Publicaciones Imprimir Peter, Lisa, Jung, Riyue, Frank, Angshumoy, Allison, Melissa, Julien, Sophie, Jennifer, Mathilde, Dominique, Franck, Afane, Olivier, Giselle, Sarah, Mark, Trent, Anita Ng, Ryan, Rebecca, Jeremy, Sharon, Jo, Hussam Al-Kateb , Rose, Joshua, Kenneth, Douglas, Donald, Sharon, Kris, Kenan. DROSHA-related tumor predisposition: a new entity with risk for pineoblastoma and Wilms tumor (Manuscript conditionally accepted for publication) Clinical Cancer Research. 2024. Hussam Al Kateb, Shannon M, Gopinath Sivasankaran, Jesse S, Beth A, Joseph H, Calvin R, Kandeleria M, Jodi L, Nate R, Kim P, Eric A, Chris D, Dragana Milosevic, Joe Thompson, Lori STillmans, Tony T, Surendra Dasari, Amber L, Lisa G, Cris M, Robert B, Sounak Gupta, Benjamin, Kevin. Validation of the TruSight Oncology 500 Assay for the Detection and Reporting of Pan- Cancer Biomarkers – The Mayo Clinic Experience (Manuscript in review) Journal of Molecular Diagnostic. 2024. Whaley RD, Tekin B, McCarthy MR, Zia HM, Pitel BA, Al-Kateb H, Cheville JC, Gupta S. NTRK3-Rearranged Prostatic Acinar Adenocarcinoma: Report of a Patient and Review of the Literature. Int J Surg Pathol. 2024 May 21; 10668969241253197. [Epub ahead of print] View PubMed Al-Kateb H, Au PYB, Berland S, Cogne B, Demurger F, Fluss J, Isidor B, Frank LM, Varvagiannis K, Koolen DA, McDonald M, Montgomery S, Moortgat S, Deprez M, Karadurmus D, Paulsen J, Reis A, Rieger M, Vasileiou G, Willing M, Shinawi M. CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review. Clin Genet. 2024 Mar; 105 (3):294-301 Epub 2023 Dec 03 View PubMed Chen E, Wang J, Kueffner R, Al-Kateb H, Silkov A, Uzilov A, Lochovsky L, Li H, Newman S. CNA Explorer and analyzer (CNAEL): an interactive web application and standard operating procedure enabling efficient clinical review and reporting of complex NGS-derived tumor copy number profiles Genome Medicine. 2023. Mack PC, Klein MI, Ayers KL, Zhou X, Guin S, Fink M, Rossi M, Ai-Kateb H, O'Connell T, Hantash FM, Oh WK, Newman S, Schadt EE, Chen R, Hirsch FR. Targeted Next-Generation Sequencing Reveals Exceptionally High Rates of Molecular Driver Mutations in Never-Smokers With Lung Adenocarcinoma. Oncologist. 2022 Jun 8; 27 (6):476-486 View PubMed Zhang SQ, Fleischer J, Al-Kateb H, Mito Y, Amarillo I, Shinawi M. Intragenic CNTN4 copy number variants associated with a spectrum of neurobehavioral phenotypes. Eur J Med Genet. 2020 Mar; 63(3):103736. Epub 2019 Aug 15. View PubMed Anwer F, Gee KM, Iftikhar A, Baig M, Russ AD, Saeed S, Zar MA, Razzaq F, Carew J, Nawrocki S, Al-Kateb H, Cavalcante Parr NN, McBride A, Valent J, Samaras C. Future of Personalized Therapy Targeting Aberrant Signaling Pathways in Multiple Myeloma. Clin Lymphoma Myeloma Leuk. 2019 Jul; 19(7):397-405. Epub 2019 Mar 25. View PubMed Adams T, Fuchs D, Shadoan PK, Johnstone L, Lau BM, McGhan L, Anwer F, Al-Kateb H. Unexpected favorable outcome in a patient with high grade B-cell lymphoma with abnormalities of MYC, BCL6 and BCL2 loci. Cancer Genet. 2018 Apr; 222-223:25-31. Epub 2018 Feb 03. View PubMed Ma CX, Suman V, Goetz MP, Northfelt D, Burkard ME, Ademuyiwa F, Naughton M, Margenthaler J, Aft R, Gray R, Tevaarwerk A, Wilke L, Haddad T, Moynihan T, Loprinzi C, Hieken T, Barnell EK, Skidmore ZL, Feng YY, Krysiak K, Hoog J, Guo Z, Nehring L, Wisinski KB, Mardis E, Hagemann IS, Vij K, Sanati S, Al-Kateb H, Griffith OL, Griffith M, Doyle L, Erlichman C, Ellis MJ. A Phase II Trial of Neoadjuvant MK-2206, an AKT Inhibitor, with Anastrozole in Clinical Stage II or III PIK3CA-Mutant ER-Positive and HER2-Negative Breast Cancer. Clin Cancer Res. 2017 Nov 15; 23(22):6823-6832. Epub 2017 Sep 05. View PubMed Tandon B, Hagemann IS, Maluf HM, Pfeifer JD, Al-Kateb H. Association of Li-Fraumeni Syndrome With Small Cell Carcinoma of the Ovary, Hypercalcemic Type and Concurrent Pleomorphic Liposarcoma of the Cervix. Int J Gynecol Pathol. 2017 Nov; 36 (6):593-599 View PubMed Ma CX, Bose R, Gao F, Freedman RA, Telli ML, Kimmick G, Winer E, Naughton M, Goetz MP, Russell C, Tripathy D, Cobleigh M, Forero A, Pluard TJ, Anders C, Niravath PA, Thomas S, Anderson J, Bumb C, Banks KC, Lanman RB, Bryce R, Lalani AS, Pfeifer J, Hayes DF, Pegram M, Blackwell K, Bedard PL, Al-Kateb H, Ellis MJC. Neratinib Efficacy and Circulating Tumor DNA Detection of HER2 Mutations in HER2 Nonamplified Metastatic Breast Cancer. Clin Cancer Res. 2017 Oct 01; 23(19):5687-5695. Epub 2017 Jul 05. View PubMed Ma CX, Gao F, Luo J, Northfelt DW, Goetz M, Forero A, Hoog J, Naughton M, Ademuyiwa F, Suresh R, Anderson KS, Margenthaler J, Aft R, Hobday T, Moynihan T, Gillanders W, Cyr A, Eberlein TJ, Hieken T, Krontiras H, Guo Z, Lee MV, Spies NC, Skidmore ZL, Griffith OL, Griffith M, Thomas S, Bumb C, Vij K, Bartlett CH, Koehler M, Al-Kateb H, Sanati S, Ellis MJ. NeoPalAna: Neoadjuvant Palbociclib, a Cyclin-Dependent Kinase 4/6 Inhibitor, and Anastrozole for Clinical Stage 2 or 3 Estrogen Receptor-Positive Breast Cancer. Clin Cancer Res. 2017 Aug 01; 23(15):4055-4065. Epub 2017 Mar 07. View PubMed Schwetye KE, Joseph NM, Al-Kateb H, Rich KM, Schmidt RE, Perry A, Gutmann DH, Dahiya S. Gliosarcomas lack BRAF(V600E) mutation, but a subset exhibit beta-catenin nuclear localization. Neuropathology. 2016 Oct; 36 (5):448-455 Epub 2016 Mar 02 View PubMed Al-Kateb H, Nguyen TT, Steger-May K, Pfeifer JD. Identification of major factors associated with failed clinical molecular oncology testing performed by next generation sequencing (NGS). Mol Oncol. 2015 Nov; 9(9):1737-43. Epub 2015 May 29. View PubMed Shinawi M, Coorg R, Shimony JS, Grange DK, Al-Kateb H. Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes. Clin Genet. 2015 May; 87 (5):478-82 Epub 2014 May 20 View PubMed Hagemann IS, Devarakonda S, Lockwood CM, Spencer DH, Guebert K, Bredemeyer AJ, Al-Kateb H, Nguyen TT, Duncavage EJ, Cottrell CE, Kulkarni S, Nagarajan R, Seibert K, Baggstrom M, Waqar SN, Pfeifer JD, Morgensztern D, Govindan R. Clinical next-generation sequencing in patients with non-small cell lung cancer. Cancer. 2015 Feb 15; 121(4):631-9. Epub 2014 Oct 24. View PubMed Wu N, Ming X, Xiao J, Wu Z, Chen X, Shinawi M, Shen Y, Yu G, Liu J, Xie H, Gucev ZS, Liu S, Yang N, Al-Kateb H, Chen J, Zhang J, Hauser N, Zhang T, Tasic V, Liu P, Su X, Pan X, Liu C, Wang L, Shen J, Shen J, Chen Y, Zhang T, Zhang J, Choy KW, Wang J, Wang Q, Li S, Zhou W, Guo J, Wang Y, Zhang C, Zhao H, An Y, Zhao Y, Wang J, Liu Z, Zuo Y, Tian Y, Weng X, Sutton VR, Wang H, Ming Y, Kulkarni S, Zhong TP, Giampietro PF, Dunwoodie SL, Cheung SW, Zhang X, Jin L, Lupski JR, Qiu G, Zhang F. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med. 2015 Jan 22; 372 (4):341-50 Epub 2015 Jan 07 View PubMed Abel HJ, Al-Kateb H, Cottrell CE, Bredemeyer AJ, Pritchard CC, Grossmann AH, Wallander ML, Pfeifer JD, Lockwood CM, Duncavage EJ. Detection of gene rearrangements in targeted clinical next-generation sequencing. J Mol Diagn. 2014 Jul; 16 (4):405-17 Epub 2014 May 09 View PubMed Al-Kateb H, Khanna G, Filges I, Hauser N, Grange DK, Shen J, Smyser CD, Kulkarni S, Shinawi M. Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement. Am J Med Genet A. 2014 May; 164A(5):1118-26. Epub 2014 Jan 23. View PubMed Cottrell CE, Al-Kateb H, Bredemeyer AJ, Duncavage EJ, Spencer DH, Abel HJ, Lockwood CM, Hagemann IS, O'Guin SM, Burcea LC, Sawyer CS, Oschwald DM, Stratman JL, Sher DA, Johnson MR, Brown JT, Cliften PF, George B, McIntosh LD, Shrivastava S, Nguyen TT, Payton JE, Watson MA, Crosby SD, Head RD, Mitra RD, Nagarajan R, Kulkarni S, Seibert K, Virgin HW 4th, Milbrandt J, Pfeifer JD. Validation of a next-generation sequencing assay for clinical molecular oncology. J Mol Diagn. 2014 Jan; 16(1):89-105. Epub 2013 Nov 06. View PubMed Al-Kateb H, Shimony JS, Vineyard M, Manwaring L, Kulkarni S, Shinawi M. NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay. Am J Med Genet A. 2013 Feb; 161A (2):377-81 Epub 2013 Jan 08 View PubMed Sharma MK, Phillips J, Agarwal S, Wiggins WS, Shrivastava S, Koul SB, Bhattacharjee M, Houchins CD, Kalakota RR, George B, Meyer RR, Spencer DH, Lockwood CM, Nguyen TT, Duncavage EJ, Al-Kateb H, Cottrell CE, Godala S, Lokineni R, Sawant SM, Chatti V, Surampudi S, Sunkishala RR, Darbha R, Macharla S, Milbrandt JD, Virgin HW, Mitra RD, Head RD, Kulkarni S, Bredemeyer A, Pfeifer JD, Seibert K, Nagarajan R. Clinical genomicist workstation. AMIA Jt Summits Transl Sci Proc. 2013; 2013:156-7. Epub 2013 Mar 18. View PubMed Al-Kateb H, Hahn A, Gastier-Foster JM, Jeng L, McCandless SE, Curtis CA. Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies. Am J Med Genet A. 2010 Dec; 152A(12):3148-53. View PubMed Al-Kateb H, Boright AP, Mirea L, Xie X, Sutradhar R, Mowjoodi A, Bharaj B, Liu M, Bucksa JM, Arends VL, Steffes MW, Cleary PA, Sun W, Lachin JM, Thorner PS, Ho M, McKnight AJ, Maxwell AP, Savage DA, Kidd KK, Kidd JR, Speed WC, Orchard TJ, Miller RG, Sun L, Bull SB, Paterson AD, Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Research Group. Multiple superoxide dismutase 1/splicing factor serine alanine 15 variants are associated with the development and progression of diabetic nephropathy: the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Genetics study. Diabetes. 2008 Jan; 57(1):218-28. Epub 2007 Oct 03. View PubMed Meshkani R, Taghikhani M, Al-Kateb H, Larijani B, Khatami S, Sidiropoulos GK, Hegele RA, Adeli K. Polymorphisms within the protein tyrosine phosphatase 1B (PTPN1) gene promoter: functional characterization and association with type 2 diabetes and related metabolic traits. Clin Chem. 2007 Sep; 53 (9):1585-92 Epub 2007 July 18 View PubMed Al-Kateb H, Mirea L, Xie X, Sun L, Liu M, Chen H, Bull SB, Boright AP, Paterson AD, DCCT/EDIC Research Group. Multiple variants in vascular endothelial growth factor (VEGFA) are risk factors for time to severe retinopathy in type 1 diabetes: the DCCT/EDIC genetics study. Diabetes. 2007 Aug; 56(8):2161-8. Epub 2007 May 18. View PubMed Dietter J, Spiegel A, an Mey D, Pflug HJ, Al-Kateb H, Hoffmann K, Wienker TF, Strauch K. Efficient two-trait-locus linkage analysis through program optimization and parallelization: application to hypercholesterolemia. Eur J Hum Genet. 2004 Jul; 12 (7):542-50 View PubMed Al-Kateb H, Bahring S, Hoffmann K, Strauch K, Busjahn A, Nurnberg G, Jouma M, Bautz EK, Dresel HA, Luft FC. Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia. Circ Res. 2002 May 17; 90 (9):951-8 View PubMed al-Kateb H, Zarzzour W, Shameah M, Juoma M. Coronary risk factors of angiographically assessed patients from Syria. J Cardiovasc Risk. 1998 Feb; 5 (1):31-5 View PubMed PST-20568101 Inicio Publicaciones