|
1
|
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
|
Nat Genet
|
2011
|
2.09
|
|
2
|
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.
|
Am J Hum Genet
|
2007
|
2.07
|
|
3
|
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
|
|
4
|
Dominant missense mutations in ABCC9 cause Cantú syndrome.
|
Nat Genet
|
2012
|
1.50
|
|
5
|
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.
|
J Med Genet
|
2013
|
1.39
|
|
6
|
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.
|
Hum Mol Genet
|
2007
|
1.36
|
|
7
|
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
|
Eur J Hum Genet
|
2010
|
1.27
|
|
8
|
Schimke immunoosseous dysplasia: suggestions of genetic diversity.
|
Hum Mutat
|
2007
|
1.19
|
|
9
|
Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.
|
Am J Hum Genet
|
2008
|
1.18
|
|
10
|
Schimke immunoosseous dysplasia: defining skeletal features.
|
Eur J Pediatr
|
2009
|
0.95
|
|
11
|
Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome).
|
BMC Pediatr
|
2012
|
0.92
|
|
12
|
Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH.
|
Am J Med Genet A
|
2010
|
0.89
|
|
13
|
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
|
Am J Med Genet C Semin Med Genet
|
2012
|
0.84
|
|
14
|
A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene.
|
Clin Dysmorphol
|
2006
|
0.80
|
|
15
|
Pneumothorax in two siblings: is there a genetic basis for recurrence?
|
J Thorac Cardiovasc Surg
|
2008
|
0.77
|