C Windpassinger

Author PubWeight™ 10.32‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene. Neurology 2003 1.48
2 Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome. Am J Hum Genet 2001 1.37
3 Consequences of mutations within the C terminus of the FHL1 gene. Neurology 2009 1.18
4 Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome. Neuropediatrics 2008 1.15
5 Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations. J Med Genet 2003 0.93
6 Candidate region for Gilles de la Tourette syndrome at 7q31. Am J Med Genet 2001 0.91
7 Localization of the human anterior gradient-2 gene (AGR2) to chromosome band 7p21.3 by radiation hybrid mapping and fluorescencein situ hybridisation. Cytogenet Cell Genet 2000 0.91
8 Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development. Cytogenet Genome Res 2006 0.88
9 Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomalies. J Med Genet 2003 0.77
10 Assignment of the human GABAA receptor delta-subunit gene (GABRD) to chromosome band 1p36.3 distal to marker NIB1364 by radiation hybrid mapping. Cytogenet Cell Genet 2000 0.76
11 Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype. Genet Couns 2007 0.75