C Pescucci

Author PubWeight™ 7.77^‹?›

Rank	Title	Journal	Year	PubWeight™‹?›
1	CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms.	J Med Genet	2005	1.51
2	A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears.	Eur J Med Genet	2007	1.08
3	A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients.	J Med Genet	2003	0.98
4	Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view.	J Cell Physiol	2005	0.92
5	Overexpression of ETV4 is oncogenic in prostate cells through promotion of both cell proliferation and epithelial to mesenchymal transition.	Oncogenesis	2012	0.88
6	Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH.	J Hum Genet	2007	0.87
7	Germline mosaicism in Rett syndrome identified by prenatal diagnosis.	Clin Genet	2005	0.82
8	Isolation of fetal cells from the maternal circulation: prospects for the non-invasive prenatal diagnosis.	Clin Chem Lab Med	2001	0.78