Carsten M Pusch

Author PubWeight™ 31.97‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Ancestry and pathology in King Tutankhamun's family. JAMA 2010 6.31
2 New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing. Nat Commun 2012 3.18
3 Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). Am J Hum Genet 2004 1.67
4 Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell. Hum Mol Genet 2009 1.21
5 Genetic heterogeneity of deafness phenotypes linked to DFNA4. Am J Med Genet A 2005 1.05
6 Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. Eur J Hum Genet 2002 1.03
7 Comment on "The brain of LB1, Homo floresiensis". Science 2005 1.00
8 Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mapping. Int J Mol Med 2008 0.98
9 First insights into the metagenome of Egyptian mummies using next-generation sequencing. J Appl Genet 2013 0.95
10 Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene. Graefes Arch Clin Exp Ophthalmol 2002 0.94
11 A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness. Am J Ophthalmol 2003 0.93
12 Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat retina. Invest Ophthalmol Vis Sci 2003 0.93
13 Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases. Cancer Genet Cytogenet 2004 0.92
14 Cytokine regulation of the trefoil factor family binding protein GKN2 (GDDR/TFIZ1/blottin) in human gastrointestinal epithelial cells. Cell Physiol Biochem 2007 0.91
15 Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form. Hum Mol Genet 2008 0.90
16 Cytotoxic activity of natural killer cells lacking killer-inhibitory receptors for self-HLA class I molecules against autologous hematopoietic stem cells in healthy individuals. Exp Mol Pathol 2004 0.88
17 Revisiting the harem conspiracy and death of Ramesses III: anthropological, forensic, radiological, and genetic study. BMJ 2012 0.86
18 Epigenetic alterations by methylation of RASSF1A and DAPK1 promoter sequences in mammary carcinoma detected in extracellular tumor DNA. Cancer Genet Cytogenet 2010 0.85
19 Autoimmune retinopathy with RPE hypersensitivity and 'negative ERG' in X-linked hyper-IgM syndrome. Ocul Immunol Inflamm 2005 0.83
20 A decade in search of myopia genes. Front Biosci (Landmark Ed) 2010 0.81
21 Visceral Leishmaniasis during Italian Renaissance, 1522-1562. Emerg Infect Dis 2012 0.80
22 Population haplotypes of exon ORF15 of the retinitis pigmentosa GTPase regulator gene in Germany : implications for screening for inherited retinal disorders. Mol Diagn Ther 2006 0.80
23 Multifocal oscillatory potentials in CSNB1 and CSNB2 type congenital stationary night blindness. Int J Mol Med 2005 0.79
24 Fossil record of meningioma. Lancet 2003 0.78
25 Mutational risk in highly repetitive exon ORF15 of the RPGR multidisease gene is not associated with haplotype background. Int J Mol Med 2005 0.78
26 Lack of Tff3 peptide results in hearing impairment and accelerated presbyacusis. Cell Physiol Biochem 2008 0.78
27 Molecular identification of falciparum malaria and human tuberculosis co-infections in mummies from the Fayum depression (Lower Egypt). PLoS One 2013 0.78
28 Paleopathological examination of medieval spines with exceptional thoracic kyphosis most likely secondary to spinal tuberculosis. Historical vignette. J Neurosurg Spine 2004 0.78
29 Archaeology and prevalence of Paget's disease. J Bone Miner Res 2005 0.75
30 Enlightening the past: analytical proof for the use of Pistacia exudates in ancient Egyptian embalming resins. J Sep Sci 2011 0.75
31 Detection of bone glue treatment as a major source of contamination in ancient DNA analyses. Am J Phys Anthropol 2002 0.75
32 Fronto-ethmoidal encephalocele in a historical skull with artificial deformation and no signs of chronic elevated intracranial pressure. Acta Neurochir (Wien) 2008 0.75
33 Uncommon cytidine-homopolymer dimorphism in 5'-UTR of the human otoferlin gene. Int J Mol Med 2003 0.75
34 Reduced expression of connexin 31.1 in larynx cancer is not caused by GJB5 mutations. Cancer Lett 2004 0.75