Uppala Radhakrishna

Author PubWeight™ 17.02‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Hum Genet 2003 3.02
2 Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Hum Mutat 2008 1.35
3 Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. Am J Hum Genet 2010 1.35
4 A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. Hum Mol Genet 2003 1.32
5 Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis. Am J Med Genet A 2006 1.23
6 Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32. Invest Ophthalmol Vis Sci 2008 1.14
7 Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1. Am J Hum Genet 2006 1.12
8 Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J Med Genet 2011 1.10
9 Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome. Dig Dis Sci 2007 0.96
10 Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region. Am J Med Genet A 2006 0.95
11 Clinical implications of novel activating EGFR mutations in malignant peritoneal mesothelioma. World J Surg Oncol 2010 0.83
12 Hidradenitis suppurativa (or Acne inversa) with autosomal dominant inheritance is not linked to chromosome 1p21.1-1q25.3 region. Exp Dermatol 2010 0.80
13 Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing. Invest Ophthalmol Vis Sci 2011 0.78
14 Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1. Am J Hum Genet 2007 0.78
15 Identification of novel suggestive loci for high-grade myopia in Polish families. Mol Vis 2011 0.76