Epstein CJ - Search Results

1

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. Miller DT, et al. Among authors: epstein cj. Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Am J Hum Genet. 2010. PMID: 20466091 Free PMC article. Review.

2

Developing a national collaborative study system for rare genetic diseases.

Watson MS, Epstein C, Howell RR, Jones MC, Korf BR, McCabe ER, Simpson JL. Watson MS, et al. Genet Med. 2008 May;10(5):325-9. doi: 10.1097/GIM.0b013e31817b80fd. Genet Med. 2008. PMID: 18496030 Free article.

3

Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12).

Sutton VR, McAlister WH, Bertin TK, Kaffe S, Wang JC, Yano S, Shaffer LG, Lee B, Epstein CJ, Villar AJ. Sutton VR, et al. Among authors: epstein cj. Hum Genet. 2003 Oct;113(5):447-51. doi: 10.1007/s00439-003-0981-x. Epub 2003 Aug 21. Hum Genet. 2003. PMID: 12938037

4

The von Recklinghausen neurofibromatosis region on chromosome 17--genetic and physical maps come into focus.

Collins FS, Ponder BA, Seizinger BR, Epstein CJ. Collins FS, et al. Among authors: epstein cj. Am J Hum Genet. 1989 Jan;44(1):1-5. Am J Hum Genet. 1989. PMID: 2491773 Free PMC article. No abstract available.

5

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

Heath KE, Campos-Barros A, Toren A, Rozenfeld-Granot G, Carlsson LE, Savige J, Denison JC, Gregory MC, White JG, Barker DF, Greinacher A, Epstein CJ, Glucksman MJ, Martignetti JA. Heath KE, et al. Among authors: epstein cj. Am J Hum Genet. 2001 Nov;69(5):1033-45. doi: 10.1086/324267. Epub 2001 Oct 4. Am J Hum Genet. 2001. PMID: 11590545 Free PMC article.

6

2010 Victor A. McKusick Leadership Award introduction and address.

Motulsky A, Epstein CJ. Motulsky A, et al. Among authors: epstein cj. Am J Hum Genet. 2011 Mar 11;88(3):269-72. doi: 10.1016/j.ajhg.2011.01.012. Am J Hum Genet. 2011. PMID: 21516616 Free PMC article. No abstract available.

7

Medical genetics in the genomic medicine of the 21st century.

Epstein CJ. Epstein CJ. Am J Hum Genet. 2006 Sep;79(3):434-8. doi: 10.1086/507610. Am J Hum Genet. 2006. PMID: 16909381 Free PMC article. No abstract available.

8

2001 William Allan Award Address. From Down syndrome to the "human" in "human genetics".

Epstein CJ. Epstein CJ. Am J Hum Genet. 2002 Feb;70(2):300-13. doi: 10.1086/338915. Epub 2001 Dec 26. Am J Hum Genet. 2002. PMID: 11791206 Free PMC article. No abstract available.

9

Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH.

Klein OD, Cotter PD, Moore MW, Zanko A, Gilats M, Epstein CJ, Conte F, Rauen KA. Klein OD, et al. Among authors: epstein cj. Clin Genet. 2007 Mar;71(3):260-6. doi: 10.1111/j.1399-0004.2007.00757.x. Clin Genet. 2007. PMID: 17309649

10

Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation.

Eggerding FA, Schonberg SA, Chehab FF, Norton ME, Cox VA, Epstein CJ. Eggerding FA, et al. Among authors: epstein cj. Am J Hum Genet. 1994 Aug;55(2):253-65. Am J Hum Genet. 1994. PMID: 7913578 Free PMC article.

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