Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation

The Human Genome Browser at UCSC

2002 • 9,920 citations

<tt>BLAT</tt>—The <tt>BLAST</tt>-Like Alignment Tool

2002 • 8,153 citations

Base-Calling of Automated Sequencer Traces UsingPhred. I. Accuracy Assessment

1998 • 6,925 citations

Base-Calling of Automated Sequencer Traces Using Phred. II. Error Probabilities

1998 • 5,382 citations

Detection of large-scale variation in the human genome

2004 • 2,876 citations

Large-Scale Copy Number Polymorphism in the Human Genome

2004 • 2,542 citations

Structural variation in the human genome

2006 • 1,980 citations

22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features

2015 • 1,875 citations

A SEX-CHROMOSOME ANOMALY IN A CASE OF GONADAL DYSGENESIS (TURNER'S SYNDROME)

1959 • 1,360 citations

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

2004 • 1,169 citations

A Case of Human Intersexuality Having a Possible XXY Sex-Determining Mechanism

1959 • 1,057 citations

Fine-scale structural variation of the human genome

2005 • 1,001 citations

Segmental Duplications and Copy-Number Variation in the Human Genome

2005 • 955 citations

Genome architecture, rearrangements and genomic disorders

2002 • 906 citations

Disability in America: toward a national agenda for prevention

1992 • 862 citations

[Study of somatic chromosomes from 9 mongoloid children].

1959 • 809 citations

Common deletion polymorphisms in the human genome

2005 • 722 citations

A high-resolution survey of deletion polymorphism in the human genome

2005 • 664 citations

A Robust Algorithm for Copy Number Detection Using High-Density Oligonucleotide Single Nucleotide Polymorphism Genotyping Arrays

2005 • 651 citations

The epidemiology of mental retardation: Challenges and opportunities in the new millennium

2002 • 610 citations

Large-scale genotyping of complex DNA

2003 • 577 citations

Diagnostic Genome Profiling in Mental Retardation

2005 • 567 citations

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2004 • 558 citations

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

2004 • 509 citations

Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities

2003 • 479 citations

The prevalence of mental retardation: a critical review of recent literature

1997 • 457 citations

High-Resolution Analysis of DNA Copy Number Using Oligonucleotide Microarrays

2004 • 398 citations

Common deletions and SNPs are in linkage disequilibrium in the human genome

2005 • 388 citations

Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation

2006 • 383 citations

APPLICATIONS OF DNA MICROARRAYS IN BIOLOGY

2005 • 382 citations

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

2006 • 381 citations

Disability in America. Toward a national agenda for prevention

1992 • 339 citations

Structural variants: changing the landscape of chromosomes and design of disease studies

2006 • 286 citations

Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness

2004 • 276 citations

Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH)

2005 • 208 citations

Williams-Beuren syndrome: a challenge for genotype-phenotype correlations

2003 • 182 citations

Identification of disease genes by whole genome CGH arrays

2005 • 164 citations

Molecular karyotyping using an SNP array for genomewide genotyping

2004 • 120 citations

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication

2004 • 109 citations

High-Resolution Identification of Chromosomal Abnormalities Using Oligonucleotide Arrays Containing 116,204 SNPs

2005 • 109 citations

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

2000 • 107 citations

Submicroscopic deletions and duplications in individuals with intellectual disability detected by array‐CGH

2005 • 107 citations

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

2005 • 100 citations

Advances in molecular cytogenetics for the evaluation of mental retardation

2003 • 83 citations

BAC array CGH reveals genomic aberrations in idiopathic mental retardation

2006 • 67 citations

A rapid microarray based whole genome analysis for detection of uniparental disomy

2005 • 55 citations

Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene

2003 • 47 citations

Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays

2006 • 46 citations

Global analysis of uniparental disomy using high density genotyping arrays

2005 • 43 citations

Coverage and Characteristics of the Affymetrix GeneChip Human Mapping 100K SNP Set

2006 • 42 citations

Trisomy 9 syndrome: Report of a case with Crohn disease and review of the literature

1995 • 42 citations

Three novel mutations responsible for Cockayne syndrome group A.

2003 • 39 citations

High-Throughput BAC Fingerprinting

2004 • 37 citations

The Neuropsychiatry and Multisystem Features of the Smith-Magenis Syndrome: A Review

2005 • 36 citations

Mosaic vs. nonmosaic trisomy 9: Report of a liveborn infant evaluated by fluorescence in situ hybridization and review of the literature

1996 • 34 citations

Molecular description of three macro-deletions and an Alu–Alu recombination-mediated duplication in the HPRT gene in four patients with Lesch-Nyhan disease

2001 • 32 citations

Chromosomal phenotypes and submicroscopic abnormalities

2004 • 27 citations

Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder

2005 • 19 citations

Trisomy 16p: A longitudinal profile and photo essay

2005 • 9 citations