| 1 | Concomitant deletion of the short arm (del(1p13.3)) and amplification or gain (1q21) of chromosome 1 by fluorescence in situ hybridization are associated with a poor clinical outcome in multiple myeloma. (Mohan M, Gong Z, Ashby TC, Al Hadidi S, Thanendrarajan S, Schinke C, Alapat D, Shaughnessy JD Jr, Zhan F, van Rhee F, Sawyer JR, Tian E, Zangari M) Cancer 2023 Aug 15;129(16):2491-2498 3 Citations |
| 2 | Integrative Modeling, Molecular Mechanics, and Molecular Dynamics Evaluation of Genomics Variants in KMT2C (MLL3), a Gene Involved in Kleefstra Syndrome Type 2. (Jorge SD, Chi YI, de Assuncao TM, Mathison AJ, Volkman B, Smith B, Lomberk G, Zimmermann MT, Urrutia R) FASEB J 2022 May;36 Suppl 1 |
| 1 | Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype. (Qaiser F, Yin Y, Mervis CB, Morris CA, Klein-Tasman BP, Tam E, Osborne LR, Yuen RKC) Orphanet J Rare Dis 2021 Jan 06;16(1):6 5 Citations |
| 1 | [Analysis of a pedigree with partial trisomy 9 and partial monosomy 13 derived from a maternal balanced t(9;13) translocation]. (Sha Y, Mei L, Ji Z, Wang X, Lin S, Li L) Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Apr 10;36(4):336-339 1 Citation |
| 1 | Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior. (Kopp ND, Parrish PCR, Lugo M, Dougherty JD, Kozel BA) Mol Genet Genomic Med 2018 Sep;6(5):749-765 7 Citations |
| 1 | Prediction of outcome in newly diagnosed myeloma: a meta-analysis of the molecular profiles of 1905 trial patients. (Shah V, Sherborne AL, Walker BA, Johnson DC, Boyle EM, Ellis S, Begum DB, Proszek PZ, Jones JR, Pawlyn C, Savola S, Jenner MW, Drayson MT, Owen RG, Houlston RS, Cairns DA, Gregory WM, Cook G, Davies FE, Jackson GH, Morgan GJ, Kaiser MF) Leukemia 2018 Jan;32(1):102-110 162 Citations |
| 2 | A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding. (Blackburn PR, Tischer A, Zimmermann MT, Kemppainen JL, Sastry S, Knight Johnson AE, Cousin MA, Boczek NJ, Oliver G, Misra VK, Gavrilova RH, Lomberk G, Auton M, Urrutia R, Klee EW) J Biol Chem 2017 Mar 03;292(9):3866-3876 15 Citations |
| 1 | Current state of hematopoietic cell transplantation in CLL as smart therapies emerge. (Kharfan-Dabaja MA, El-Asmar J, Awan FT, Hamadani M, Ayala E) Best Pract Res Clin Haematol 2016 Mar;29(1):54-66 6 Citations |
| 2 | 8q21.11 microdeletion in two patients with syndromic peters anomaly. (Happ H, Schilter KF, Weh E, Reis LM, Semina EV) Am J Med Genet A 2016 Sep;170(9):2471-5 17 Citations |
| 7 | Effect of 22q11.2 deletion on bleeding and transfusion utilization in children with congenital heart disease undergoing cardiac surgery. (Brenner MK, Clarke S, Mahnke DK, Simpson P, Bercovitz RS, Tomita-Mitchell A, Mitchell ME, Newman DK) Pediatr Res 2016 Feb;79(2):318-24 25 Citations |
| 2 | Early therapy-related myeloid sarcoma and deletion of 9q22.32 to q31.1. (Brickler MM, Basel DG, Gheorghe G, Margolis DM, Kelly ME, Ehrhardt MJ) Pediatr Blood Cancer 2014 Sep;61(9):1701-3 2 Citations |
| 1 | Impact of targeted therapy on outcome of chronic lymphocytic leukemia patients with relapsed del(17p13.1) karyotype at a single center. (Stephens DM, Ruppert AS, Jones JA, Woyach J, Maddocks K, Jaglowski SM, Andritsos LA, Flynn JM, Grever MR, Lozanski G, Johnson AJ, Muthusamy N, Heerema NA, Byrd JC) Leukemia 2014 Jun;28(6):1365-8 18 Citations |
| 1 | A case of 22q11.2 deletion syndrome with Peters anomaly, congenital glaucoma, and heterozygous mutation in CYP1B1. (Reis LM, Tyler RC, Zori R, Burgess J, Mueller J, Semina EV) Ophthalmic Genet 2015 Mar;36(1):92-4 4 Citations |
| 1 | Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome. (Hosoki K, Ohta T, Natsume J, Imai S, Okumura A, Matsui T, Harada N, Bacino CA, Scaglia F, Jones JY, Niikawa N, Saitoh S) Am J Med Genet A 2012 Aug;158A(8):1891-6 24 Citations |
| 1 | Predictive and prognostic markers in colorectal cancer. (George B, Kopetz S) Curr Oncol Rep 2011 Jun;13(3):206-15 42 Citations |
| 1 | Graft-versus-host disease: role of inflammation in the development of chromosomal abnormalities of keratinocytes. (Sloand EM, Pfannes L, Ling C, Feng X, Jasek M, Calado R, Tucker ZC, Hematti P, Maciejewski J, Dunbar C, Barrett J, Young N) Biol Blood Marrow Transplant 2010 Dec;16(12):1665-73 19 Citations |
| 1 | Loss of Phosphatase and Tensin homologue deleted on chromosome 10 engages ErbB3 and insulin-like growth factor-I receptor signaling to promote antiestrogen resistance in breast cancer. (Miller TW, Pérez-Torres M, Narasanna A, Guix M, Stål O, Pérez-Tenorio G, Gonzalez-Angulo AM, Hennessy BT, Mills GB, Kennedy JP, Lindsley CW, Arteaga CL) Cancer Res 2009 May 15;69(10):4192-201 149 Citations |
| 1 | Phase II trial of preirradiation and concurrent temozolomide in patients with newly diagnosed anaplastic oligodendrogliomas and mixed anaplastic oligoastrocytomas: RTOG BR0131. (Vogelbaum MA, Berkey B, Peereboom D, Macdonald D, Giannini C, Suh JH, Jenkins R, Herman J, Brown P, Blumenthal DT, Biggs C, Schultz C, Mehta M) Neuro Oncol 2009 Apr;11(2):167-75 61 Citations |
| 1 | The human Penumbra gene is mapped to a region on chromosome 7 frequently deleted in myeloid malignancies. (Chen Z, Pasquini M, Hong B, DeHart S, Heikens M, Tsai S) Cancer Genet Cytogenet 2005 Oct 15;162(2):95-8 13 Citations |
| 1 | Characterization of FRA6E and its potential role in autosomal recessive juvenile parkinsonism and ovarian cancer. (Denison SR, Callahan G, Becker NA, Phillips LA, Smith DI) Genes Chromosomes Cancer 2003 Sep;38(1):40-52 118 Citations |
| 1 | Large cell/anaplastic medulloblastomas and medullomyoblastomas: clinicopathological and genetic features. (Leonard JR, Cai DX, Rivet DJ, Kaufman BA, Park TS, Levy BK, Perry A) J Neurosurg 2001 Jul;95(1):82-8 90 Citations |
| 1 | The Williams syndrome cognitive profile. (Mervis CB, Robinson BF, Bertrand J, Morris CA, Klein-Tasman BP, Armstrong SC) Brain Cogn 2000 Dec;44(3):604-28 326 Citations |
| 1 | Cervical cancer suppressor gene is within 1 cM on 6p23. (Rader JS, Li Y, Huettner PC, Xu Z, Gerhard DS) Genes Chromosomes Cancer 2000 Apr;27(4):373-9 12 Citations |
| 1 | Hand involvement in 13q deletion syndrome. (Grindel SI, Sandlin C, Wood VE) J Pediatr Orthop 1999;19(5):620-3 3 Citations |
| 1 | Frequent deletions within FRA7G at 7q31.2 in invasive epithelial ovarian cancer. (Huang H, Reed CP, Mordi A, Lomberk G, Wang L, Shridhar V, Hartmann L, Jenkins R, Smith DI) Genes Chromosomes Cancer 1999 Jan;24(1):48-55 40 Citations |
| 1 | Loss of heterozygosity in clinical stage IB cervical carcinoma: relationship with clinical and histopathologic features. (Huettner PC, Gerhard DS, Li L, Gersell DJ, Dunnigan K, Kamarasova T, Rader JS) Hum Pathol 1998 Apr;29(4):364-70 37 Citations |
| 1 | Allelotyping of all chromosomal arms in invasive cervical cancer. (Rader JS, Kamarasova T, Huettner PC, Li L, Li Y, Gerhard DS) Oncogene 1996 Dec 19;13(12):2737-41 89 Citations |
| 1 | Potential role of the inactivated X chromosome in ovarian epithelial tumor development. (Cheng PC, Gosewehr JA, Kim TM, Velicescu M, Wan M, Zheng J, Felix JC, Cofer KF, Luo P, Biela BH, Godorov G, Dubeau L) J Natl Cancer Inst 1996 Apr 17;88(8):510-8 76 Citations |
| 1 | A region of consistent deletion in neuroblastoma maps within human chromosome 1p36.2-36.3. (White PS, Maris JM, Beltinger C, Sulman E, Marshall HN, Fujimori M, Kaufman BA, Biegel JA, Allen C, Hilliard C, Valentine MB, Look AT, Enomoto H, Sakiyama S, Brodeur GM) Proc Natl Acad Sci U S A 1995 Jun 06;92(12):5520-4 234 Citations |
| 1 | Chromosome 8 alterations accompany tumorigenesis in renin-SV40 T antigen transgenic mice. (Held WA, O'Brien JG, Kerns K, Gallagher JF, Sigmund CD, Gross KW) Cancer Res 1994 Dec 15;54(24):6496-9 5 Citations |
| 1 | Preferential amplification of the paternal allele in neuroblastomas with N-myc amplification. (Cheng JM, Hiemstra JL, Schneider SS, Kaufman BA, Naumova A, Cheung NK, Cohn SL, Diller L, Sapienza C, Brodeur GM) Prog Clin Biol Res 1994;385:43-9 4 Citations |
| 1 | The carboxyl terminus of the S1 subunit of pertussis toxin confers high affinity binding to transducin. (Cortina G, Krueger KM, Barbieri JT) J Biol Chem 1991 Dec 15;266(35):23810-4 21 Citations |
| 1 | Biochemical and biophysical characterization of the reovirus cell attachment protein sigma 1: evidence that it is a homotrimer. (Strong JE, Leone G, Duncan R, Sharma RK, Lee PW) Virology 1991 Sep;184(1):23-32 64 Citations |
| 1 | The N-terminal quarter of reovirus cell attachment protein sigma 1 possesses intrinsic virion-anchoring function. (Mah DC, Leone G, Jankowski JM, Lee PW) Virology 1990 Nov;179(1):95-103 36 Citations |
| 1 | The function of micF RNA. micF RNA is a major factor in the thermal regulation of OmpF protein in Escherichia coli. (Andersen J, Forst SA, Zhao K, Inouye M, Delihas N) J Biol Chem 1989 Oct 25;264(30):17961-70 116 Citations |
| 1 | Analysis of breakpoints within the bcr gene and their correlation with the clinical course of Philadelphia-positive chronic myelogenous leukemia. (Shtalrid M, Talpaz M, Kurzrock R, Kantarjian H, Trujillo J, Gutterman J, Yoffe G, Blick M) Blood 1988 Aug;72(2):485-90 112 Citations |
| 1 | An additional case of deletion 17p11.2. (Popp DW, Johnson CP, Stratton RF) Am J Med Genet 1987 Feb;26(2):493-5 10 Citations |
