Beth Torchia

Author PubWeight™ 4.69‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future. Am J Med Genet C Semin Med Genet 2007 1.91
2 Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions. Am J Med Genet A 2010 1.11
3 Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes. Eur J Hum Genet 2011 1.00
4 Homozygous deletion of Tenascin-R in a patient with intellectual disability. J Med Genet 2012 0.76
5 Prenatal diagnosis of 2q32 deletion syndrome characterized by multiple segmental deletions and complex chromosomal rearrangement involving chromosomes 2, 5 and 7. Fetal Diagn Ther 2012 0.75