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1
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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
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Nature
|
2011
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2.59
|
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2
|
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
|
|
3
|
Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21.
|
EMBO Mol Med
|
2013
|
1.30
|
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4
|
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.
|
Orphanet J Rare Dis
|
2009
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1.20
|
|
5
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Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
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Hum Mutat
|
2014
|
1.08
|
|
6
|
Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events.
|
Am J Med Genet A
|
2008
|
0.96
|
|
7
|
Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children.
|
Orphanet J Rare Dis
|
2011
|
0.96
|
|
8
|
A teratocarcinoma-like human embryonic stem cell (hESC) line and four hESC lines reveal potentially oncogenic genomic changes.
|
PLoS One
|
2010
|
0.95
|
|
9
|
Developmental expression and organisation of fibrinogen genes in the zebrafish.
|
Thromb Haemost
|
2011
|
0.93
|
|
10
|
Initiation of a medical genetics service in sub-Saharan Africa: experience of prenatal diagnosis in Cameroon.
|
Eur J Med Genet
|
2011
|
0.92
|
|
11
|
Ataxia telangiectasia mutated (ATM) inhibition transforms human mammary gland epithelial cells.
|
J Biol Chem
|
2010
|
0.89
|
|
12
|
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.
|
J Med Genet
|
2009
|
0.88
|
|
13
|
Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB.
|
Hum Mutat
|
2012
|
0.88
|
|
14
|
Cellular diversity within embryonic stem cells: pluripotent clonal sublines show distinct differentiation potential.
|
J Cell Mol Med
|
2012
|
0.86
|
|
15
|
Reshuffling genomic landscapes to study the regulatory evolution of Hox gene clusters.
|
Proc Natl Acad Sci U S A
|
2011
|
0.82
|
|
16
|
Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients.
|
Am J Med Genet A
|
2008
|
0.82
|
|
17
|
Aluminium chloride promotes anchorage-independent growth in human mammary epithelial cells.
|
J Appl Toxicol
|
2012
|
0.80
|
|
18
|
Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms.
|
Eur J Med Genet
|
2008
|
0.78
|
|
19
|
A novel SRY mutation leads to asymmetric SOX9 activation and is responsible for mixed 46,XY gonadal dysgenesis.
|
Horm Res Paediatr
|
2012
|
0.77
|
|
20
|
Mild intellectual disability associated with a progeny of father-daughter incest: genetic and environmental considerations.
|
J Child Sex Abus
|
2010
|
0.77
|
|
21
|
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
|
|
22
|
Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele.
|
J Med Genet
|
2012
|
0.75
|
|
23
|
Initiation of prenatal genetic diagnosis of chromosomal anomalies in Cameroon.
|
Int J Gynaecol Obstet
|
2011
|
0.75
|
|
24
|
Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation.
|
Am J Med Genet A
|
2010
|
0.75
|
|
25
|
Recurrent microdeletion 2q21.1: report on a new patient with neurological disorders.
|
Am J Med Genet A
|
2013
|
0.75
|
|
26
|
Large-scale phagemid conversion on solid medium.
|
Biotechniques
|
2003
|
0.75
|
|
27
|
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis.
|
Sex Dev
|
2015
|
0.75
|