|
1
|
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.
|
Science
|
2008
|
4.04
|
|
2
|
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
|
Am J Med Genet A
|
2015
|
1.60
|
|
3
|
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.
|
Eur J Hum Genet
|
2007
|
1.36
|
|
4
|
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.
|
Am J Hum Genet
|
2012
|
1.10
|
|
5
|
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
|
Am J Med Genet A
|
2013
|
1.04
|
|
6
|
Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.
|
Hum Mol Genet
|
2003
|
0.99
|
|
7
|
An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5.
|
Invest Ophthalmol Vis Sci
|
2003
|
0.91
|
|
8
|
Germline FH mutations presenting with pheochromocytoma.
|
J Clin Endocrinol Metab
|
2014
|
0.89
|
|
9
|
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
|
Hum Mutat
|
2015
|
0.87
|
|
10
|
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.
|
Neurogenetics
|
2010
|
0.85
|
|
11
|
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
|
Am J Med Genet C Semin Med Genet
|
2012
|
0.84
|
|
12
|
Novel features in auriculo-condylar syndrome.
|
Clin Dysmorphol
|
2011
|
0.83
|
|
13
|
A case of functional growth hormone deficiency and early growth retardation in a child with IFT172 mutations.
|
J Clin Endocrinol Metab
|
2015
|
0.78
|
|
14
|
A novel COL1A1 mutation causing a variant of osteogenesis imperfecta.
|
Clin Dysmorphol
|
2017
|
0.75
|