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About
Fred Gilbert
Author PubWeight™ 8.61
‹?›
Top papers
Rank
Title
Journal
Year
PubWeight™
‹?›
1
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.
Pediatr Res
2005
1.38
2
Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.
PLoS One
2010
0.93
3
Allelic imbalance in selected chromosomal regions in ovarian cancer.
Cancer Genet Cytogenet
2002
0.90
4
Preimplantation genetic diagnosis of human congenital heart malformation and Holt-Oram syndrome.
Am J Med Genet A
2004
0.82
5
Infertility and abnormal cervical mucus in two sisters who are compound heterozygotes for the cystic fibrosis (CF) DeltaF508 and R117H/7T mutations.
Fertil Steril
2008
0.80
6
Frequent LOH at hMLH1, a highly variable SNP in hMSH3, and negligible coding instability in ovarian cancer.
Anticancer Res
2002
0.79
7
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.
Mol Genet Metab
2010
0.78
8
Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies.
Mol Cytogenet
2012
0.78
9
Questions raised by BRCA1/2-carrier screening programs.
Genet Test
2002
0.75
10
A proposed role for consumers and the general public as consumers of health care in community-wide genetic testing.
Genet Test
2002
0.75
11
Correlation between rare chromosomal abnormalities and prenatal ultrasound findings.
Am J Med Genet
2002
0.75