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1
|
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
|
Nat Genet
|
2004
|
5.19
|
|
2
|
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
|
Nature
|
2011
|
2.59
|
|
3
|
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).
|
Am J Hum Genet
|
2007
|
2.22
|
|
4
|
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.
|
Eur J Hum Genet
|
2008
|
1.90
|
|
5
|
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
|
Nat Genet
|
2012
|
1.70
|
|
6
|
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster.
|
Genome Res
|
2014
|
1.63
|
|
7
|
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report.
|
Genet Med
|
2011
|
1.62
|
|
8
|
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.
|
PLoS Genet
|
2011
|
1.60
|
|
9
|
Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.
|
Am J Hum Genet
|
2003
|
1.59
|
|
10
|
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.
|
J Med Genet
|
2013
|
1.50
|
|
11
|
Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis.
|
Am J Med Genet A
|
2006
|
1.23
|
|
12
|
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
|
Am J Med Genet B Neuropsychiatr Genet
|
2013
|
1.13
|
|
13
|
Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.
|
Am J Hum Genet
|
2006
|
1.12
|
|
14
|
Nicolaides-Baraitser syndrome: Delineation of the phenotype.
|
Am J Med Genet A
|
2009
|
1.11
|
|
15
|
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
|
Hum Mutat
|
2014
|
1.08
|
|
16
|
Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome.
|
Am J Med Genet A
|
2004
|
0.96
|
|
17
|
Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome.
|
Hum Mutat
|
2006
|
0.93
|
|
18
|
Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes.
|
Hum Mutat
|
2009
|
0.92
|
|
19
|
A de novo 1.1-1.6 Mb subtelomeric deletion of chromosome 20q13.33 in a patient with learning difficulties but without obvious dysmorphic features.
|
Am J Med Genet A
|
2007
|
0.91
|
|
20
|
Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.
|
Hum Mutat
|
2012
|
0.88
|
|
21
|
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.
|
J Med Genet
|
2009
|
0.88
|
|
22
|
Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report.
|
J Neurosurg
|
2007
|
0.87
|
|
23
|
MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother.
|
Brain Dev
|
2006
|
0.84
|
|
24
|
Prenatal diagnostic indicators of paternal uniparental disomy 14.
|
Prenat Diagn
|
2006
|
0.84
|
|
25
|
Alexander disease: early presence of cerebral MRI criteria.
|
Eur J Paediatr Neurol
|
2009
|
0.83
|
|
26
|
Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients.
|
Am J Med Genet A
|
2008
|
0.82
|
|
27
|
Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotype.
|
J Pediatr Orthop
|
2007
|
0.81
|
|
28
|
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.
|
Am J Med Genet A
|
2012
|
0.77
|
|
29
|
Expanding the phenotype of fragile X-associated tremor/ataxia syndrome: a new female case.
|
Mov Disord
|
2007
|
0.77
|
|
30
|
No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome.
|
Am J Med Genet A
|
2006
|
0.77
|
|
31
|
Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?
|
Eur J Med Genet
|
2011
|
0.76
|
|
32
|
Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome.
|
Ophthalmology
|
2012
|
0.75
|
|
33
|
Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation.
|
Eur J Pediatr
|
2011
|
0.75
|
|
34
|
Proteus syndrome revealing itself after the treatment of a bilateral subdural haematoma.
|
Childs Nerv Syst
|
2013
|
0.75
|
|
35
|
[How should a muscular disease be studied?].
|
Rev Med Suisse Romande
|
2003
|
0.75
|