Diagnostic Genome Profiling in Mental Retardation

A tutorial on hidden Markov models and selected applications in speech recognition

1989 • 22,242 citations

The viterbi algorithm

1973 • 5,597 citations

Global variation in copy number in the human genome

2006 • 4,228 citations

Comparative Genomic Hybridization for Molecular Cytogenetic Analysis of Solid Tumors

1992 • 3,344 citations

Detection of large-scale variation in the human genome

2004 • 2,876 citations

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

2002 • 2,637 citations

Large-Scale Copy Number Polymorphism in the Human Genome

2004 • 2,542 citations

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

1998 • 2,266 citations

Genome-wide analysis of DNA copy-number changes using cDNA microarrays

1999 • 1,445 citations

Degenerate oligonucleotide-primed PCR: General amplification of target DNA by a single degenerate primer

1992 • 1,413 citations

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

1959 • 1,360 citations

Karyotyping human chromosomes by combinatorial multi-fluor FISH

1996 • 1,265 citations

Avian Clinical Biochemistry

1997 • 1,207 citations

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

2004 • 1,169 citations

THE CHROMOSOME NUMBER OF MAN

2010 • 1,059 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

Matrix-based comparative genomic hybridization: Biochips to screen for genomic imbalances

1997 • 991 citations

Segmental Duplications and Copy-Number Variation in the Human Genome

2005 • 955 citations

Assembly of microarrays for genome-wide measurement of DNA copy number

2001 • 948 citations

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1998 • 907 citations

Prediction of the Coding Sequences of Unidentified Human Genes. IX. The Complete Sequences of 100 New cDNA Clones from Brain Which Can Code for Large Proteins in vitro

1998 • 848 citations

[Study of somatic chromosomes from 9 mongoloid children].

1959 • 809 citations

High Resolution of Human Chromosomes

1976 • 786 citations

A Colchicine, Hypotonic Citrate, Squash Sequence for Mammalian Chromosomes

1956 • 771 citations

Catalogue of Unbalanced Chromosome Aberrations in Man

1983 • 759 citations

Common deletion polymorphisms in the human genome

2005 • 722 citations

Mental Retardation: Definition, Classification, and Systems of Supports

2002 • 701 citations

MULTIPLE CONGENITAL ANOMALY CAUSED BY AN EXTRA AUTOSOME

1960 • 676 citations

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

2005 • 664 citations

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

2006 • 655 citations

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

2005 • 651 citations

A tiling resolution DNA microarray with complete coverage of the human genome

2004 • 644 citations

Weighted median filters: a tutorial

1996 • 628 citations

Deletions of Chromosome 15 as a Cause of the Prader–Willi Syndrome

1981 • 615 citations

A NEW TRISOMIC SYNDROME

1960 • 610 citations

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

2002 • 610 citations

High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

2006 • 512 citations

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

1995 • 510 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

X-linked mental retardation

2005 • 500 citations

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

2003 • 479 citations

Subtle chromosomal rearrangements in children with unexplained mental retardation

1999 • 457 citations

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

1997 • 457 citations

Representational Oligonucleotide Microarray Analysis: A High-Resolution Method to Detect Genome Copy Number Variation

2003 • 452 citations

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

2006 • 445 citations

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

2005 • 439 citations

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

1992 • 421 citations

Catalogue of Unbalanced Chromosome Aberrations in Man

1985 • 420 citations

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

2006 • 416 citations

The Chromosomes of Man

1956 • 412 citations

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

2005 • 388 citations

Interstitial deletion of (17)(p11.2p11.2) in nine patients

1986 • 387 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

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

2005 • 376 citations

Fluorescence in situ hybridization: applications in cytogenetics and gene mapping

1991 • 375 citations

Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA

2004 • 373 citations

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

2006 • 370 citations

Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion

2000 • 345 citations

Disease mechanisms in inherited neuropathies

2003 • 344 citations

Uniparental paternal disomy in Angelman's syndrome

1991 • 332 citations

KIF5C, a Novel Neuronal Kinesin Enriched in Motor Neurons

2000 • 317 citations

Review of recent epidemiological studies of mental retardation: prevalence, associated disorders, and etiology.

1987 • 315 citations

Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus

2005 • 307 citations

Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation

2006 • 290 citations

Whole genome DNA copy number changes identified by high density oligonucleotide arrays

2004 • 279 citations

Human and mouse oligonucleotide-based array CGH

2005 • 275 citations

Analysis of chromosome breakpoints in neuroblastoma at sub‐kilobase resolution using fine‐tiling oligonucleotide array CGH

2005 • 273 citations

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

2001 • 269 citations

Genetics and pathophysiology of mental retardation

2006 • 257 citations

Mental Retardation: Definition, Classification, and Systems of Support

2003 • 256 citations

3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome

2005 • 253 citations

Chromosomal microdeletions: dissecting del22q11 syndrome

2001 • 252 citations

Is angelman syndrome an alternate result of del(15)(qllql3)?

1987 • 238 citations

Clinical and molecular diagnosis of Miller-Dieker syndrome.

1991 • 232 citations

Telomeres: a diagnosis at the end of the chromosomes

2003 • 224 citations

High-Throughput Analysis of Subtelomeric Chromosome Rearrangements by Use of Array-Based Comparative Genomic Hybridization

2002 • 220 citations

Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases

2006 • 219 citations

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

2005 • 208 citations

Screening and Diagnosis for the Fragile X Syndrome among the Mentally Retarded: An Epidemiological and Psychological Survey

1997 • 207 citations

Comparison of the 15q deletions in Prader‐Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences

1990 • 199 citations

Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase

2006 • 195 citations

High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH

2001 • 169 citations

Molecular-evolutionary mechanisms for genomic disorders

2002 • 164 citations

Identification of disease genes by whole genome CGH arrays

2005 • 164 citations

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)

2004 • 163 citations

Molecular Karyotyping: Array CGH Quality Criteria for Constitutional Genetic Diagnosis

2005 • 157 citations

Comparative study of methyl-CpG-binding domain proteins

2003 • 155 citations

A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications

2002 • 144 citations

Reported biomedical causes and associated medical conditions for mental retardation among 10‐year‐old children, metropolitan Atlanta, 1985 to 1987

1997 • 140 citations

The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation

2003 • 138 citations

Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions

2003 • 137 citations

Identification of a 3.0-kb Major Recombination Hotspot in Patients with Sotos Syndrome Who Carry a Common 1.9-Mb Microdeletion

2004 • 130 citations

A cytogeneticist's perspective on genomic microarrays

2004 • 130 citations

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

2006 • 128 citations

A set of BAC clones spanning the human genome

2004 • 125 citations

Prediction of the Coding Sequences of Unidentified Human Genes. XVII. The Complete Sequences of 100 New cDNA Clones from Brain Which Code for Large Proteins in vitro

2000 • 124 citations

Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3.

1994 • 123 citations

Definition of a Critical Region on Chromosome 18 for Congenital Aural Atresia by ArrayCGH

2003 • 118 citations

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

2005 • 109 citations

Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA)

2003 • 107 citations

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

2005 • 107 citations

MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams–Beuren syndrome regions

2006 • 106 citations

The chromosome number in man

1963 • 103 citations

BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications

2004 • 102 citations

The end of the beginning of chromosome ends†

2002 • 98 citations

Concurrent analysis of loss of heterozygosity (LOH) and copy number abnormality (CNA) for oral premalignancy progression using the Affymetrix 10K SNP mapping array

2004 • 93 citations

Chromosome 2q terminal deletion: Report of 6 new patients and review of phenotype‐breakpoint correlations in 66 individuals

2004 • 90 citations

Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye

2004 • 90 citations

The genetics of mental retardation

2006 • 87 citations

Historical prospective of human cytogenetics: from microscope to microarray

2004 • 84 citations

ZNF674: A New Krüppel-Associated Box–Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation

2006 • 83 citations

Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders

2004 • 80 citations

Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay

2001 • 73 citations

Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome

2004 • 71 citations

BAC array CGH reveals genomic aberrations in idiopathic mental retardation

2006 • 67 citations

X chromosome array-CGH for the identification of novel X-linked mental retardation genes

2005 • 48 citations

An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations

2013 • 42 citations

The outcome of diagnostic studies on the etiology of mental retardation: Considerations on the classification of the causes

2005 • 38 citations

The utility of spectral karyotyping in the cytogenetic analysis of newly diagnosed pediatric acute lymphoblastic leukemia

2002 • 38 citations

Chromosomal aberrations, subtelomeric defects, and mental retardation

2001 • 20 citations

Cytogenetics — In Color and Digitized

2004 • 19 citations

Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome patients defined on a purpose-built genomic microarray

2004 • 19 citations

A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation

2006 • 13 citations

The use of genomic microarrays to study chromosomal abnormalities in mental retardation

2005 • 12 citations