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