Splicing in action: assessing disease causing sequence changes

per Baralle, D, Baralle, M
Publicat 2005

Myoclonic movement disorder associated with microdeletion of chromosome 22q11

per Baralle, D, Trump, D, ffrench-Constant, C, Dick, D
Publicat 2002

Benign familial infantile convulsions: report of a UK family and confirmation of genetic heterogeneity

per BARALLE, D, DEARLOVE, A, BEACH, R, FFRENCH-CONSTANT, C, REID, E
Publicat 2000

Human NDE1 splicing and mammalian brain development

per Mosca, S., Raponi, M., Meneghello, A., Buratti, E., Woods, C. G., Baralle, D.
Publicat a Sci Rep (2017)

Re: Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1 (Messiaen and Wimmer)

per Whittaker, J, Mattocks, C, Baralle, D, Tarpey, P, ffrench-Constant, C, Bobrow, M
Publicat 2005

Re: Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1 (Messiaen and Wimmer)

per Whittaker, J, Mattocks, C, Baralle, D, Tarpey, P, ffrench-Constant, C, Bobrow, M
Publicat 2005

Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11–17 distinct from the GAP related domain

per Mattocks, C, Baralle, D, Tarpey, P, ffrench-Constant, C, Bobrow, M, Whittaker, J
Publicat 2004

A prospective study of neurofibromatosis type 1 cancer incidence in the UK

per Walker, L, Thompson, D, Easton, D, Ponder, B, Ponder, M, Frayling, I, Baralle, D
Publicat 2006

Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain

per Naik, S., Thomas, N.S., Davies, J.H., Lever, M., Raponi, M., Baralle, D., Temple, I.K., Caliebe, A.
Publicat 2012

Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence for an epilepsy loc...

per Whitehouse, W P, Rees, M, Curtis, D, Sundqvist, A, Parker, K, Chung, E, Baralle, D, Gardiner, R M
Publicat 1993

Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay

per Baralle, M, Baralle, D, De Conti, L, Mattocks, C, Whittaker, J, Knezevich, A, ffrench-Constant, C, Baralle, F
Publicat 2003

An intronic mutation in MLH1 associated with familial colon and breast cancer

per Bianchi, F., Raponi, M., Piva, F., Viel, A., Bearzi, I., Galizia, E., Bracci, R., Belvederesi, L., Loretelli, C., Brugiati, C., Corradini, F., Baralle, D., Cellerino, R.
Publicat 2010

An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phe...

per Upadhyaya, M., Huson, S. M., Davies, M., Thomas, N., Chuzhanova, N., Giovannini, S., Evans, D. G., Howard, E., Kerr, B., Griffiths, S., Consoli, C., Side, L., Adams, D., Pierpont, M., Hachen, R., Barnicoat, A., Li, H., Wallace, P., Van Biervliet, J. P., Stevenson, D., Viskochil, D., Baralle, D., Haan, E., Riccardi, V., Turnpenny, P., Lazaro, C., Messiaen, L.
Publicat 2007

Large-scale discovery of novel genetic causes of developmental disorders

per Fitzgerald, TW, Gerety, SS, Jones, WD, van Kogelenberg, M, King, DA, McRae, J, Morley, KI, Parthiban, V, Al-Turki, S, Ambridge, K, Barrett, DM, Bayzetinova, T, Clayton, S, Coomber, EL, Gribble, S, Jones, P, Krishnappa, N, Mason, LE, Middleton, A, Miller, R, Prigmore, E, Rajan, D, Sifrim, A, Tivey, AR, Ahmed, M, Akawi, N, Andrews, R, Anjum, U, Archer, H, Armstrong, R, Balasubramanian, M, Banerjee, R, Baralle, D, Batstone, P, Baty, D, Bennett, C, Berg, J, Bernhard, B, Bevan, AP, Blair, E, Blyth, M, Bohanna, D, Bourdon, L, Bourn, D, Brady, A, Bragin, E, Brewer, C, Brueton, L, Brunstrom, K, Bumpstead, SJ, Bunyan, DJ, Burn, J, Burton, J, Canham, N, Castle, B, Chandler, K, Clasper, S, Clayton-Smith, J, Cole, T, Collins, A, Collinson, MN, Connell, F, Cooper, N, Cox, H, Cresswell, L, Cross, G, Crow, Y, D’Alessandro, M, Dabir, T, Davidson, R, Davies, S, Dean, J, Deshpande, C, Devlin, G, Dixit, A, Dominiczak, A, Donnelly, C, Donnelly, D, Douglas, A, Duncan, A, Eason, J, Edkins, S, Ellard, S, Ellis, P, Elmslie, F, Evans, K, Everest, S, Fendick, T, Fisher, R, Flinter, F, Foulds, N, Fryer, A, Fu, B, Gardiner, C, Gaunt, L, Ghali, N, Gibbons, R, Gomes Pereira, SL, Goodship, J, Goudie, D, Gray, E, Greene, P, Greenhalgh, L, Harrison, L, Hawkins, R, Hellens, S, Henderson, A, Hobson, E, Holden, S, Holder, S, Hollingsworth, G, Homfray, T, Humphreys, M, Hurst, J, Ingram, S, Irving, M, Jarvis, J, Jenkins, L, Johnson, D, Jones, D, Jones, E, Josifova, D, Joss, S, Kaemba, B, Kazembe, S, Kerr, B, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kivuva, E, Kraus, A, Kumar, D, Lachlan, K, Lam, W, Lampe, A, Langman, C, Lees, M, Lim, D, Lowther, G, Lynch, SA, Magee, A, Maher, E, Mansour, S, Marks, K, Martin, K, Maye, U, McCann, E, McConnell, V, McEntagart, M, McGowan, R, McKay, K, McKee, S, McMullan, DJ, McNerlan, S, Mehta, S, Metcalfe, K, Miles, E, Mohammed, S, Montgomery, T, Moore, D, Morgan, S, Morris, A, Morton, J, Mugalaasi, H, Murday, V, Nevitt, L, Newbury-Ecob, R, Norman, A, O'Shea, R, Ogilvie, C, Park, S, Parker, MJ, Patel, C, Paterson, J, Payne, S, Phipps, J, Pilz, DT, Porteous, D, Pratt, N, Prescott, K, Price, S, Pridham, A, Procter, A, Purnell, H, Ragge, N, Rankin, J, Raymond, L, Rice, D, Robert, L, Roberts, E, Roberts, G, Roberts, J, Roberts, P, Ross, A, Rosser, E, Saggar, A, Samant, S, Sandford, R, Sarkar, A, Schweiger, S, Scott, C, Scott, R, Selby, A, Seller, A, Sequeira, C, Shannon, N, Sharif, S, Shaw-Smith, C, Shearing, E, Shears, D, Simonic, I, Simpkin, D, Singzon, R, Skitt, Z, Smith, A, Smith, B, Smith, K, Smithson, S, Sneddon, L, Splitt, M, Squires, M, Stewart, F, Stewart, H, Suri, M, Sutton, V, Swaminathan, GJ, Sweeney, E, Tatton-Brown, K, Taylor, C, Taylor, R, Tein, M, Temple, IK, Thomson, J, Tolmie, J, Torokwa, A, Treacy, B, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Vasudevan, P, Vogt, J, Wakeling, E, Walker, D, Waters, J, Weber, A, Wellesley, D, Whiteford, M, Widaa, S, Wilcox, S, Williams, D, Williams, N, Woods, G, Wragg, C, Wright, M, Yang, F, Yau, M, Carter, NP, Parker, M, Firth, HV, FitzPatrick, DR, Wright, CF, Barrett, JC, Hurles, ME
Publicat a Nature (2014)