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1
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Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
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Nat Genet
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2003
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3.23
|
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2
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Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
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Nat Genet
|
2012
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2.80
|
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3
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Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.
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Circulation
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2006
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2.41
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4
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Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
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Am J Hum Genet
|
2005
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2.40
|
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5
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De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
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Nat Genet
|
2011
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2.09
|
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6
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Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
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Nat Genet
|
2005
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1.98
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7
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Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.
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Am J Hum Genet
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2011
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1.77
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8
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Dysmorphology of Barth syndrome.
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Clin Dysmorphol
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2009
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1.56
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9
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A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum.
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Am J Med Genet A
|
2013
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1.38
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10
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Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays.
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Nucleic Acids Res
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2004
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1.37
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11
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Barth syndrome.
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Orphanet J Rare Dis
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2013
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1.33
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12
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Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes.
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Eur J Hum Genet
|
2004
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1.31
|
|
13
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Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.
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Hum Mutat
|
2008
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1.21
|
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14
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Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.
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Am J Med Genet A
|
2006
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1.20
|
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15
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Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.
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Nat Genet
|
2013
|
1.18
|
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16
|
Supernumerary intestinal muscle coat in a patient with Hirschsprung disease/Mowat-Wilson syndrome.
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Pediatr Dev Pathol
|
2010
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1.04
|
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17
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Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.
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Eur J Hum Genet
|
2011
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0.95
|
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18
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New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.
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Curr Opin Genet Dev
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2013
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0.92
|
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19
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Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.
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Eur J Hum Genet
|
2002
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0.92
|
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20
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Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.
|
J Hum Genet
|
2004
|
0.91
|
|
21
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Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.
|
Hum Genet
|
2008
|
0.90
|
|
22
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Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.
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Eur J Hum Genet
|
2012
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0.89
|
|
23
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The face of Ulnar Mammary syndrome?
|
Eur J Med Genet
|
2011
|
0.87
|
|
24
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'Medicine's next goldmine?' The implications of new genetic health technologies for the health service.
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Med Health Care Philos
|
2006
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0.84
|
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25
|
A case of probable Bohring-Opitz syndrome with medulloblastoma.
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Clin Dysmorphol
|
2010
|
0.84
|
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26
|
Constitutional trisomy 8 and Behçet syndrome.
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Am J Med Genet A
|
2009
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0.82
|
|
27
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Pseudotail as a feature of microphthalmia with linear skin defects syndrome.
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Clin Dysmorphol
|
2011
|
0.79
|
|
28
|
A further patient with Noonan syndrome due to a SOS1 mutation and rhabdomyosarcoma.
|
Genes Chromosomes Cancer
|
2010
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0.76
|
|
29
|
What is Barth syndrome?
|
Midwives
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2011
|
0.76
|
|
30
|
Primary lymphedema with coarctation of the aorta: possible new syndrome or variant of Irons-Bianchi syndrome?
|
Am J Med Genet A
|
2011
|
0.75
|
|
31
|
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.
|
Clin Dysmorphol
|
2016
|
0.75
|