PubRank

Udo Koehler

Author PubWeight™ 10.99‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome. J Med Genet 2011 1.15
2 Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet 2011 1.11
3 In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes. Hum Mol Genet 2009 0.97
4 Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families. Genet Test 2005 0.93
5 CD133 induces tumour-initiating properties in HEK293 cells. Tumour Biol 2012 0.81
6 The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome? Am J Med Genet A 2013 0.81
7 X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity. Orphanet J Rare Dis 2013 0.80
8 CD133 is a predictor of poor survival in head and neck squamous cell carcinomas. Cancer Biomark 2012 0.79
9 A new interphase fluorescence in situ hybridization approach for genomic rearrangements involving MLH1 and MSH6 in hereditary nonpolyposis colorectal cancer-suspected mutation-negative patients. Cancer Genet Cytogenet 2007 0.78
10 Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation--and review of the literature. Eur J Pediatr 2012 0.77
11 Generalized epilepsy in two patients with 5p duplication. Neuropediatrics 2013 0.76
12 Single cell analysis of mutations in the APC gene. Fetal Diagn Ther 2009 0.75
13 Single particle adsorbing transfer system. Biomed Microdevices 2009 0.75