Eva Pipiras

Author PubWeight™ 8.54^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases.	Ann Genet	2004	1.07
2	Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.	Eur J Med Genet	2009	1.02
3	Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.	Hum Mutat	2012	0.93
4	Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.	Eur J Hum Genet	2012	0.88
5	Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.	Am J Med Genet A	2012	0.85
6	Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis.	Am J Med Genet A	2010	0.79
7	Brief report: visual-spatial deficit in a 16-year-old girl with maternally derived duplication of proximal 15q.	J Autism Dev Disord	2006	0.79
8	Chromosomal microarray analysis in ocular developmental anomalies.	Expert Rev Mol Diagn	2012	0.78
9	Retrospective diagnosis of Pallister-Killian syndrome by CGH array.	Fetal Diagn Ther	2006	0.76
10	First cryptic balanced reciprocal translocation mosaicism and familial transmission.	Am J Med Genet A	2008	0.76
11	Congenital macular dystrophy, corpus callosum agenesis, hippocampi hypoplasia--a novel neuro-ophthalmic syndrome: case report.	Ophthalmic Genet	2011	0.75
12	CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature.	Eur J Hum Genet	2003	0.75