|
1
|
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.
|
Blood
|
2011
|
2.29
|
|
2
|
EXCAVATOR: detecting copy number variants from whole-exome sequencing data.
|
Genome Biol
|
2013
|
1.90
|
|
3
|
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report.
|
Genet Med
|
2011
|
1.62
|
|
4
|
A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.
|
Eur J Pediatr
|
2009
|
1.38
|
|
5
|
The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population.
|
Eur J Hum Genet
|
2013
|
1.27
|
|
6
|
Read count approach for DNA copy number variants detection.
|
Bioinformatics
|
2011
|
1.23
|
|
7
|
Estimating the allele frequency of autosomal recessive disorders through mutational records and consanguinity: the Homozygosity Index (HI).
|
Ann Hum Genet
|
2011
|
1.01
|
|
8
|
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype.
|
Dev Med Child Neurol
|
2011
|
0.92
|
|
9
|
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.
|
Eur J Hum Genet
|
2012
|
0.89
|
|
10
|
A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24.
|
Eur J Hum Genet
|
2007
|
0.84
|
|
11
|
SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia.
|
Thromb Haemost
|
2016
|
0.83
|
|
12
|
A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype.
|
Epilepsia
|
2013
|
0.82
|
|
13
|
Autosomal dominant partial epilepsy with auditory features: a new locus on chromosome 19q13.11-q13.31.
|
Epilepsia
|
2014
|
0.77
|