Defects in the determination of left-right asymmetry.

Tekijä Splitt, M P, Burn, J, Goodship, J
Julkaistu 1996

Multifocal capillary malformations in an older, asymptomatic child with a novel RASA1 mutation

Tekijä Whitaker, S., Leech, S., Taylor, A., Splitt, M., Natarajan, S., Rajan, N.
Julkaisussa Clin Exp Dermatol (2015)

Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy.

Tekijä Penman Splitt, M., Tsai, M. Y., Burn, J., Goodship, J. A.
Julkaistu 1997

Dry skin and blistering in childhood

Tekijä Dubois, A., Arefi, M., Splitt, M. P., Leech, S., Natarajan, S., Rajan, N.
Julkaisussa Clin Exp Dermatol (2016)

A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome

Tekijä Wheway, J, Yau, S, Nihalani, V, Ellis, D, Irving, M, Splitt, M, Roberts, R
Julkaistu 2003

Phacomatosis pigmentokeratotica and precocious puberty associated with HRAS mutation

Tekijä Martin, R.J., Arefi, M., Splitt, M., Redford, L., Moss, C., Rajan, N.
Julkaisussa Br J Dermatol (2017)

PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28.

Tekijä Lindsay, S., Splitt, M., Edney, S., Berney, T. P., Knight, S. J., Davies, K. E., O'Brien, O., Gale, M., Burn, J.
Julkaistu 1996

Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.

Tekijä Tassabehji, M, Metcalfe, K, Karmiloff-Smith, A, Carette, M J, Grant, J, Dennis, N, Reardon, W, Splitt, M, Read, A P, Donnai, D
Julkaistu 1999

Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy

Tekijä Low, KJ, Stals, K, Caswell, R, Wakeling, M, Clayton-Smith, J, Donaldson, A, Foulds, N, Norman, A, Splitt, M, Urankar, K, Vijayakumar, K, Majumdar, A, Study, DDD, Ellard, S, Smithson, SF
Julkaisussa Eur J Hum Genet (2018)

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

Tekijä de Vries, B B A, White, S, Knight, S, Regan, R, Homfray, T, Young, I, Super, M, McKeown, C, Splitt, M, Quarrell, O, Trainer, A, Niermeijer, M, Malcolm, S, Flint, J, Hurst, J, Winter, R
Julkaistu 2001

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in...

Tekijä Evans, D.G., Bowers, N., Burkitt-Wright, E., Miles, E., Garg, S., Scott-Kitching, V., Penman-Splitt, M., Dobbie, A., Howard, E., Ealing, J., Vassalo, G., Wallace, A.J., Newman, W., Huson, S.M.
Julkaisussa EBioMedicine (2016)

FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality

Tekijä Fantes, J.A., Boland, E., Ramsay, J., Donnai, D., Splitt, M., Goodship, J.A., Stewart, H., Whiteford, M., Gautier, P., Harewood, L., Holloway, S., Sharkey, F., Maher, E., van Heyningen, V., Clayton-Smith, J., Fitzpatrick, D.R., Black, G.C.M.
Julkaistu 2008

FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality

Tekijä Fantes, J.A., Boland, E., Ramsay, J., Donnai, D., Splitt, M., Goodship, J.A., Stewart, H., Whiteford, M., Gautier, P., Harewood, L., Holloway, S., Sharkey, F., Maher, E., van Heyningen, V., Clayton-Smith, J., Fitzpatrick, D.R., Black, G.C.M.
Julkaistu 2008

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome

Tekijä Tatton-Brown, K, Douglas, J, Coleman, K, Baujat, G, Chandler, K, Clarke, A, Collins, A, Davies, S, Faravelli, F, Firth, H, Garrett, C, Hughes, H, Kerr, B, Liebelt, J, Reardon, W, Schaefer, G, Splitt, M, Temple, I, Waggoner, D, Weaver, D, Wilson, L, Cole, T, Cormier-Daire, V, Irrthum, A, Rahman, N, on, b
Julkaistu 2005

De novo variants in CNOT3 cause a variable neurodevelopmental disorder

Tekijä Martin, R., Splitt, M., Genevieve, D., Aten, E., Collins, A., de Bie, C. I., Faivre, L., Foulds, N., Giltay, J., Ibitoye, R., Joss, S., Kennedy, J., Kerr, B., Kivuva, E., Koopmans, M., Newbury-Ecob, R., Jean-Marçais, N., Peeters, E. A. J., Smithson, S., Tomkins, S., Tranmauthem, F., Piton, A., van Haeringen, A.
Julkaisussa Eur J Hum Genet (2019)

Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome

Tekijä Beysen, D., Raes, J., Leroy, B. P., Lucassen, A., Yates, J. R. W., Clayton-Smith, J., Ilyina, H., Brooks, S. Sklower, Christin-Maitre, S., Fellous, M., Fryns, J. P., Kim, J. R., Lapunzina, P., Lemyre, E., Meire, F., Messiaen, L. M., Oley, C., Splitt, M., Thomson, J., Peer, Y. Van de, Veitia, R. A., De Paepe, A., De Baere, E.
Julkaistu 2005

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

Tekijä Kmoch, S., Majewski, J., Ramamurthy, V., Cao, S., Fahiminiya, S., Ren, H., MacDonald, I.M., Lopez, I., Sun, V., Keser, V., Khan, A., Stránecký, V., Hartmannová, H., Přistoupilová, A., Hodaňová, K., Piherová, L., Kuchař, L., Baxová, A., Chen, R., Barsottini, O.G.P., Pyle, A., Griffin, H., Splitt, M., Sallum, J., Tolmie, J.L., Sampson, J.R., Chinnery, P., Canada, Care4Rare, Banin, E., Sharon, D., Dutta, S., Grebler, R., Helfrich-Foerster, C., Pedroso, J.L., Kretzschmar, D., Cayouette, M., Koenekoop, R.K.
Julkaisussa Nat Commun (2015)

Large-scale discovery of novel genetic causes of developmental disorders

Tekijä 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
Julkaisussa Nature (2014)