J A Amos

Author PubWeight™ 16.04^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome.	Nature	1992	2.63
2	Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis.	JAMA	1992	2.11
3	Three additional DNA polymorphisms in the met gene and D7S8 locus: use in prenatal diagnosis of cystic fibrosis.	J Pediatr	1987	1.63
4	Standardization of PCR amplification for fragile X trinucleotide repeat measurements.	Clin Genet	2002	1.15
5	Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity.	Am J Hum Genet	1991	1.06
6	Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene.	Hum Reprod	1995	0.88
7	The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis.	J Androl	1994	0.87
8	Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21.	Am J Hum Genet	1988	0.87
9	46,XY/47,XYY male with the fragile X syndrome: cytogenetic and molecular studies.	Am J Med Genet	1993	0.86
10	Congenital bilateral absence of the vas deferens and cystic fibrosis. A genetic commonality.	World J Urol	1993	0.83
11	Pulmonary function and clinical observations in men with congenital bilateral absence of the vas deferens.	Chest	1996	0.82
12	Relative argininosuccinate synthetase mRNA levels and gene copy number in canavanine-resistant lymphoblasts.	Biochim Biophys Acta	1984	0.82
13	Dystrophin analysis in duchenne muscular dystrophy: use in fetal diagnosis and in genetic counseling.	Am J Hum Genet	1989	0.79
14	Prenatal diagnosis and linkage disequilibrium with cystic fibrosis for markers surrounding D7S8.	Hum Genet	1990	0.75
15	Prenatal diagnosis of myotonic muscular dystrophy with linked deoxyribonucleic acid probes.	Am J Obstet Gynecol	1991	0.75