PubRank
Search
About
Viv K Maloney
Author PubWeight™ 17.23
‹?›
Top papers
Rank
Title
Journal
Year
PubWeight™
‹?›
1
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
N Engl J Med
2008
10.88
2
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.
Eur J Hum Genet
2007
1.36
3
Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties.
Eur J Hum Genet
2008
1.22
4
Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy.
Am J Med Genet A
2009
0.98
5
8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.
Am J Med Genet A
2013
0.92
6
8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families.
Mol Cytogenet
2010
0.90
7
Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype.
Eur J Hum Genet
2006
0.79
8
16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.
Eur J Hum Genet
2012
0.79
9
Transmitted duplication of 12q21.32-12q22 includes 48 genes and has no apparent phenotypic consequences.
Am J Med Genet A
2007
0.75