Nexus Copy Number - Publications
Below is a partial list of user publications citing Nexus Copy Number.
Genetics of uveal melanoma
Hanneke W Mensink, Dion Paridaens, Annelies de Klein Expert Review of
Ophthalmology, December 2009, Vol. 4, No. 6, Pages 607-616. [Link]
Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease.
Huang J, Wu X, Montenegro G, Price J, Wang G, Vance JM, Shy ME, Züchner S. J Neurol. 2009 Dec 1. [Epub ahead of print] [PubMed]
Genomic Landscape of Meningiomas.
Lee Y, Liu J, Patel S, Cloughesy T, Lai A, Farooqi H, Seligson D, Dong
J, Liau L, Becker D, Mischel P, Shams S, Nelson S.Brain Pathol. 2009
Nov 20. [Epub ahead of print] [PubMed]
Glioblastoma Proto-oncogene SEC61-gamma Is Required for Tumor Cell Survival and Response to Endoplasmic Reticulum Stress.
Lu Z, Zhou L, Killela P, Rasheed AB, Di C, Poe WE, McLendon RE, Bigner
DD, Nicchitta C, Yan H. Cancer Res. 2009 Nov 17. [Epub ahead of print] [PubMed]
High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians
Hajime Matsuzaki , Pei-Hua Wang , Jing Hu , Rich Rava and Glenn K Fu,
Genome Biology 2009, 9 Nov., 10:R125 [Article]
CNTNAP2 and NRXN1 are mutated in autosomal-recessive
Pitt-Hopkins-like mental retardation and determine the level of a
common synaptic protein in Drosophila.
Zweier C, de Jong EK, Zweier M, Orrico A, Ousager LB, Collins AL,
Bijlsma EK, Oortveld MA, Ekici AB, Reis A, Schenck A, Rauch A. Am J Hum
Genet. 2009 Nov;85(5):655-66. Epub 2009 Nov 5. [PubMed]
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.
Gregory SG, Connelly JJ, Towers AJ, Johnson J, Biscocho D, Markunas CA,
Lintas C, Abramson RK, Wright HH, Ellis P, Langford CF, Worley G,
Delong GR, Murphy SK, Cuccaro ML, Persico A, Pericak-Vance MA.
BMC Med. 2009 Oct 22;7:62. [PubMed]
Disruption of ST5 is associated with mental-retardation and multiple congenital anomalies.
Göhring I, Tagariello A, Endele S, Stolt CC, Ghassibé M, Fisher M,
Thiel CT, Trautmann U, Vikkula M, Winterpacht A, Fitzpatrick DR, Rauch
A. J Med Genet. 2009 Oct 19. [Epub ahead of print] [PubMed]
Gunnarsson R, Isaksson A, Mansouri M, Göransson H, Jansson M, Cahill N, Rasmussen M, Staaf J, Lundin J, Norin S, Buhl AM, Smedby KE, Hjalgrim H, Karlsson K, Jurlander J, Juliusson G, Rosenquist R. Leukemia. 2009 Sep 10. [PubMed]
Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci.
Bendavid C, Rochard L, Dubourg C, Seguin J, Gicquel I, Pasquier L, Vigneron J, Laquerrière A, Marcorelles P, Jeanne-Pasquier C, Rouleau C, Jaillard S, Mosser J, Odent S, David V. Hum Mutat. 2009 Aug;30(8):1175-82. [Pubmed]
A highly annotated whole-genome sequence of a Korean individual.
Kim JI, Ju YS, Park H, Kim S, Lee S, Yi JH, Mudge J, Miller NA, Hong D, Bell CJ, Kim HS, Chung IS, Lee WC, Lee JS, Seo SH, Yun JY, Woo HN, Lee H, Suh D, Lee S, Kim HJ, Yavartanoo M, Kwak M, Zheng Y, Lee MK, Park H, Kim JY, Gokcumen O, Mills RE, Zaranek AW, Thakuria J, Wu X, Kim RW, Huntley JJ, Luo S, Schroth GP, Wu TD, Kim H, Yang KS, Park WY, Kim H, Church GM, Lee C, Kingsmore SF, Seo JS. Nature. 2009 Jul 8. [Pubmed]
Gene copy number and malaria biology.
Anderson TJ, Patel J, Ferdig MT. Trends Parasitol. 2009 Jul;25(7):336-43. Epub 2009 Jun 24. [Pubmed]
DNA copy number variation and gene expression analyses reveal the implication of specific oncogenes and genes in GBM.
Margareto J, Leis O, Larrarte E, Pomposo IC, Garibi JM, Lafuente JV. Cancer Invest. 2009 Jun;27(5):541-8. [Pubmed]
High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings.
Tyreman M, Abbott KM, Willatt LR, Nash R, Lees C, Whittaker J, Simonic I. J Med Genet. 2009 Aug;46(8):531-41. Epub 2009 May 17. [PubMed]
Copy Number Variation in African Americans.
Joseph P. McElroy, Matthew R. Nelson, Stacy J. Caillier, Jorge, R. Oksenberg. BMC Genetics 2009, 10:15. [Article Link]
Genomic aberrations in squamous cell lung carcinoma related to lymph node or distant metastasis.
Boelens MC, Kok K, van der Vlies P, van der Vries G, Sietsma H, Timens W, Postma DS, Groen HJ, van den Berg A. Lung Cancer. 2009 Mar 24. [Epub ahead of print]. [Pubmed]
Customized oligonucleotide array-based comparative genomic hybridization as a clinical assay for genomic profiling of chronic lymphocytic leukemia
Sargent R, Jones D, Abruzzo LV, Yao H, Bonderover J, Cisneros M, Wierda WG, Keating MJ, Luthra R. J Mol Diagn. 2009 Jan;11(1):25-34. Epub 2008 Dec 12. [PubMed]
6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development
Göhring Ina; Blümlein Hans-Martin; Hoyer Juliane; Ekici Arif B; Trautmann Udo; Rauch Anita. Eur J Med Genet. 2008 Nov-Dec;51(6):666-71. Epub 2008 Aug 12. [PubMed]
Multiple sub-microscopic genomic lesions are a universal feature of chronic myeloid leukaemia at diagnosis
Khorashad JS, De Melo VA, Fiegler H, Gerrard G, Marin D, Apperley JF, Goldman JM, Foroni L, Reid AG. Leukemia. 2008 Sep;22(9):1806-7. Epub 2008 Jul 31. [Abstract] [PubMed]
3.8 MB Deletion of Chromosome 5q in a Newborn Tracheal Agenesis Patient
Elisabeth de Jong, Hannie Douben, Bert Eussen, Dick Tibboel and Annelies de Klein. Poster presentation at ASHG 2008, Philadelphia, PA [Poster]
DNA Copy Number Stratification of Breast Cancer Samples Identifies Distinct Biological Mechanisms
S. Shams, R. Davis, B. Poirier, J. Gregg. Poster presentation at AACR Translational Cancer Medicine Conference, July 2008, San Diego, CA. [Poster]
Detection of copy number alterations in metastatic melanoma by a DNA fluorescence in situ hybridization probe panel and array comparative genomic hybridization: a southwest oncology group study (S9431)
Moore SR, Persons DL, Sosman JA, Bobadilla D, Bedell V, Smith DD, Wolman SR, Tuthill RJ, Moon J, Sondak VK, Slovak ML. Detection of copy number alterations in metastatic melanoma by a DNA fluorescence in situ hybridization probe panel and array comparative genomic hybridization: a southwest oncology group study (S9431). Clin Cancer Res. 2008 May 15;14(10):2927-35. [PubMed]
A de-novo 7.6 Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay
Thiel CT, Dörr HG, Trautmann U, Hoyer J, Hofmann K, Kraus C, Ekici AB, Reis A, Rauch A. A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay. Eur J Med Genet. 2008 Jul-Aug; 51(4):362-7. Epub 2008 Mar 20. [PubMed]
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
Tom Walsh, Jon M. McClellan, Shane E. McCarthy, Anjene M. Addington, Sarah B. Pierce, Greg M. Cooper, Alex S. Nord, Mary Kusenda, Dheeraj Malhotra, Abishek Bhandari, Sunday M. Stray, Caitlin F. Rippey, Patricia Roccanova, Vlad Makarov, B. Lakshmi, Robert L. Findling, Linmarie Sikich, Thomas Stromberg , Barry Merriman, Nitin Gogtay, Philip Butler, Kristen Eckstrand, Laila Noory, Peter Gochman, Robert Long, Zugen Chen, Sean Davis, Carl Baker, Evan E. Eichler, Paul S. Meltzer, Stanley F. Nelson, Andrew B. Singleton, Ming K. Lee, Judith L. Rapoport, Mary-Claire King, Jonathan Sebat. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science, 27 March 2008. (10.1126/science.1155174). [Abstract]
Challenges In Array CGH For the Analysis Of Cancer Samples
Nowak NJ, Miecznikowski J, Moore SR, Gaile D, Bobadilla D, Smith DD, Kernstine K, Forman SJ, Mwahech-Fauceglia P, Reid M, Stoler D, Loree T, Rigual N, Sullivan M, Weiss LM, Hicks D, Slovak ML. Challenges In Array CGH For the Analysis Of Cancer Samples. Genetics in Medicine, 9(9): 585-595, 2007. [PubMed]
