Elisabeth Gabau

Author PubWeight™ 5.51^‹?›

Rank	Title	Journal	Year	PubWeight™‹?›
1	BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1.	BMC Med Genet	2009	1.15
2	Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome.	Am J Med Genet A	2006	0.95
3	Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions.	Am J Med Genet A	2009	0.93
4	Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes.	Eur J Med Genet	2006	0.89
5	Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia.	Behav Brain Funct	2008	0.83
6	Prader-Willi and Angelman syndromes: genetic counseling.	Eur J Hum Genet	2009	0.80
7	MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).	J Mol Diagn	2013	0.75
8	[Prader Willi syndrome patients: study of 77 patients].	Med Clin (Barc)	2009	0.75