Diggle CP, Carr IM, Zitt E, Wusik K, Hopkin RJ, Prada CE, Calabrese O, Rittinger O, Punaro MG, Markham AF, Bonthron DT. (2010). Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy. Rheumatology Mar 18. [Epub ahead of print] PubMed PMID: 20299379 (2010).
Valleley EMA, Cordery SF, Carr IM, Maclennan KA, Bonthron DT. 2010. Loss of expression of ZAC/PLAGL1 in diffuse large B-cell lymphoma is independent of promoter hypermethylation. Genes Chromosomes Cancer 49: 480-486 .
Morgan JE, Carr IM, Sheridan E, Chu CE, Hayward B, Camm N, Lindsay HA, Mattocks CJ, Markham AF, Bonthron DT, Taylor GR. 2010. Genetic diagnosis of familial breast cancer using clonal sequencing. Hum Mutat 31: 484-91.
Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin J, Raymond FL, Childs A, Sheridan E, Edwards S, Josifova DJ. 2010.
Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54
Am J Hum Genet 86: 485-489.
Prasad RB, Hosking FJ, Vijayakrishnan J, Papaemmanuil E, Koehler R, Greaves M, Sheridan E, Gast A, Kinsey SE, Lightfoot T, Roman E, Taylor M, Pritchard-Jones K, Stanulla M, Schrappe M, Bartram CR, Houlston RS, Kumar R, Hemminki K. 2010. Verification of the susceptibility loci on 7p12.2, 10q21.2, and 14q11.2 in precursor B-cell acute lymphoblastic leukemia of childhood. Blood 115: 1765-7
Abdollahi MR, Morrison E, Sirey T, Molnar Z, Hayward BE, Carr IM, Springell K, Woods CG, Ahmed M, Hattingh L, Corry P, Pilz DT, Stoodley N, Crow Y, Taylor GR, Bonthron DT, Sheridan E. 2009
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia
Am J Hum Genet 85: 737-44.
Carr IM, Szymanska K, Sheridan E, Markham AF, Bonthron DT, Johnson CA. 2009.
Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders
Hum Mutat 30: 1642-9.
Yang XR, Ng D, Alcorta DA, Liebsch NJ, Sheridan E, Li S, Goldstein AM, Parry DM, Kelley MJ. 2009.
T (brachyury) gene duplication confers major susceptibility to familial chordoma.
Nat Genet 41: 1176-8.
Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet J, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM, , Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GMH, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P, Pollazzon M, Silengo M, De Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, de Jong MM, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Martorell Sampol L, Rodriguez B, Pascual-Castroviejo I, Teber S, Anlar B, Comu S, Karaca E, Kayserili H, Yüksel A, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hennekam R, Lees M, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D. 2009. Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A 149A: 2173-80.
Papaemmanuil E, Hosking FJ, Vijayakrishnan J, Price A, Olver B, Sheridan E, Kinsey SE, Lightfoot T, Roman E, Irving JAE, Allan JM, Tomlinson IP, Taylor M, Greaves M, Houlston RS. 2009. Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia. Nat Genet 41: 1006-10.
Gilmour DF, Downey LM, Sheridan E, Long V, Bradbury J, Inglehearn CF, Toomes C. 2009.
Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?
Ophthalmology 116: 1522-4.
Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M, Tobin J, Lieberer E, Sterner C, Landoure G, Arora R, Sirimanna T, Thompson D, Cross JH, van't Hoff W, Al Masri O, Tullus K, Yeung S, Anikster Y, Klootwijk E, Hubank M, Dillon MJ, Heitzmann D, Arcos-Burgos M, Knepper MA, Dobbie A, Gahl WA, Warth R, Sheridan E, Kleta R. 2009.
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations
N Engl J Med 360: 1960-70.
Hayward BE, De Vos M, Talati N, Abdollahi MR, Taylor GR, Meyer E, Williams D, Maher ER, Setna F, Nazir K, Hussaini S, Jafri H, Rashid Y, Sheridan E, Bonthron DT. 2009. Genetic and epigenetic analysis of recurrent hydatidiform mole. Hum Mutat 30: E629-39.
Anand S, Sheridan E, Cassidy F, Inglehearn C, Williams G, Springell K, Allgar V, Kelly T, McKibbin M (2009).
Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation
Retina 29: 682-8.
Rice A, Nsengimana J, Simmons IG, Toomes C, Hoole J, Willoughby CE, Cassidy F, Williams GA, George ND, Sheridan E, Young TL, Hunter TI, Barrett BT, Elliott DB, Bishop DT, Inglehearn CF. 2009. Replication of the recessive STBMS1 locus but with dominant inheritance. Invest Ophthalmol Vis Sci 50: 3210-7.
Carr IM, Robinson JI, Dimitriou R, Markham AF, Morgan AW, Bonthron DT. 2009. Inferring relative proportions of DNA variants from sequencing electropherograms. Bioinformatics 25: 3244-50.
Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BCJ, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ. 2009. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet 41: 829-32.
Carr IM, Sheridan E, Hayward BE, Markham AF, Bonthron DT. 2009.
IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease
Hum Mutat 30: 960-7.
Diggle CP, Shires M, Leitch D, Brooke D, Carr IM, Markham AF, Hayward BE, Asipu A, Bonthron DT
Ketohexokinase: expression and localization of the principal fructose-metabolizing enzyme. 2009.
J Histochem Cytochem 57: 763-74.
Trinh CH, Asipu A, Bonthron DT, Phillips SEV. (2009). Structures of alternatively spliced isoforms of human ketohexokinase. Acta Crystallogr D Biol Crystallogr 65: 201-11.
Barber, J.C; Maloney, V.K; Huang, S; Bunyan, D.J; Cresswell, L; Kinning, E; Benson, A; Cheetham, T; Wyllie, J; Lynch, S.A; Zwolinski, S; Prescott, L; Crow, Y; Morgan, R; Hobson, E 2008 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH Eur J Hum Genet Jan;16(1):18-27. Epub 2007 Oct 17
Briggs, T.A; Abdel-Salam, G.M; Balicki, M; Baxter, P; Bertini, E; Bishop, N; Browne, B.H; Chitayat, D; Chong, W.K; Eid, M.M; Halliday, W; Hughes, I; Klusmann-Koy A; Kurian, M; Nischal, K.K; Rice, G.I; Stephenson, J.B; Surtees, R; Talbot, J.F; Tehrani, N.N; Tolmie, J.L; Toomes, C; van der Knaap, M.S; Crow, Y.J 2008 Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) Am J Med Genet A Jan 15;146(2):182-90
Budde, B.S; Namavar, Y; Barth, P.G; Poll-The, B.T; Nürnberg, G; Becker, C; van Ruissen, F; Weterman, M.A; Fluiter, K; T Te Beek, E; Aronica, E; van der Knaap, M.S; Höhne, W; Toliat, M.R; Crow, Y.J; Steinlin, M; Voit, T; Roelens, F; Brussel, W; Brockmann, K; Kyllerman, M; Boltshauser, E; Hammersen, G; Willemsen, M; Basel-Vanagaite, L; Krägeloh-Mann, I; de Vries, L.S; Sztriha, L; Muntoni, F; Ferrie, C.D; Battini, R; Hennekam, R.C; Grillo, E; Beemer, F.A; Stoets, L.M; Wollnik, B; Nürnberg, P; Baas, F. 2008 tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet Aug 17. [Epub ahead of print] PMID: 18711368
Chappell, L; Gorman, S; Campbell, F; Ellard, S; Rice, G; Dobbie, A; Crow, Y. 2008 A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis. Am J Med Genet A 1;146A(13):1713-7
Crow, Y.J; Livingston, J.H 2008 Aicardi-Goutières syndrome: an important Mendelian mimic of congenital
infection Dev Med Child Neurol 50(6):410-416
D'Arrigo, S; Riva, D; Bulgheroni, S; Chiapparini, L; Lebon, P; Rice, G; Crow, Y.J; Pantaleoni, C. 2008 Aicardi-Goutières syndrome: description of a late onset case. Dev Med Child Neurol 50(8):631-4
Jaeger, E; Webb, E; Howarth, K; Carvajal-Carmona, L; Rowan, A; Broderick, P; Walther, A; Spain, S; Pittman, A; Kemp, Z; Sullivan, K; Heinimann, K; Lubbe, S; Domingo, E; Barclay, E; Martin, L; Gorman, M; Chandler, I; Vijayakrishnan, J; Wood, W; Papaemmanuil, E; Penegar, S; Qureshi, M; CORGI Consortium, Farrington, S; Tenesa, A; Cazier, J.B; Kerr, D; Gray, R; Peto, J; Dunlop, M; Campbell, H; Thomas, H; Houlston, R; Tomlinson, I 2008 Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk Nat Genet Jan;40(1):26-8
Joss, S.K; Ghazawy, S; Tomkins, S; Ahmed, M; Bradbury, J; Sheridan, E 2008 Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature Eur J Pediatr Mar;167(3):341-5
Kolivra,s A; Aeby, A; Crow, Y.J; Rice, G.I; Sass, U; André, J 2008 Cutaneous histopathological findings of Aicardi-Goutières syndrome, overlap with chilblain lupus J Cutan Pathol 35(8):774-778
Le Goff , C; Morice-Picard, F; Dagoneau, N; Wang, L.W; Perrot, C; Crow, Y.J; Bauer, F; Flori, E; Prost-Squarcioni, C; Krakow, D; Ge, G; Greenspan, D.S; Bonnet, D; Le Merrer, M; Munnich, A; Apte, S.S; Cormier-Daire, V. 2008 ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet Aug 1. [Epub ahead of print] PMID: 18677313
Orcesi, S; Pessagno, A; Biancheri, R; La Piana, R; Mascaretti, M; Rossi, A; Rice, G.I; Crow, Y.J; Fazzi, E; Veneselli, E. 2008 Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy. Eur J Paediatr Neurol 2(5):408-11
Papaemmanuil, E; Carvajal-Carmona, L; Sellick, G.S; Kemp, Z; Webb, E; Spain, S; Sullivan, K; Barclay, E; Lubbe, S; Jaeger, E; Vijayakrishnan, J; Broderick, P; Gorman, M; Martin, L; Lucassen, A; Bishop, D.T; Evans, D.G; Maher, E.R; Steinke, V; Rahner, N; Schackert, H.K; Goecke, T.O; Holinski-Feder, E; Propping, P; Van Wezel, T; Wijnen, J; Cazier, J.B; Thomas, H; Houlston, R.S; Tomlinson, I. 2008 CORGI Consortium. Deciphering the genetics of hereditary non-syndromic colorectal cancer. Eur J Hum Genet 16(12):1477-86
Péron, S; Metin, A; Gardès, P; Alyanakian, M.A; Sheridan, E; Kratz, C.P; Fischer, A; Durandy, A. 2008 Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination. J Exp Med 205(11):2465-72
Rauch, A; Thiel, C.T; Schindler, D; Wick, U; Crow, Y.J; Ekici, A.B; van Essen, A.J; Goecke, T.O; Al-Gazali, L; Chrzanowska, K.H; Zweier, C; Brunner, H.G; Becker, K; Curry, C.J; Dallapiccola, B; Devriendt, K; Dörfler, A; Kinning, E; Megarbane, A; Meinecke, P; Semple, R.K; Spranger, S; Toutain, A; Trembath, R.C; Voss, E; Wilson, L; Hennekam, R; de Zegher, F; Dörr, H.G; Reis, A 2008 Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science Feb 8; 319 (5864): 816-9
Uppal, S; Diggle, C.P; Carr, I.M; Fishwick, C.W.G; Ahmed, M; Ibrahim, G.H; Helliwell, P.S; Latos-Bieleńska, A; Phillips, S.E.V; Markham, A.F; Bennett, C.P; Bonthron, D.T. 2008. Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy Nat Genet 40:789-793
Wood, N.J; Munot, S; Sheridan, E; Duffy, S.R. 2008. Does a "one-stop" gynecology screening clinic for women in hereditary nonpolyposis colorectal cancer families have an impact on their psychological morbidity and perception of health? Int J Gynecol Cancer Mar-Apr;18(2):279-84
Carr, IM; Valleley, EM; Cordery, SF; Markham, AF; Bonthron, DT. 2007 Sequence analysis and editing for bisulphite genomic sequencing projects. Nucleic Acids Res 35:e79
Childs, A.M; Hutchin, T; Pysden, K; Highet, L; Bamford, J; Livingston, J; Crow, Y.J. 2007 Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.Neuropediatrics 38(6):313-6
Fisher, RB; Pairaudeau, PW; Innes, JR; Bartlett, RJ; Crow YJ. 2007 Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum. Clin Dysmorphol 16:59-61.
Gogi, D; Bond, J; Long, V; Sheridan, E; Woods, CG 2007 Exudative retinopathy in a girl with Alström syndrome due to a novel mutation. Br J Ophthalmol 91:983-4.
Hayward, B.E; De Vos, M; Valleley, E.M; Charlton, R.S; Taylor, G.R; Sheridan, E; Bonthron, D.T 2007 Extensive gene conversion at the PMS2 DNA mismatch repair locus Hum Mut 28:424-30
James, P.A; Cader, M.Z; Muntoni, F; Childs, A.M; Crow, Y.J; Talbot, K 2007 Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene Neurology 67:1710-1712
Joss, SK; Ghazawy, S; Tomkins, S; Ahmed, M; Bradbury, J; Sheridan, E. 2007 Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature. Eur J Pediatr. [Epub ahead of print]
Quarrell, O.W; Rigby, A.S; Barron, L; Crow, Y; Dalton, A; Dennis, N; Fryer, A.E; Heydon, F; Kinning, E; Lashwood, A; Losekoot, M; Margerison, L; McDonnell, S; Morrison, P.J; Norman, A; Peterson, M; Raymond, F.L; Simpson, S; Thompson, E; Warner, J 2007 Reduced penetrance alleles for Huntington’s disease: a multi- centre direct observational study J Med Genet 44:e68
Rajadhyax, M; Neti, G; Crow, Y; Tyagi, A 2007 Neurological presentation of Griscelli syndrome: obstructive hydrocephalus without haematological abnormalities or organomegaly Brain Dev 29:247-250
Rice, G; et al. 2007 Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet 81:713-25.
Rice, G; Newman, W.G; Dean, J; Patrick, T; Parmar, R; Flintoff, K; Robins, P; Harvey, S; Hollis, T; O’Hara, A; Herrick, A.L; Bowden, A.P; Perrino, F.W; Lindahl, T; Barnes, D.E; Crow, Y.J 2007 Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome Am J Hum Genet 80:811-815
Saillour, Y; Zanni, G; Des Portes, V; Heron, D; Guibaud, L; Iba-Zizen, MT; Pedespan, JL; Poirier, K; Castelnau, L; Julien, C; Franconnet, C; Bonthron, D; Porteous, ME; Chelly, J; Bienvenu, T. 2007 Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation withhydrocephalus and calcifications in basal ganglia. J Med Genet 44:739-44.
Saldana, M; Thompson, J; Monk, E; Trump, D; Long, V; Sheridan, E 2007 X-linked retinoschisis in a female with a heterozygous RS1 missense mutation Am J Med Genet A 143:608-6-9
Valleley, E.M; Cordery, S.F; Bonthron, D.T 2007 Tissue-specific imprinting of the ZAC/PLAGL1 tumour suppressor gene results from variable utilization of monoallelic and biallelic promoters Hum Mol Genet 16:972-981
Wood, NJ; Munot, S; Sheridan, E; Duffy, SR 2007 Does a "one-stop" gynecology screening clinic for women in hereditary nonpolyposis colorectal cancer families have an impact on their psychological morbidity and perception of health? Int J Gynecol Cancer Epub ahead of print]
Wood, N.J; Quinton, N.A; Burdall, S; Sheridan, E; Duffy, S.R 2007 Exploring the potential chemopreventative effect of aspirin and rofecoxib on hereditary nonpolyposis colorectal cancer-like endometrial cancer cells in vitro through mechanisms involving apoptosis, the cell cycle, and mismatch repair gene expression Int J Gynecol Cancer 17:447-454