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1
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Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
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Nat Genet
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2003
|
4.34
|
|
2
|
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.
|
Nat Genet
|
2010
|
3.60
|
|
3
|
Allogeneic bone marrow transplantation: cure for familial Mediterranean fever.
|
Blood
|
2002
|
2.15
|
|
4
|
Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.
|
PLoS Genet
|
2010
|
2.14
|
|
5
|
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.
|
Nat Genet
|
2012
|
2.12
|
|
6
|
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
|
Nat Genet
|
2012
|
1.70
|
|
7
|
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.
|
Am J Hum Genet
|
2012
|
1.65
|
|
8
|
Generalized arterial calcification of infancy: treatment with bisphosphonates.
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Nat Clin Pract Endocrinol Metab
|
2009
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1.43
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|
9
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Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome.
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J Craniofac Surg
|
2007
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1.40
|
|
10
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Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.
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Hum Mol Genet
|
2013
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1.36
|
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11
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Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
|
Hum Mutat
|
2013
|
1.17
|
|
12
|
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.
|
PLoS Genet
|
2011
|
1.13
|
|
13
|
SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.
|
Hum Mol Genet
|
2009
|
1.05
|
|
14
|
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).
|
Am J Med Genet A
|
2012
|
1.02
|
|
15
|
Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.
|
Hum Mutat
|
2009
|
0.98
|
|
16
|
Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1.
|
FEBS Lett
|
2012
|
0.91
|
|
17
|
Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.
|
Am J Med Genet A
|
2003
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0.89
|
|
18
|
A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.
|
J Med Genet
|
2013
|
0.88
|
|
19
|
A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype.
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Clin Dysmorphol
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2006
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0.86
|
|
20
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Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome.
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J Allergy Clin Immunol
|
2012
|
0.82
|
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21
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Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.
|
Am J Med Genet A
|
2008
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0.81
|
|
22
|
Genomic approaches for studying craniofacial disorders.
|
Am J Med Genet C Semin Med Genet
|
2013
|
0.80
|
|
23
|
Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis.
|
J Craniofac Surg
|
2007
|
0.80
|
|
24
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Analysis of intracranial volume in apert syndrome genotypes.
|
Pediatr Neurosurg
|
2004
|
0.80
|
|
25
|
Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation.
|
Clin Dysmorphol
|
2008
|
0.80
|
|
26
|
Lambdoid synostosis and craniofacial dysmorphism with normal intellect: A novel syndrome?
|
Am J Med Genet A
|
2011
|
0.79
|
|
27
|
B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement.
|
J Pediatr
|
2011
|
0.78
|
|
28
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The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110.
|
Prenat Diagn
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2007
|
0.77
|
|
29
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Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.
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Genes Chromosomes Cancer
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2009
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0.77
|
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30
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Hepatic veno-occlusive disease with immunodeficiency (VODI): first reported case in the U.S. and identification of a unique mutation in Sp110.
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Clin Immunol
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2012
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0.76
|
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31
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The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation.
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Australas J Dermatol
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2006
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0.75
|
|
32
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The role of hematopoietic stem cell transplantation in SP110 associated veno-occlusive disease with immunodeficiency syndrome.
|
Pediatr Allergy Immunol
|
2013
|
0.75
|