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

Volltext

Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions von Mautner, V-F, Kluwe, L, Friedrich, R E, Roehl, A C, Bammert, S, Högel, J, Spöri, H, Cooper, D N, Kehrer-Sawatzki, H

Volltext

Integrating next-generation sequencing into the diagnostic testing of inherited cancer predisposition von Ku, CS, Cooper, DN, Iacopetta, B, Roukos, DH

Volltext

Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes? von Kehrer-Sawatzki, H, Cooper, D N

Volltext

Human Gene Mutation Database: towards a comprehensive central mutation database von Stenson, P D, Ball, E, Howells, K, Phillips, A, Mort, M, Cooper, D N

Volltext

Revealing the human mutome von Chen, JM, Férec, C, Cooper, DN

Volltext

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients von Archer, H L, Whatley, S D, Evans, J C, Ravine, D, Huppke, P, Kerr, A, Bunyan, D, Kerr, B, Sweeney, E, Davies, S J, Reardon, W, Horn, J, MacDermot, K D, Smith, R A, Magee, A, Donaldson, A, Crow, Y, Hermon, G, Miedzybrodzka, Z, Cooper, D N, Lazarou, L, Butler, R, Sampson, J, Pilz, D T, Laccone, F, Clarke, A J

Volltext

Neighboring-Nucleotide Effects on the Rates of Germ-Line Single-Base-Pair Substitution in Human Genes von Krawczak, Michael, Ball, Edward V., Cooper, David N.

Volltext

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients : correlation of disease severity with mutation type and location von CHEADLE, J. P, GILL, H, HUSHES, H, HULTEN, M, RAVINE, D, SAMPSON, J. R, CLARKE, A, FLEMING, N, MAYNARD, J, KERR, A, LEONARD, H, KRAWCZAK, M, COOPER, D. N, LYNCH, S, THOMAS, N

Volltext

The human gene mutation database von Krawczak, Michael, Cooper, David N.

Volltext

Assessing Radiation-Associated Mutational Risk to the Germline: Repetitive DNA Sequences as Mutational Targets and Biomarkers von Bouffler, S. D., Bridges, B. A., Cooper, D. N., Dubrova, Y., McMillan, T. J., Thacker, J., Wright, E. G., Waters, R.

Volltext

D4F104S1 deletion in facioscapulohumeral muscular dystrophy: Phenotype, size, and detection von LEMMERS, R. J. L. F, OSBORN, M, HAAF, T, ROGERS, M, FRANTS, R. R, PADBERG, G. W, COOPER, D. N, VAN DER MAAREL, S. M, UPADHYAYA, M

Volltext

Evaluation of genotype-phenotype correlations in neurofibromatosis type 1 von Castle, B, Baser, M E, Huson, S M, Cooper, D N, Upadhyaya, M

Volltext

Human gene mutation in pathology and evolution von Cooper, D. N.

Volltext

Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation von Zhang, Xinjun, Lin, Hai, Zhao, Huiying, Hao, Yangyang, Mort, Matthew, Cooper, David N., Zhou, Yaoqi, Liu, Yunlong

Volltext

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developm... von UPADHYAYA, M, RUGGIERI, M, KRAWCZAK, M, COOPER, D. N, MAYNARD, J, OSBORN, M, HARTOG, C, MUDD, S, PENTTINEN, M, CORDEIRO, I, PONDER, M, PONDER, B. A. J

Volltext

Gene deletions causing human genetic disease : mechanisms of mutagenesis and the role of the local DNA sequence environment von KRAWCZAK, M, COOPER, D. N

Volltext

A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease von CHEN, Jian-Min, STENSON, Peter D, COOPER, David N, FEREC, Claude

Volltext

Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex von Han, S., Cooper, D.N., Bowden, P.E.

Volltext

Evidence for Export of a Muscle Lectin from Cytosol to Extracellular Matrix and for a Novel Secretory Mechanism von Douglas N. W. Cooper, Barondes, Samuel H.

Volltext