PubRank

Dicky Halley

Author PubWeight™ 18.46‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. Eur J Hum Genet 2005 3.43
2 European-wide opposition against the breast cancer gene patents. Eur J Hum Genet 2002 1.31
3 Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. Hum Mutat 2008 1.27
4 Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. Hum Mutat 2011 1.08
5 Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex. Hum Mutat 2012 1.05
6 A reliable cell-based assay for testing unclassified TSC2 gene variants. Eur J Hum Genet 2008 0.94
7 Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype. PLoS One 2010 0.93
8 Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex. Hum Mutat 2012 0.92
9 Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex. BMC Med Genet 2009 0.92
10 A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years. Epilepsia 2006 0.89
11 Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants. Hum Mutat 2012 0.89
12 Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex. BMC Med Genet 2008 0.88
13 Missense mutations to the TSC1 gene cause tuberous sclerosis complex. Eur J Hum Genet 2008 0.88
14 The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits. BMC Biochem 2012 0.87
15 Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction. Biochim Biophys Acta 2010 0.86
16 Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach. Hum Mutat 2014 0.79
17 An incomplete trisomy 3 rescue resulting in a marker chromosome and UPD(3)--difficulties in interpretation. Prenat Diagn 2008 0.77