S A Boyadjiev

Author PubWeight™ 9.18^‹?›

Rank	Title	Journal	Year	PubWeight™‹?›
1	Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.	Am J Hum Genet	2000	1.85
2	High frequency in vivo loss of heterozygosity is primarily a consequence of mitotic recombination.	Cancer Res	1997	1.48
3	Epidemiological survey of 214 families with bladder exstrophy-epispadias complex.	J Urol	2008	0.93
4	Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations.	Hum Genet	2006	0.91
5	Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome.	J Med Genet	1998	0.91
6	Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly.	Clin Genet	2005	0.88
7	Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis.	Hum Mol Genet	1994	0.87
8	The relationship of plasma glutamine to ammonium and of glycine to acid-base balance in propionic acidaemia.	J Inherit Metab Dis	2003	0.83
9	Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia.	J Inherit Metab Dis	2000	0.83
10	Analysis of in vivo somatic mutations at the APRT locus.	Adv Exp Med Biol	1994	0.75