Dimitre R Simeonov

Author PubWeight™ 7.78^‹?›

Rank	Title	Journal	Year	PubWeight™‹?›
1	Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.	Eur J Hum Genet	2011	1.18
2	Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis.	Neurology	2012	1.11
3	VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance.	Hum Mutat	2012	1.08
4	Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism.	J Clin Invest	2011	0.99
5	Protein complexes at the microtubule organizing center regulate bipolar spindle assembly.	Cell Cycle	2008	0.90
6	ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.	Am J Med Genet A	2014	0.88
7	A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3).	Biochim Biophys Acta	2012	0.87
8	The mechanical properties of Drosophila jump muscle expressing wild-type and embryonic Myosin isoforms.	Biophys J	2010	0.81