Lack of involvement of known DNA methyltransferases in familial hydatidiform mole implies the involvement of other factors in establishment of imprinting in the human female germli...

por Hayward, B E, De Vos, M, Judson, H, Hodge, D, Huntriss, J, Picton, H M, Sheridan, E, Bonthron, DT
Publicado 2003

Investigation into the Importance of genes encoding ciliary proteins in congenital heart disease using whole exome sequencing

por Hartill, V, Logan, C, Parry, DA, Szymanska, K, Ashcroft, K, English, K, Prescott, K, Dobbie, A, Barwick, S, Bennett, C, Goodship, J, Sheridan, E, Johnson, C
Publicado 2015

Phenotypic variability of CCDC103 mutation in British Pakistani children with Primary Ciliary Dyskinesia (PCD)

por Robson, E, Moya, E, Burgoyne, T, Chetcuti, P, Dixon, M, Hirst, R, Hogg, C, Mitchison, H, O'Callaghan, C, Onoufriadis, A, Patel, M, Rutman, A, Sheridan, E, Shoemark, A
Publicado 2015

Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome

por Kelmemi, W., Teeuw, M. E., Bochdanovits, Z., Ouburg, S., Jonker, M. A., Alkuraya, F., Hashem, M., Kayserili, H., van Haeringen, A., Sheridan, E., Masri, A., Cobben, J. M., Rizzu, P., Kostense, P. J., Dommering, C. J., Henneman, L., Bouhamed-Chaabouni, H., Heutink, P., ten Kate, L. P., Cornel, M. C.
Publicado 2015

Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151

por Onoufriadis, A, Hjeij, R, Watson, CM, Slagle, CE, Klena, NT, Dougherty, GW, Kurkowiak, M, Loges, NT, Diggle, CP, Morante, NF, Gabriel, GC, Lemke, KL, Li, Y, Pennekamp, P, Menchen, T, Marthin, JK, Mans, D, Letteboer, SJ, Werner, C, Burgoyne, T, Westermann, C, Rutman, A, Carr, IM, O'Callaghan, C, Moya, E, Chung, EMK, Sheridan, E, Nielsen, KG, Roepman, R, Burdine, RD, Lo, CW, Omran, H, Mitchison, H
Publicado 2015

A genome-wide association study identifies risk loci for childhood acute lymphoblastic leukemia at 10q26.13 and 12q23.1

por Vijayakrishnan, J, Kumar, R, Henrion, M Y R, Moorman, A V, Rachakonda, P S, Hosen, I, da Silva Filho, M I, Holroyd, A, Dobbins, S E, Koehler, R, Thomsen, H, Irving, J A, Allan, J M, Lightfoot, T, Roman, E, Kinsey, S E, Sheridan, E, Thompson, P D, Hoffmann, P, Nöthen, M M, Heilmann-Heimbach, S, Jöckel, K H, Greaves, M, Harrison, C J, Bartram, C R, Schrappe, M, Stanulla, M, Hemminki, K, Houlston, R S
Publicado 2017