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High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, Sell SL, Steinraths M, Surti U, McGuire M, Williams S, Farrell SA, Filiano J, Schnur RE, Coffey LB, Tervo RC, Stroud T, Marble M, Netzloff M, Hanson K, Aylsworth AS, Bamforth JS, Babu D, Niyazov DM, Ravnan JB, Schultz RA, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG. Ballif BC, et al. Among authors: ravnan jb. Hum Genet. 2012 Jan;131(1):145-56. doi: 10.1007/s00439-011-1073-y. Epub 2011 Jul 29. Hum Genet. 2012. PMID: 21800092
The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes.
Shaffer LG, Coppinger J, Morton SA, Alliman S, Burleson J, Traylor R, Walker C, Byerly S, Lamb AN, Schultz R, Ravnan JB, Kashork CD, Torchia BS, Sulpizio S, Sundin K, Schermer M, Adler K, Dallaire S, Ballif BC. Shaffer LG, et al. Among authors: ravnan jb. Prenat Diagn. 2011 Aug;31(8):778-87. doi: 10.1002/pd.2766. Epub 2011 Jun 21. Prenat Diagn. 2011. PMID: 21692086
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.
Shuvarikov A, Campbell IM, Dittwald P, Neill NJ, Bialer MG, Moore C, Wheeler PG, Wallace SE, Hannibal MC, Murray MF, Giovanni MA, Terespolsky D, Sodhi S, Cassina M, Viskochil D, Moghaddam B, Herman K, Brown CW, Beck CR, Gambin A, Cheung SW, Patel A, Lamb AN, Shaffer LG, Ellison JW, Ravnan JB, Stankiewicz P, Rosenfeld JA. Shuvarikov A, et al. Among authors: ravnan jb. Hum Mutat. 2013 Oct;34(10):1415-23. doi: 10.1002/humu.22384. Epub 2013 Aug 13. Hum Mutat. 2013. PMID: 23878096 Free PMC article.
Clinical utility of chromosomal microarray analysis.
Ellison JW, Ravnan JB, Rosenfeld JA, Morton SA, Neill NJ, Williams MS, Lewis J, Torchia BS, Walker C, Traylor RN, Moles K, Miller E, Lantz J, Valentin C, Minier SL, Leiser K, Powell BR, Wilks TM, Shaffer LG. Ellison JW, et al. Among authors: ravnan jb. Pediatrics. 2012 Nov;130(5):e1085-95. doi: 10.1542/peds.2012-0568. Epub 2012 Oct 15. Pediatrics. 2012. PMID: 23071206
21 results