielski KJ, Laffin JJ, Iyama-Kurtycz CM, Hartley SL, Sprague RE, Heintzelman AT, Shriberg LD.

Am J Med Genet A. 2012 Jan;158A(1):174-81. doi: 10.1002/ajmg.a.34354. Epub 2011 Nov 21.

38.

DNA methylation assay for X-chromosome inactivation in female human iPS cells.

Kiedrowski LA, Raca G, Laffin JJ, Nisler BS, Leonhard K, McIntire E, Mongomery KD.

Stem Cell Rev Rep. 2011 Nov;7(4):969-75. doi: 10.1007/s12015-011-9238-6.

PMID:
21373884
39.

Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma.

Raca G, Jackson CA, Kucinskas L, Warman B, Shieh JT, Schneider A, Bardakjian TM, Schimmenti LA.

Genet Med. 2011 May;13(5):437-42. doi: 10.1097/GIM.0b013e318204cfd2.

40.

Duplication 5q and deletion 9p due to a t(5;9)(q34;p23) in 2 cousins with features of Hunter-McAlpine syndrome and hypothyroidism.

Vásquez-Velásquez AI, García-Castillo HA, González-Mercado MG, Dávalos IP, Raca G, Xu X, Dwyer E, Rivera H.

Cytogenet Genome Res. 2011;132(4):233-8. doi: 10.1159/000321647. Epub 2010 Nov 10.

PMID:
21063078
41.

Chromosomal abnormalities in 2 cases of testicular failure.

Chen X, Raca G, Laffin J, Babaian KN, Williams DH.

J Androl. 2011 May-Jun;32(3):226-31. doi: 10.2164/jandrol.110.010280. Epub 2010 Oct 21.

PMID:
20966427
42.

Next generation sequencing in research and diagnostics of ocular birth defects.

Raca G, Jackson C, Warman B, Bair T, Schimmenti LA.

Mol Genet Metab. 2010 Jun;100(2):184-92. doi: 10.1016/j.ymgme.2010.03.004. Epub 2010 Mar 15.

43.

Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals.

Thorson L, Bryke C, Rice G, Artzer A, Schilz C, Israel J, Huber S, Laffin J, Raca G.

Am J Med Genet A. 2010 Apr;152A(4):904-15. doi: 10.1002/ajmg.a.33340.

PMID:
20358600
44.

Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth.

Raca G, Artzer A, Thorson L, Huber S, Modaff P, Laffin J, Pauli RM.

Am J Med Genet A. 2009 Nov;149A(11):2437-43. doi: 10.1002/ajmg.a.33083.

PMID:
19876905
45.

Mild clinical presentation in a child with prenatally diagnosed 45,X/47,XX,+18 mosaicism.

Tyler CT, Rice GM, Grady M, Raca G.

Am J Med Genet A. 2009 Nov;149A(11):2588-92. doi: 10.1002/ajmg.a.33084. No abstract available.

PMID:
19876897
46.

Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p.

Hauge X, Raca G, Cooper S, May K, Spiro R, Adam M, Martin CL.

Genet Med. 2008 Aug;10(8):599-611. doi: 10.1097GIM.0b013e31817e2bde.

47.

Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance.

Nowaczyk MJ, Carter MT, Xu J, Huggins M, Raca G, Das S, Martin CL, Schwartz S, Rosenfield R, Waggoner DJ.

Am J Med Genet A. 2008 Feb 1;146A(3):354-60. doi: 10.1002/ajmg.a.32144.

PMID:
18203180
48.

Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome.

Raca G, Schimmenti L, Martin CL.

Am J Med Genet A. 2008 Feb 1;146A(3):401-4. doi: 10.1002/ajmg.a.32130. No abstract available.

PMID:
18203172
49.

NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.

Waggoner DJ, Raca G, Welch K, Dempsey M, Anderes E, Ostrovnaya I, Alkhateeb A, Kamimura J, Matsumoto N, Schaeffer GB, Martin CL, Das S.

Genet Med. 2005 Oct;7(8):524-33.

PMID:
16247291

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