Nowak N - Search Results

1

Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay.

Williams SR, Girirajan S, Tegay D, Nowak N, Hatchwell E, Elsea SH. Williams SR, et al. Among authors: nowak n. J Med Genet. 2010 Apr;47(4):223-9. doi: 10.1136/jmg.2009.068072. Epub 2009 Sep 14. J Med Genet. 2010. PMID: 19752160

2

17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.

Girirajan S, Williams S, Garbern J, Nowak N, Hatchwell E, Elsea S. Girirajan S, et al. Among authors: nowak n. Clin Genet. 2007 Jul;72(1):47-58. doi: 10.1111/j.1399-0004.2007.00831.x. Clin Genet. 2007. PMID: 17594399

3

Disruption of contactin 4 in three subjects with autism spectrum disorder.

Roohi J, Montagna C, Tegay DH, Palmer LE, DeVincent C, Pomeroy JC, Christian SL, Nowak N, Hatchwell E. Roohi J, et al. Among authors: nowak n. J Med Genet. 2009 Mar;46(3):176-82. doi: 10.1136/jmg.2008.057505. Epub 2008 Mar 18. J Med Genet. 2009. PMID: 18349135 Free PMC article.

4

Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1).

Girirajan S, Mendoza-Londono R, Vlangos CN, Dupuis L, Nowak NJ, Bunyan DJ, Hatchwell E, Elsea SH. Girirajan S, et al. Among authors: nowak nj. Am J Med Genet A. 2007 May 1;143A(9):999-1008. doi: 10.1002/ajmg.a.31689. Am J Med Genet A. 2007. PMID: 17431895

5

Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.

Christian SL, Brune CW, Sudi J, Kumar RA, Liu S, Karamohamed S, Badner JA, Matsui S, Conroy J, McQuaid D, Gergel J, Hatchwell E, Gilliam TC, Gershon ES, Nowak NJ, Dobyns WB, Cook EH Jr. Christian SL, et al. Biol Psychiatry. 2008 Jun 15;63(12):1111-7. doi: 10.1016/j.biopsych.2008.01.009. Epub 2008 Mar 28. Biol Psychiatry. 2008. PMID: 18374305 Free PMC article.

6

A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism.

Kumar RA, Sudi J, Babatz TD, Brune CW, Oswald D, Yen M, Nowak NJ, Cook EH, Christian SL, Dobyns WB. Kumar RA, et al. J Med Genet. 2010 Feb;47(2):81-90. doi: 10.1136/jmg.2008.065821. Epub 2009 Jun 21. J Med Genet. 2010. PMID: 19546099 Free PMC article.

7

Analytical and clinical validity of whole-genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay.

Xiang B, Li A, Valentin D, Nowak NJ, Zhao H, Li P. Xiang B, et al. Am J Med Genet A. 2008 Aug 1;146A(15):1942-54. doi: 10.1002/ajmg.a.32411. Am J Med Genet A. 2008. PMID: 18627053

8

Recurrent 16p11.2 microdeletions in autism.

Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA, Gilliam TC, Nowak NJ, Cook EH Jr, Dobyns WB, Christian SL. Kumar RA, et al. Hum Mol Genet. 2008 Feb 15;17(4):628-38. doi: 10.1093/hmg/ddm376. Epub 2007 Dec 21. Hum Mol Genet. 2008. PMID: 18156158

9

Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization.

Goidts V, Armengol L, Schempp W, Conroy J, Nowak N, Müller S, Cooper DN, Estivill X, Enard W, Szamalek JM, Hameister H, Kehrer-Sawatzki H. Goidts V, et al. Among authors: nowak n. Hum Genet. 2006 Mar;119(1-2):185-98. doi: 10.1007/s00439-005-0130-9. Epub 2006 Jan 5. Hum Genet. 2006. PMID: 16395594

10

Challenges in array comparative genomic hybridization for the analysis of cancer samples.

Nowak NJ, Miecznikowski J, Moore SR, Gaile D, Bobadilla D, Smith DD, Kernstine K, Forman SJ, Mhawech-Fauceglia P, Reid M, Stoler D, Loree T, Rigual N, Sullivan M, Weiss LM, Hicks D, Slovak ML. Nowak NJ, et al. Genet Med. 2007 Sep;9(9):585-95. doi: 10.1097/gim.0b013e3181461c4a. Genet Med. 2007. PMID: 17873646 Free article.

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