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1
|
Familial diarrhea syndrome caused by an activating GUCY2C mutation.
|
N Engl J Med
|
2012
|
2.04
|
|
2
|
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
|
Am J Hum Genet
|
2011
|
1.98
|
|
3
|
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
|
Am J Hum Genet
|
2010
|
1.95
|
|
4
|
Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.
|
Invest Ophthalmol Vis Sci
|
2005
|
1.44
|
|
5
|
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.
|
Orphanet J Rare Dis
|
2013
|
1.16
|
|
6
|
Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene.
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Am J Hum Genet
|
2002
|
1.14
|
|
7
|
A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy.
|
Am J Ophthalmol
|
2006
|
1.11
|
|
8
|
Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient.
|
Proc Natl Acad Sci U S A
|
2006
|
1.05
|
|
9
|
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
|
Orphanet J Rare Dis
|
2014
|
0.94
|
|
10
|
A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.
|
Invest Ophthalmol Vis Sci
|
2010
|
0.93
|
|
11
|
Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
|
PLoS One
|
2013
|
0.91
|
|
12
|
Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies.
|
Clin Chem
|
2009
|
0.90
|
|
13
|
Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene.
|
Invest Ophthalmol Vis Sci
|
2009
|
0.90
|
|
14
|
Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.
|
Am J Ophthalmol
|
2013
|
0.86
|
|
15
|
Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation.
|
Am J Med Genet A
|
2010
|
0.80
|
|
16
|
Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping.
|
J Mol Diagn
|
2009
|
0.79
|
|
17
|
Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense mutation in the CRLF1 gene.
|
Brain Dev
|
2012
|
0.78
|
|
18
|
Co-occurrence of vitamin D-dependent rickets type 1 and phenylketonuria.
|
Acta Paediatr
|
2008
|
0.78
|
|
19
|
Lack of meiotic crossovers during oogenesis in an apparent 45,X Ullrich-Turner syndrome patient with three children.
|
Am J Med Genet A
|
2006
|
0.78
|
|
20
|
Retarded bone growth in thyroid hormone resistance. A clinical study of a large family with a novel thyroid hormone receptor mutation.
|
Eur J Endocrinol
|
2004
|
0.77
|
|
21
|
Clinical manifestation of a novel PAX6 mutation Arg128Pro.
|
Arch Ophthalmol
|
2008
|
0.77
|
|
22
|
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
|
Am J Hum Genet
|
2017
|
0.75
|