Marypat Jones

Author PubWeight™ 6.95‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. Blood 2010 2.00
2 GWAS reveals new recessive loci associated with non-syndromic facial clefting. Eur J Med Genet 2012 0.88
3 Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion. Am J Med Genet A 2009 0.87
4 Comparison of the complete mtDNA genome sequences of human cell lines--HL-60 and GM10742A--from individuals with pro-myelocytic leukemia and leber hereditary optic neuropathy, respectively, and the inclusion of HL-60 in the NIST human mitochondrial DNA standard reference material--SRM 2392-I. Mitochondrion 2003 0.84
5 Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human. PLoS Genet 2010 0.83
6 Hereditary prostate cancer in Finland: fine-mapping validates 3p26 as a major predisposition locus. Hum Genet 2004 0.82
7 Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort. Birth Defects Res A Clin Mol Teratol 2012 0.75