Published in Nat Genet on March 01, 2010
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VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations. Mol Syndromol (2013) 0.94
The use of array-CGH in a cohort of Greek children with developmental delay. Mol Cytogenet (2010) 0.94
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder. Eur J Hum Genet (2012) 0.93
Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay. Case Rep Genet (2012) 0.88
Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification. Eur J Hum Genet (2013) 0.87
Combination of Miller-Dieker syndrome and VACTERL association causes extremely severe clinical presentation. Eur J Pediatr (2013) 0.85
Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs. Eur J Hum Genet (2015) 0.83
Mitochondrial and ion channel gene alterations in autism. Biochim Biophys Acta (2012) 0.83
The interface between genetics and psychology: lessons from developmental dyslexia. Proc Biol Sci (2015) 0.82
Rare copy number variation in cerebral palsy. Eur J Hum Genet (2013) 0.82
An assessment of sex bias in neurodevelopmental disorders. Genome Med (2015) 0.81
Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches. J Obes (2012) 0.79
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders. Amino Acids (2015) 0.78
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Fluorescence in situ hybridization (FISH) using non-commercial probes in the diagnosis of clinically suspected microdeletion syndromes. Indian J Med Res (2013) 0.78
The genetic landscape and clinical implications of vertebral anomalies in VACTERL association. J Med Genet (2016) 0.77
Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders. J Neurosci Res (2016) 0.75
The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents' Experiences. J Genet Couns (2016) 0.75
Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication? Mol Cytogenet (2016) 0.75
Core signaling pathways in human pancreatic cancers revealed by global genomic analyses. Science (2008) 36.02
Epistasis--the essential role of gene interactions in the structure and evolution of genetic systems. Nat Rev Genet (2008) 9.26
Diagnostic genome profiling in mental retardation. Am J Hum Genet (2005) 8.60
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science (1994) 4.86
The modular nature of genetic diseases. Clin Genet (2007) 4.06
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet (2006) 3.26
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet (2010) 1.89
Phenotypic variations on the theme of CNVs. Nat Genet (2008) 1.58
Rho-linked genes and neurological disorders. Pflugers Arch (2007) 1.39
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease. Proc Natl Acad Sci U S A (2009) 1.17
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med (2012) 10.80
Diagnostic genome profiling in mental retardation. Am J Hum Genet (2005) 8.60
A de novo paradigm for mental retardation. Nat Genet (2010) 8.57
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet (2004) 6.90
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet (2006) 6.15
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet (2006) 5.92
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet (2010) 5.72
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet (2003) 5.43
A text-mining analysis of the human phenome. Eur J Hum Genet (2006) 4.98
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet (2006) 4.77
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. Nat Genet (2008) 4.44
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
De novo mutations in human genetic disease. Nat Rev Genet (2012) 3.81
Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet (2012) 3.73
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet (2010) 3.60
Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet (2007) 3.54
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet (2010) 3.47
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet (2010) 3.25
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet (2007) 3.22
STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med (2011) 3.11
High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. Am J Hum Genet (2002) 3.10
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet (2002) 3.09
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
Disease gene identification strategies for exome sequencing. Eur J Hum Genet (2012) 2.89
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet (2002) 2.81
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2011) 2.69
Unlocking Mendelian disease using exome sequencing. Genome Biol (2011) 2.62
Recurrent CNVs disrupt three candidate genes in schizophrenia patients. Am J Hum Genet (2008) 2.61
Massively parallel sequencing of ataxia genes after array-based enrichment. Hum Mutat (2010) 2.60
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet (2012) 2.44
A new web-based data mining tool for the identification of candidate genes for human genetic disorders. Eur J Hum Genet (2003) 2.32
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet (2006) 2.31
Next-generation genetic testing for retinitis pigmentosa. Hum Mutat (2012) 2.30
TLR4 polymorphisms, infectious diseases, and evolutionary pressure during migration of modern humans. Proc Natl Acad Sci U S A (2007) 2.28
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am J Hum Genet (2010) 2.26
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet (2007) 2.16
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
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet (2012) 2.12
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet (2011) 2.09
Clinical significance of de novo and inherited copy-number variation. Hum Mutat (2013) 2.08
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat (2013) 2.07
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. Invest Ophthalmol Vis Sci (2010) 1.98
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet (2011) 1.98
Computational disease gene identification: a concert of methods prioritizes type 2 diabetes and obesity candidate genes. Nucleic Acids Res (2006) 1.95
WNT5A mutations in patients with autosomal dominant Robinow syndrome. Dev Dyn (2010) 1.91
The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data. Brain Imaging Behav (2014) 1.90
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet (2012) 1.90
Identification of disease genes by whole genome CGH arrays. Hum Mol Genet (2005) 1.85
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Hum Mol Genet (2009) 1.84
Array-based comparative genomic hybridization for the differential diagnosis of renal cell cancer. Cancer Res (2002) 1.84
Phenome connections. Trends Genet (2008) 1.84
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet (2009) 1.83
Pathogenesis of split-hand/split-foot malformation. Hum Mol Genet (2003) 1.83
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet (2002) 1.80
Mutations in different components of FGF signaling in LADD syndrome. Nat Genet (2006) 1.76
Accurate distinction of pathogenic from benign CNVs in mental retardation. PLoS Comput Biol (2010) 1.75
Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Hum Mutat (2009) 1.71
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet (2012) 1.70
De novo copy number variants associated with intellectual disability have a paternal origin and age bias. J Med Genet (2011) 1.69
Splitting p63. Am J Hum Genet (2002) 1.62
Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map. Am J Med Genet A (2007) 1.62
Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis. J Med Genet (2009) 1.62
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. J Med Genet (2011) 1.58
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am J Hum Genet (2006) 1.56
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. Invest Ophthalmol Vis Sci (2007) 1.54
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Hum Genet (2007) 1.51
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. J Med Genet (2012) 1.51
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. Am J Hum Genet (2012) 1.51
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. Am J Hum Genet (2012) 1.49
Genome-wide array-based comparative genomic hybridization reveals multiple amplification targets and novel homozygous deletions in pancreatic carcinoma cell lines. Cancer Res (2004) 1.49