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