Dominique F C M Smeets

Author PubWeight™ 8.13^‹?›

Rank	Title	Journal	Year	PubWeight™‹?›
1	Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome.	Am J Med Genet A	2008	1.37
2	UroVysion compared with cytology and quantitative cytology in the surveillance of non-muscle-invasive bladder cancer.	Eur Urol	2006	1.32
3	Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.	Am J Hum Genet	2011	1.24
4	Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.	Hum Mutat	2012	1.19
5	The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies.	Eur J Med Genet	2009	0.78
6	Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome.	Eur J Med Genet	2013	0.77
7	Women's Attitudes towards the Option to Choose between Karyotyping and Rapid Targeted Testing during Pregnancy.	Obstet Gynecol Int	2013	0.77
8	Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome.	J Clin Endocrinol Metab	2011	0.76
9	Karyotype-specific ear and hearing problems in young adults with Turner syndrome and the effect of oxandrolone treatment.	Otol Neurotol	2014	0.75