Thomas Markello

Author PubWeight™ 8.87^‹?›

Rank	Title	Journal	Year	PubWeight™‹?›
1	Detecting false-positive signals in exome sequencing.	Hum Mutat	2012	1.87
2	Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.	PLoS Genet	2011	1.54
3	Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.	Eur J Hum Genet	2011	1.18
4	Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis.	Neurology	2012	1.11
5	Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).	Neuromuscul Disord	2013	0.90
6	Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases.	Mol Genet Metab	2008	0.84
7	Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.	Eur J Hum Genet	2013	0.79
8	Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in China.	Front Med	2013	0.75