Published in Hum Genomics on January 01, 2004
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet (2006) 3.29
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet (2005) 1.55
UvrD helicase suppresses recombination and DNA damage-induced deletions. J Bacteriol (2006) 0.96
Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion. PLoS One (2011) 0.92
Frequent loss of genome gap region in 4p16.3 subtelomere in early-onset type 2 diabetes mellitus. Exp Diabetes Res (2011) 0.83
Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter. Mol Cytogenet (2013) 0.76
High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet (1998) 21.52
Recent segmental duplications in the human genome. Science (2002) 21.30
Segmental duplications: organization and impact within the current human genome project assembly. Genome Res (2001) 11.77
Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. Genes Chromosomes Cancer (1997) 8.27
High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiatry (1999) 5.54
Comparison of human genetic and sequence-based physical maps. Nature (2001) 4.97
DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones. Genes Chromosomes Cancer (2003) 4.68
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet (2001) 4.58
Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet (1999) 4.20
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet (2000) 3.80
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet (2001) 3.57
A highly significant association between a COMT haplotype and schizophrenia. Am J Hum Genet (2002) 3.52
A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet (1996) 3.45
Structure of chromosomal duplicons and their role in mediating human genomic disorders. Genome Res (2000) 3.30
Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats. Nat Genet (1997) 3.30
High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. Am J Hum Genet (2002) 3.10
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J Hum Genet (2002) 3.09
Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet (2003) 3.01
Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet (2002) 2.96
Mutations in RAI1 associated with Smith-Magenis syndrome. Nat Genet (2003) 2.75
Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet (2003) 2.69
Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13). Hum Mol Genet (1999) 2.62
Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet (2003) 2.59
LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell (1996) 2.44
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. Hum Mol Genet (2003) 2.25
Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. J Med Genet (1997) 2.20
Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Am J Hum Genet (1998) 2.09
High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions. Hum Mol Genet (1998) 1.98
Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia. Proc Natl Acad Sci U S A (2002) 1.92
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
Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. Am J Hum Genet (2002) 1.86
Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis. Hum Mol Genet (1993) 1.82
High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH. Hum Mol Genet (2001) 1.79
VEGF: a modifier of the del22q11 (DiGeorge) syndrome? Nat Med (2003) 1.79
The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. Genome Res (2001) 1.72
Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. Genome Res (2002) 1.70
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am J Hum Genet (2002) 1.65
7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. Am J Hum Genet (1996) 1.64
Elevated risk for MPNST in NF1 microdeletion patients. Am J Hum Genet (2003) 1.62
Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. Am J Hum Genet (1999) 1.62
Recombination hotspot in NF1 microdeletion patients. Hum Mol Genet (2001) 1.61
Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients. Am J Hum Genet (1994) 1.56
Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH. Am J Hum Genet (2003) 1.52
Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. Hum Mol Genet (1996) 1.50
Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review. Genet Med (2001) 1.49
Minimal sizes of deletions detected by comparative genomic hybridization. Genes Chromosomes Cancer (1998) 1.42
Unequal meiotic crossover: a frequent cause of NF1 microdeletions. Am J Hum Genet (2000) 1.40
PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. Hum Mol Genet (2002) 1.36
Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis. Hum Mol Genet (1997) 1.31
2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture. Am J Hum Genet (2003) 1.31
Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients. Hum Genet (1996) 1.31
High resolution comparative genomic hybridisation in clinical cytogenetics. J Med Genet (2001) 1.29
Williams syndrome: from genotype through to the cognitive phenotype. Am J Med Genet (2000) 1.28
Velo-cardio-facial syndrome: a model for understanding the genetics and pathogenesis of schizophrenia. Br J Psychiatry (2001) 1.25
Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2). Am J Med Genet (1998) 1.24
Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot. Hum Mol Genet (1996) 1.23
Crossover breakpoint mapping identifies a subtelomeric hotspot for male meiotic recombination. Hum Mol Genet (2000) 1.22
Sex-specific meiotic recombination in the Prader--Willi/Angelman syndrome imprinted region. Hum Mol Genet (1995) 1.17
Sex-dependent rearrangements resulting in CMT1A and HNPP. Nat Genet (1997) 1.15
Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions. Hum Mutat (1999) 1.13
Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome. J Biol Chem (1996) 1.10
Characterisation of interstitial duplications and triplications of chromosome 15q11-q13. Hum Genet (2002) 1.06
Angelman syndrome: correlations between epilepsy phenotypes and genotypes. Ann Neurol (1998) 1.04
Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions. J Med Genet (2003) 1.00
22q11 deletion in DGS/VCFS monozygotic twins with discordant phenotypes. Genet Couns (1999) 0.99
A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8. Am J Med Genet (1997) 0.93
No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome. Eur J Hum Genet (2003) 0.92
Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event. J Med Genet (2003) 0.89
Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome. Am J Hum Genet (2003) 0.88
Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene. Am J Med Genet A (2003) 0.86
Prader-Willi syndrome and psychoses. Br J Psychiatry (1993) 0.84
Phenotypic heterogeneity of growth and psychometric intelligence in Prader-Willi syndrome: variable expression of a contiguous gene syndrome or parent-child resemblance? Am J Med Genet (2000) 0.83
Behavioral phenotypes in genetic syndromes: genetic clues to human behavior. Adv Pediatr (2002) 0.83
Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A. Am J Hum Genet (1997) 0.82
The Prader-Willi syndrome: a self supporting program for children, youngsters and adults. Genet Couns (1994) 0.76
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet (2010) 13.70
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Chromosome instability is common in human cleavage-stage embryos. Nat Med (2009) 3.85
Mosaic copy number variation in human neurons. Science (2013) 3.57
Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur Heart J (2007) 2.39
Skeletal muscle repair by adult human mesenchymal stem cells from synovial membrane. J Cell Biol (2003) 1.99
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes. Hum Mutat (2007) 1.79
Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome. Am J Hum Genet (2005) 1.78
Single-cell chromosomal imbalances detection by array CGH. Nucleic Acids Res (2006) 1.78
Single-cell paired-end genome sequencing reveals structural variation per cell cycle. Nucleic Acids Res (2013) 1.77
Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients. Hum Mol Genet (2006) 1.68
eXtasy: variant prioritization by genomic data fusion. Nat Methods (2013) 1.48
SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles. Hum Mol Genet (2010) 1.38
Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions. Eur J Hum Genet (2008) 1.36
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS. J Med Genet (2012) 1.33
The C20orf133 gene is disrupted in a patient with Kabuki syndrome. J Med Genet (2007) 1.28
Preimplantation genetic screening for aneuploidy of embryos after in vitro fertilization in women aged at least 35 years: a prospective randomized trial. Fertil Steril (2009) 1.12
Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryos. Hum Mutat (2011) 1.12
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies. Eur J Hum Genet (2011) 1.11
The causality of de novo copy number variants is overestimated. Eur J Hum Genet (2011) 1.10
Valproic acid confers functional pluripotency to human amniotic fluid stem cells in a transgene-free approach. Mol Ther (2012) 1.10
What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate. Hum Reprod (2009) 1.08
The introduction of arrays in prenatal diagnosis: a special challenge. Hum Mutat (2012) 1.07
Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism. Eur J Hum Genet (2007) 1.06
Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms. Eur J Hum Genet (2011) 1.03
Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations. Genome Res (2012) 0.98
Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallel pyrosequencing. J Mol Diagn (2012) 0.97
Recent developments in the genetic factors underlying congenital diaphragmatic hernia. Fetal Diagn Ther (2010) 0.97
Interstitial 6q deletion: clinical and array CGH characterisation of a new patient. Eur J Med Genet (2005) 0.97
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes. Am J Hum Genet (2013) 0.96
Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome. Eur J Med Genet (2009) 0.96
Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13. Eur J Med Genet (2005) 0.96
Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1. Am J Med Genet A (2012) 0.95
Left-ventricular non-compaction in a patient with monosomy 1p36. Eur J Med Genet (2007) 0.92
FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation. Hum Mol Genet (2011) 0.92
No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome. Eur J Hum Genet (2003) 0.92
FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish. Am J Hum Genet (2011) 0.92
Single-cell copy number variation detection. Genome Biol (2011) 0.91
Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH). Prenat Diagn (2010) 0.91
A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome. Am J Med Genet A (2012) 0.91
A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion. Eur J Hum Genet (2009) 0.89
Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism. Eur J Hum Genet (2008) 0.88
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. J Med Genet (2009) 0.88
Array comparative genomic hybridization and computational genome annotation in constitutional cytogenetics: suggesting candidate genes for novel submicroscopic chromosomal imbalance syndromes. Genet Med (2007) 0.88
Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay. Eur J Med Genet (2010) 0.87
Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions. Hum Mutat (2010) 0.85
Genomic microarrays: a technology overview. Prenat Diagn (2012) 0.85
TGF-beta1-induced cardiac myofibroblasts are nonproliferating functional cells carrying DNA damages. Exp Cell Res (2008) 0.85
What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH). Eur J Pediatr (2007) 0.84
Chromosome 5 derived small supernumerary marker: towards a genotype/phenotype correlation of proximal chromosome 5 imbalances. J Appl Genet (2011) 0.84
An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses. Am J Med Genet A (2007) 0.84
Variability in expression of a familial 2.79 Mb microdeletion in chromosome 14q22.1-22.2. Am J Med Genet A (2012) 0.83
A dysmorphic boy with 4qter deletion and 4q32.3-34.3 duplication: clinical, cytogenetic, and molecular findings. Am J Med Genet A (2004) 0.83
Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome. Eur J Med Genet (2010) 0.83
25 Mb deletion of 13q13.3-->q21.31 in a patient without retinoblastoma. Eur J Med Genet (2005) 0.82
Complete sex reversal in a WAGR syndrome patient. Am J Med Genet A (2007) 0.82
Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome. Eur J Med Genet (2009) 0.82
LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition. Dis Model Mech (2014) 0.81
BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome. Eur J Med Genet (2011) 0.81
Somatic genomic variations in early human prenatal development. Curr Genomics (2010) 0.81
A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications. Eur J Med Genet (2008) 0.78
Array-based approaches in prenatal diagnosis. Methods Mol Biol (2012) 0.77
Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1. Eur J Med Genet (2009) 0.77
A male with two idic(Y)(q12) chromosomes: a distinct phenotype resembling the XXXY/XXXXY syndrome. Am J Med Genet A (2005) 0.77
A microduplication of CBP in a patient with mental retardation and a congenital heart defect. Am J Med Genet A (2007) 0.76
The C20orf133 gene is disrupted in a patient with Kabuki syndrome. BMJ Case Rep (2009) 0.75
Direct fluorescent labelling of clones by DOP PCR. Mol Cytogenet (2008) 0.75
Complex MCA/MR syndrome associated with interstitial deletion of the long arm of chromosome 6, del(6)(q25.1-->q27). Am J Med Genet A (2003) 0.75
Clinical and molecular-cytogenetic studies of cryptic chromosome aberrations in individuals with idiopathic mental retardation and multiple congenital malformations. Folia Med (Plovdiv) (2009) 0.75
Reciprocal 22q11.2 Deletion and Duplication in Siblings with Karyotypically Normal Parents. Cytogenet Genome Res (2016) 0.75
Submicroscopic distal deletion of the long arm of chromosome 13(13q34) with corpus callosum agenesis. Am J Med Genet A (2009) 0.75
Post-zygotic origin of isochromosome 12p. Prenat Diagn (2004) 0.75
Congenital nasal piriform aperture stenosis as a rare manifestation of monosomy 1p36. Clin Dysmorphol (2010) 0.75