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Page 1
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.
Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, Saponari A, Branney P, Fisher M, Morrison H, Bicknell L, Gautier P, Perry P, Sokhi K, Sexton D, Bardakjian TM, Schneider AS, Elcioglu N, Ozkinay F, Koenig R, Mégarbané A, Semerci CN, Khan A, Zafar S, Hennekam R, Sousa SB, Ramos L, Garavelli L, Furga AS, Wischmeijer A, Jackson IJ, Gillessen-Kaesbach G, Brunner HG, Wieczorek D, van Bokhoven H, Fitzpatrick DR. Rainger J, et al. Among authors: ramsay jk. PLoS Genet. 2011 Jul;7(7):e1002114. doi: 10.1371/journal.pgen.1002114. Epub 2011 Jul 7. PLoS Genet. 2011. PMID: 21750680 Free PMC article.
Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.
Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, Saponari A, Branney P, Fisher M, Morrison H, Bicknell L, Gautier P, Perry P, Sokhi K, Sexton D, Bardakjian TM, Schneider AS, Elcioglu N, Ozkinay F, Koenig R, Mégarbané A, Semerci CN, Khan A, Zafar S, Hennekam R, Sousa SB, Ramos L, Garavelli L, Furga AS, Wischmeijer A, Jackson IJ, Gillessen-Kaesbach G, Brunner HG, Wieczorek D, van Bokhoven H, FitzPatrick DR. Rainger J, et al. Among authors: ramsay jk. PLoS Genet. 2018 Dec 26;14(12):e1007866. doi: 10.1371/journal.pgen.1007866. eCollection 2018 Dec. PLoS Genet. 2018. PMID: 30586382 Free PMC article.
Transcriptome analysis of human autosomal trisomy.
FitzPatrick DR, Ramsay J, McGill NI, Shade M, Carothers AD, Hastie ND. FitzPatrick DR, et al. Hum Mol Genet. 2002 Dec 15;11(26):3249-56. doi: 10.1093/hmg/11.26.3249. Hum Mol Genet. 2002. PMID: 12471051
FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.
Fantes JA, Boland E, Ramsay J, Donnai D, Splitt M, Goodship JA, Stewart H, Whiteford M, Gautier P, Harewood L, Holloway S, Sharkey F, Maher E, van Heyningen V, Clayton-Smith J, Fitzpatrick DR, Black GC. Fantes JA, et al. Am J Hum Genet. 2008 Apr;82(4):916-26. doi: 10.1016/j.ajhg.2008.02.007. Epub 2008 Mar 27. Am J Hum Genet. 2008. PMID: 18374296 Free PMC article.
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.
Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, Kilpatrick N, Lees MM, Picard A, Temple IK, Thomas P, Vazquez MP, Vekemans M, Roest Crollius H, Hastie ND, Munnich A, Etchevers HC, Pelet A, Farlie PG, Fitzpatrick DR, Lyonnet S. Benko S, et al. Nat Genet. 2009 Mar;41(3):359-64. doi: 10.1038/ng.329. Epub 2009 Feb 22. Nat Genet. 2009. PMID: 19234473
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.
Willatt L, Cox J, Barber J, Cabanas ED, Collins A, Donnai D, FitzPatrick DR, Maher E, Martin H, Parnau J, Pindar L, Ramsay J, Shaw-Smith C, Sistermans EA, Tettenborn M, Trump D, de Vries BB, Walker K, Raymond FL. Willatt L, et al. Am J Hum Genet. 2005 Jul;77(1):154-60. doi: 10.1086/431653. Epub 2005 May 25. Am J Hum Genet. 2005. PMID: 15918153 Free PMC article.