Yolande van Bever

Author PubWeight™ 9.80^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.	Eur J Hum Genet	2012	1.01
2	A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.	Eur J Hum Genet	2012	0.97
3	Waardenburg syndrome: clinical differentiation between types I and II.	Am J Med Genet A	2003	0.96
4	Legius syndrome in fourteen families.	Hum Mutat	2011	0.95
5	The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.	Eur J Hum Genet	2010	0.95
6	Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.	Hum Mol Genet	2012	0.92
7	Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): a patient report and review.	Am J Med Genet A	2009	0.91
8	Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.	Am J Med Genet C Semin Med Genet	2012	0.86
9	Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.	Am J Med Genet A	2012	0.84
10	Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia.	Am J Hum Genet	2009	0.82
11	ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome.	Am J Med Genet A	2013	0.79
12	Sequencing of the DKK1 gene in patients with anorectal malformations and hypospadias.	Eur J Pediatr	2014	0.75