Items where Author is "Chen, JM"

Journal article

QUEMENER, S., CHEN, J.M., CHUZHANOVA, N., BÉNECH, C., CASALS, T., MACEK, M., BIENVENU, T., MCDEVITT, T., FARRELL, P.M., LOUMI, O., MESSAOUD, T., CUPPENS, H., CUTTING, G.R., STENSON, P.D., GITEAU, K., AUDRÉZET, M.P., COOPER, D.N. and FÉREC, C., 2010. Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci. Human Mutation, 31, pp. 421-428.

COOPER, D.N., CHEN, J.M., BALL, E.V., HOWELLS, K., MORT, M., PHILLIPS, A.D., CHUZHANOVA, N., KEHRER-SAWATZKI, H. and STEPHENS, M., 2010. Genes, mutations and human inherited disease at the dawn of the 100K mutome era. Human Mutation, 31, pp. 631-655.

CHUZHANOVA, N., CHEN, J.M., BACOLLA, A., PATRINOS, G.P., FEREC, C., WELLS, R.D. and COOPER, D.N., 2009. Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair. Human Mutation, 30 (8), pp. 1189-1198. ISSN 1059-7794

MASSON, E., LE, M., LEVY, P., CHUZHANOVA, N., COOPER, D.N., CHEN, J.M. and FÉREC, C., 2007. Coinheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis. Molecular Genetics and Metabolism, 92, pp. 168-175.

CHEN, J.M., FÉREC, C., CHUZHANOVA, N., COOPER, D.N. and PATRINOS, G.P., 2007. Gene conversion in evolution and disease. Nature Reviews Genetics, 8, pp. 762-775.

CHEN, J.M., CHUZHANOVA, N.A., STENSON, P.D., FÉREC, C. and COOPER, D.N., 2005. Complex gene rearrangements caused by serial replication slippage. Human Mutation, 26, pp. 125-134.

CHEN, J.M., CHUZHANOVA, N.A., STENSON, P.D., FÉREC, C. and COOPER, D.N., 2005. Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions. Human Mutation, 26, pp. 362-374.

CHEN, J.M., CHUZHANOVA, N.A., STENSON, P.D., FÉREC, C. and COOPER, D.N., 2005. Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage. Human Mutation, 25, pp. 207-221.

AUDRÉZET, M.P., CHEN, J.M., RAGUÉNÈS, O., CHUZHANOVA, N., GITEAU, K., LE, M., QUÉRÉ, I., COOPER, D.N. and FÉREC, C., 2004. Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Human Mutation, 23, pp. 343-357.

LE, M., CHEN, J.M., LE, G., PLESSIS, G., CHIPPONI, J., CHUZHANOVA, N.A., RAGUÉNÈS, O. and FÉREC, C., 2004. Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial or/and hereditary pancreatitis. Human Mutation (Mutation in Brief) (683).

FÉREC, C., CHEN, J.M., RAGUÉNÈS, O., CHUZHANOVA, N., GITEAU, K., EL, M., LE, M., QUÉRÉ, I. and AUDRÉZET, M.P., 2003. Rapid screening of large genomic rearrangements in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene by Quantitative Multiplex Polymerase Chain Reaction of Short Fluorescent Fragments (QMPSF) analysis: high detection rate and diverse mutational mechanisms. American Journal of Human Genetics, 73 (5), p. 559.

LE, M., CHEN, J.M., LE, G., PLESSIS, G., CHIPPONI, J., CHUZHANOVA, N.A., RAGUÉNÈS, O. and FÉREC, C., 2003. Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial or/and hereditary pancreatitis. American Journal of Human Genetics, 73 (5), p. 565.