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