A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease von Ku, C S, Polychronakos, C, Tan, E K, Naidoo, N, Pawitan, Y, Roukos, D H, Mort, M, Cooper, D N

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Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care von Sawyer, S.L., Hartley, T., Dyment, D.A., Beaulieu, C.L., Schwartzentruber, J., Smith, A., Bedford, H.M., Bernard, G., Bernier, F.P., Brais, B., Bulman, D.E., Warman Chardon, J., Chitayat, D., Deladoëy, J., Fernandez, B.A., Frosk, P., Geraghty, M.T., Gerull, B., Gibson, W., Gow, R.M., Graham, G.E., Green, J.S., Heon, E., Horvath, G., Innes, A.M., Jabado, N., Kim, R.H., Koenekoop, R.K., Khan, A., Lehmann, O.J., Mendoza-Londono, R., Michaud, J.L., Nikkel, S.M., Penney, L.S., Polychronakos, C., Richer, J., Rouleau, G.A., Samuels, M.E., Siu, V.M., Suchowersky, O., Tarnopolsky, M.A., Yoon, G., Zahir, F.R., Majewski, J., Boycott, K.M.

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The effect of the MHC locus on autoantibodies in type 1 diabetes von Qu, H-Q, Polychronakos, C

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Regulation of insulin gene expression by cytokines and cell–cell interactions in mouse medullary thymic epithelial cells von Levi, D., Polychronakos, C.

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Functional evaluation of the role of C‐type lectin domain family 16A at the chromosome 16p13 locus von Zouk, H., D'Hennezel, E., Du, X., Ounissi‐Benkalha, H., Piccirillo, C. A., Polychronakos, C.

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Central nervous system involvement in multiple symmetric lipomatosis von Kimiskidis, V.K, Papaliagkas, V, Papayianopoulos, S, Giovos, I, Lazaridis, L, Kazis, D.A, Polychronakos, C, Geroukis, T, Bostanjopoulou, S

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Association of RASGRP1 with type 1 diabetes is revealed by combined follow-up of two genome-wide studies von Qu, Hui-Qi, Grant, Struan FA, Bradfield, Jonathan P, Kim, Cecilia, Frackelton, Edward, Hakonarson, Hakon, Polychronakos, Constantin

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Reassessment of the type I diabetes association of the OAS1 locus von Qu, H-Q, Polychronakos, C

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Impedance‐based detection of DNA sequences using a silicon transducer with PNA as the probe layer von Macanovic, A., Marquette, C., Polychronakos, C., Lawrence, M. F.

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Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome von MITCHELL, J, PUNTHAKEE, Z, RILEY, P, POLYCHRONAKOS, C, LO, B, BERNARD, C, CHONG, K, NEWMAN, C, CARTIER, L, DESILETS, V, CUTZ, E, HANSEN, I. L

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Remapping the type I diabetes association of the CTLA4 locus von Qu, H-Q, Bradfield, J P, Grant, S F A, Hakonarson, H, Polychronakos, C

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The association between the IFIH1 locus and type 1 diabetes von Qu, H.-Q., Marchand, L., Grabs, R., Polychronakos, C.

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Immobilization of homooligonucleotide probe layers onto Si/SiO2 substrates: characterization by electrochemical impedance measurements and radiolabelling von CLOAREC, J. P, DELIGIANIS, N, MARTIN, J. R, LAWRENCE, I, SOUTEYRAND, E, POLYCHRONAKOS, C, LAWRENCE, M. F

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Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study von Qu, H, Tessier, M-C, Hudson, T J, Polychronakos, C

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The type I diabetes association of the IL2RA locus von Qu, H-Q, Bradfield, J P, Bélisle, A, Grant, S F A, Hakonarson, H, Polychronakos, C

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Functional Polymorphism in the Parental Imprinting of the Human IGF2R Gene von Xu, Y.Q., Goodyer, C.G., Deal, C., Polychronakos, C.

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Special issue on structural genomic alterations: ready for prime time von Polychronakos, Constantin

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rs2476601 T allele (R620W) defines high-risk PTPN22 type I diabetes-associated haplotypes with preliminary evidence for an additional protective haplotype von Steck, A K, Baschal, E E, Jasinski, J M, Boehm, B O, Bottini, N, Concannon, P, Julier, C, Morahan, G, Noble, J A, Polychronakos, C, She, J X, Eisenbarth, G S

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Advances in Type I Diabetes Associated Tolerance Mechanisms von Chentoufi, A.A, Binder, N.R, Berka, N, Abunadi, T, Polychronakos, C

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The association between type 1 diabetes and the ITPR3 gene polymorphism due to linkage disequilibrium with HLA class II von Qu, H-Q, Marchand, L, Szymborski, A, Grabs, R, Polychronakos, C

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