Atelosteogenesis type 2.

per Newbury-Ecob, R
Publicat 1998

Hypophosphatemic rickets after ifosfamide treatment.

per Newbury-Ecob, R. A., Barbor, P. R.
Publicat 1989

Manifesting heterozygosity in Norrie's disease?

per Woodruff, G, Newbury-Ecob, R, Plaha, D S, Young, I D
Publicat 1993

Pancreatic dysfunction in severe obesity

per Drake, A, Greenhalgh, L, Newbury-Ecob, R, Crowne, E, Shield, J
Publicat 2001

Congenital hereditary endothelial dystrophy associated with nail hypoplasia.

per Stirling, R, Pitts, J, Galloway, N R, Robson, K, Newbury-Ecob, R
Publicat 1994

Sex linked valvular dysplasia.

per Newbury-Ecob, R A, Zuccollo, J M, Rutter, N, Young, I D
Publicat 1993

Holt-Oram syndrome: a clinical genetic study.

per Newbury-Ecob, R A, Leanage, R, Raeburn, J A, Young, I D
Publicat 1996

Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, an...

per Kohlhase, J, Schubert, L, Liebers, M, Rauch, A, Becker, K, Mohammed, S, Newbury-Ecob, R, Reardon, W
Publicat 2003

Thrombocytopenia-absent radius syndrome: a clinical genetic study

per Greenhalgh, K, Howell, R, Bottani, A, Ancliff, P, Brunner, H, Verschuuren-Bemel..., C, Vernon, E, Brown, K, Newbury-Ecob, R
Publicat 2002

A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene.

per Terrett, J. A., Newbury-Ecob, R., Smith, N. M., Li, Q. Y., Garrett, C., Cox, P., Bonnet, D., Lyonnet, S., Munnich, A., Buckler, A. J., Brook, J. D.
Publicat 1996

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients

per Archer, H L, Evans, J, Edwards, S, Colley, J, Newbury‐Ecob, R, O'Callaghan, F, Huyton, M, O'Regan, M, Tolmie, J, Sampson, J, Clarke, A, Osborne, J
Publicat 2006

The mutation spectrum in Holt-Oram syndrome

per CROSS, S., CHING, Y., LI, Q. Y., ARMSTRONG-BUISSER..., L., SPRANGER, S., LYONNET, S., BONNET, D., PENTTINEN, M., JONVEAUX, P., LEHEUP, B., MORTIER, G., VAN RAVENSWAAIJ, C., GARDINER, C., BROOK, J, NEWBURY-ECOB, R.
Publicat 2000

Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth

per Steward, C G, Newbury-Ecob, R A, Hastings, R, Smithson, S F, Tsai-Goodman, B, Quarrell, O W, Kulik, W, Wanders, R, Pennock, M, Williams, M, Cresswell, J L, Gonzalez, I L, Brennan, P
Publicat 2010

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

per Bond, J, Flintoff, K, Higgins, J, Scott, S, Bennet, C, Parsons, J, Mannon, J, Jafri, H, Rashid, Y, Barrow, M, Trembath, R, Woodruff, G, Rossa, E, Lynch, S, Sheilds, J, Newbury-Ecob, R, Falconer, A, Holland, P, Cockburn, D, Karbani, G, Malik, S, Ahmed, M, Roberts, E, Taylor, G, Woods, C
Publicat 2005

De novo variants in CNOT3 cause a variable neurodevelopmental disorder

per 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.
Publicat a Eur J Hum Genet (2019)

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)