Published in Prenat Diagn on April 01, 2012
Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies. Prenat Diagn (2012) 1.54
Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound. Prenat Diagn (2012) 1.21
Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities. Eur J Hum Genet (2012) 1.03
The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature. Prenat Diagn (2013) 0.94
Counseling Challenges with Variants of Uncertain Significance and Incidental Findings in Prenatal Genetic Screening and Diagnosis. J Clin Med (2014) 0.78
Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study. Genet Med (2016) 0.77
Prenatal Diagnosis of Chromosome Abnormalities: A 13-Year Institution Experience. Diagnostics (Basel) (2012) 0.75
Chromosomal Microarrays in Prenatal Diagnosis: Time for a Change of Policy? Microarrays (Basel) (2013) 0.75
The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing. J Clin Med (2014) 0.75
Prenatal and pre-implantation genetic diagnosis. Nat Rev Genet (2016) 0.75
Recent advances in prenatal genetic screening and testing. F1000Res (2016) 0.75
The complete genome of an individual by massively parallel DNA sequencing. Nature (2008) 52.81
Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med (2013) 15.85
Genome architecture, rearrangements and genomic disorders. Trends Genet (2002) 12.26
MeCP2, a key contributor to neurological disease, activates and represses transcription. Science (2008) 10.11
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell (2007) 9.81
Mechanisms of change in gene copy number. Nat Rev Genet (2009) 9.01
A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell (2006) 8.61
Structural variation in the human genome and its role in disease. Annu Rev Med (2010) 7.85
Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet (2009) 7.64
A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet (2009) 6.39
Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med (2012) 4.97
Implementing genomic medicine in the clinic: the future is here. Genet Med (2013) 4.89
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet (2008) 4.87
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet (2005) 4.76
Mechanisms for human genomic rearrangements. Pathogenetics (2008) 4.54
Whole-genome sequencing for optimized patient management. Sci Transl Med (2011) 4.51
Molecular mechanisms for genomic disorders. Annu Rev Genomics Hum Genet (2002) 4.51
Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet (2004) 4.47
Completing the map of human genetic variation. Nature (2007) 4.38
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med (2014) 4.00
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature (2007) 3.91
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet (2009) 3.81
Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet (2006) 3.80
Human genome sequencing in health and disease. Annu Rev Med (2012) 3.76
Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron (2006) 3.65
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One (2007) 3.53
Microbial DNA typing by automated repetitive-sequence-based PCR. J Clin Microbiol (2005) 3.44
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet (2009) 3.42
Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med (2005) 3.39
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet (2009) 3.33
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet (2007) 3.26
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A (2012) 3.12
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell (2011) 3.03
Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1. Nature (2005) 2.98
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet (2004) 2.94
Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet (2007) 2.94
Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat (2010) 2.93
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet (2002) 2.91
An accurate, sensitive, and scalable method to identify functional sites in protein structures. J Mol Biol (2003) 2.87
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet (2004) 2.84
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet (2004) 2.82
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med (2006) 2.78
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain (2006) 2.77
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet (2008) 2.71
Mechanisms for recurrent and complex human genomic rearrangements. Curr Opin Genet Dev (2012) 2.67
Complex human chromosomal and genomic rearrangements. Trends Genet (2009) 2.66
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet (2002) 2.64
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet (2012) 2.63
Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet (2003) 2.59
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet (2009) 2.50
Increased LIS1 expression affects human and mouse brain development. Nat Genet (2009) 2.45
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet (2005) 2.40
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet (2003) 2.37
Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses. Genet Med (2008) 2.36
Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect. Ann Neurol (2006) 2.25
Genome structural variation and sporadic disease traits. Nat Genet (2006) 2.23
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet (2005) 2.22
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet (2003) 2.15
Proinflammatory role for let-7 microRNAS in experimental asthma. J Biol Chem (2010) 2.08
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann Neurol (2009) 2.07
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Am J Hum Genet (2003) 2.04
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet (2009) 2.02
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics (2008) 2.00
The nicotinic acetylcholine receptor subunit alpha 5 mediates short-term effects of nicotine in vivo. Mol Pharmacol (2003) 2.00
A metagenomic approach to characterization of the vaginal microbiome signature in pregnancy. PLoS One (2012) 1.98
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med (2007) 1.98
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. Nat Genet (2009) 1.98
Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua. Science (2011) 1.96
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet (2010) 1.96
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet (2011) 1.93
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Res (2002) 1.91
Molecular-evolutionary mechanisms for genomic disorders. Curr Opin Genet Dev (2002) 1.90
A transcriptional profile of multicellular development in Dictyostelium discoideum. Development (2002) 1.88