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Phenotypic characterization of primary lymphedema.
Connell F, Brice G, Mortimer P. Connell F, et al. Ann N Y Acad Sci. 2008;1131:140-6. doi: 10.1196/annals.1413.013. Ann N Y Acad Sci. 2008. PMID: 18519967 Review.
Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema.
Gordon K, Schulte D, Brice G, Simpson MA, Roukens MG, van Impel A, Connell F, Kalidas K, Jeffery S, Mortimer PS, Mansour S, Schulte-Merker S, Ostergaard P. Gordon K, et al. Among authors: connell f. Circ Res. 2013 Mar 15;112(6):956-60. doi: 10.1161/CIRCRESAHA.113.300350. Epub 2013 Feb 14. Circ Res. 2013. PMID: 23410910
Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases.
Mansour S, Connell F, Steward C, Ostergaard P, Brice G, Smithson S, Lunt P, Jeffery S, Dokal I, Vulliamy T, Gibson B, Hodgson S, Cottrell S, Kiely L, Tinworth L, Kalidas K, Mufti G, Cornish J, Keenan R, Mortimer P, Murday V; Lymphoedema Research Consortium. Mansour S, et al. Among authors: connell f. Am J Med Genet A. 2010 Sep;152A(9):2287-96. doi: 10.1002/ajmg.a.33445. Am J Med Genet A. 2010. PMID: 20803646
Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.
Connell F, Kalidas K, Ostergaard P, Brice G, Homfray T, Roberts L, Bunyan DJ, Mitton S, Mansour S, Mortimer P, Jeffery S; Lymphoedema Consortium. Connell F, et al. Hum Genet. 2010 Feb;127(2):231-41. doi: 10.1007/s00439-009-0766-y. Epub 2009 Nov 13. Hum Genet. 2010. PMID: 19911200
Clinical and molecular consequences of disease-associated de novo mutations in SATB2.
Bengani H, Handley M, Alvi M, Ibitoye R, Lees M, Lynch SA, Lam W, Fannemel M, Nordgren A, Malmgren H, Kvarnung M, Mehta S, McKee S, Whiteford M, Stewart F, Connell F, Clayton-Smith J, Mansour S, Mohammed S, Fryer A, Morton J; UK10K Consortium, Grozeva D, Asam T, Moore D, Sifrim A, McRae J, Hurles ME, Firth HV, Raymond FL, Kini U, NellÄker C, Ddd Study, FitzPatrick DR. Bengani H, et al. Among authors: connell f. Genet Med. 2017 Aug;19(8):900-908. doi: 10.1038/gim.2016.211. Epub 2017 Feb 2. Genet Med. 2017. PMID: 28151491 Free PMC article.
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
Ostergaard P, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore AT, Loeys BL, Ghalamkarpour A, Onoufriadis A, Martinez-Corral I, Devery S, Leroy JG, van Laer L, Singer A, Bialer MG, McEntagart M, Quarrell O, Brice G, Trembath RC, Schulte-Merker S, Makinen T, Vikkula M, Mortimer PS, Mansour S, Jeffery S. Ostergaard P, et al. Among authors: connell fc. Am J Hum Genet. 2012 Feb 10;90(2):356-62. doi: 10.1016/j.ajhg.2011.12.018. Epub 2012 Jan 26. Am J Hum Genet. 2012. PMID: 22284827 Free PMC article.
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
Ostergaard P, Simpson MA, Connell FC, Steward CG, Brice G, Woollard WJ, Dafou D, Kilo T, Smithson S, Lunt P, Murday VA, Hodgson S, Keenan R, Pilz DT, Martinez-Corral I, Makinen T, Mortimer PS, Jeffery S, Trembath RC, Mansour S. Ostergaard P, et al. Among authors: connell fc. Nat Genet. 2011 Sep 4;43(10):929-31. doi: 10.1038/ng.923. Nat Genet. 2011. PMID: 21892158
Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.
Ostergaard P, Simpson MA, Brice G, Mansour S, Connell FC, Onoufriadis A, Child AH, Hwang J, Kalidas K, Mortimer PS, Trembath R, Jeffery S. Ostergaard P, et al. Among authors: connell fc. J Med Genet. 2011 Apr;48(4):251-5. doi: 10.1136/jmg.2010.085563. Epub 2011 Jan 25. J Med Genet. 2011. PMID: 21266381
FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.
Gordon K, Spiden SL, Connell FC, Brice G, Cottrell S, Short J, Taylor R, Jeffery S, Mortimer PS, Mansour S, Ostergaard P. Gordon K, et al. Among authors: connell fc. Hum Mutat. 2013 Jan;34(1):23-31. doi: 10.1002/humu.22223. Epub 2012 Oct 16. Hum Mutat. 2013. PMID: 23074044 Review.
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.
Jones GE, Ostergaard P, Moore AT, Connell FC, Williams D, Quarrell O, Brady AF, Spier I, Hazan F, Moldovan O, Wieczorek D, Mikat B, Petit F, Coubes C, Saul RA, Brice G, Gordon K, Jeffery S, Mortimer PS, Vasudevan PC, Mansour S. Jones GE, et al. Among authors: connell fc. Eur J Hum Genet. 2014 Jul;22(7):881-7. doi: 10.1038/ejhg.2013.263. Epub 2013 Nov 27. Eur J Hum Genet. 2014. PMID: 24281367 Free PMC article.
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