M<scp>OLECULAR</scp>M<scp>ECHANISMS FOR</scp>G<scp>ENOMIC</scp>D<scp>ISORDERS</scp>

Initial sequencing and analysis of the human genome

2001 • 23,520 citations

Evolution by Gene Duplication

1970 • 6,000 citations

Evolution by gene duplication

1970 • 5,849 citations

DNA Repair and Mutagenesis

2006 • 4,725 citations

The double-strand-break repair model for recombination

1983 • 2,468 citations

DNA repair and mutagenesis

1996 • 2,289 citations

Multiple Pathways of Recombination Induced by Double-Strand Breaks in Saccharomyces cerevisiae

1999 • 2,095 citations

A molecular timescale for vertebrate evolution

1998 • 1,945 citations

Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus

1990 • 1,882 citations

Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping

1990 • 1,300 citations

Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11

1996 • 1,296 citations

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1991 • 1,293 citations

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

1997 • 1,239 citations

Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency*

2000 • 1,208 citations

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

1995 • 1,197 citations

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome

1993 • 1,135 citations

A chimaeric llβ-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension

1992 • 1,126 citations

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

1997 • 1,121 citations

Comprehensive Human Genetic Maps: Individual and Sex-Specific Variation in Recombination

1998 • 1,092 citations

Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats

1993 • 1,067 citations

Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice

2001 • 996 citations

TBX1 Is Responsible for Cardiovascular Defects in Velo-Cardio-Facial/DiGeorge Syndrome

2001 • 963 citations

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

1998 • 907 citations

Genome architecture, rearrangements and genomic disorders

2002 • 906 citations

Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease

1974 • 874 citations

Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

2000 • 867 citations

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1993 • 791 citations

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

1993 • 787 citations

Molecular Genetics of Inherited Variation in Human Color Vision

1986 • 777 citations

Embryonic Lethality and Vascular Defects in Mice Lacking the Notch Ligand Jagged1

1999 • 756 citations

Positive Darwinian selection after gene duplication in primate ribonuclease genes

1998 • 739 citations

Genomic Divergences between Humans and Other Hominoids and the Effective Population Size of the Common Ancestor of Humans and Chimpanzees

2001 • 725 citations

Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti

2000 • 714 citations

A hyperconversion mechanism generates the chicken light chain preimmune repertoire

1987 • 693 citations

The Complete Human Olfactory Subgenome

2001 • 692 citations

The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men

2001 • 662 citations

Segmental Duplications: Organization and Impact Within the Current Human Genome Project Assembly

2001 • 632 citations

Haploinsufficiency of NSD1 causes Sotos syndrome

2002 • 608 citations

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)

2000 • 601 citations

Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

1992 • 576 citations

Sister chromatid gene conversion is a prominent double-strand break repair pathway in mammalian cells

2000 • 572 citations

Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality

1998 • 571 citations

LIM-kinase1 Hemizygosity Implicated in Impaired Visuospatial Constructive Cognition

1996 • 554 citations

Segmental Duplications: Organization and Impact Within the Current Human Genome Project Assembly

2001 • 544 citations

HOMOLOGOUS RECOMBINATION IN ESCHERICHIA COLI: DEPENDENCE ON SUBSTRATE LENGTH AND HOMOLOGY

1986 • 531 citations

The chromosomal arrangement of human α-like globin genes: Sequence homology and α-globin gene deletions

1980 • 531 citations

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

2000 • 504 citations

The gene for the peripheral myelin protein PMP–22 is a candidate for Charcot–Marie–Tooth disease type 1A

1992 • 497 citations

Gene conversion: Some implications for immunoglobulin genes

1981 • 496 citations

Chromosome engineering in mice

1995 • 479 citations

Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor

1994 • 473 citations

A mouse model of Alagille syndrome:Notch2as a genetic modifier ofJag1haploinsufficiency

2002 • 465 citations

A common molecular basis for rearrangement disorders on chromosome 22q11

1999 • 438 citations

Double-strand break repair by interchromosomal recombination: suppression of chromosomal translocations

1998 • 435 citations

Efficient copying of nonhomologous sequences from ectopic sites via P-element-induced gap repair.

1994 • 430 citations

Identical point mutations of PMP–22 in Trembler–J mouse and Charcot–Marie–Tooth disease type 1A

1992 • 422 citations

Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)

1995 • 421 citations

The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis

1993 • 419 citations

Segmental duplications and the evolution of the primate genome

2002 • 415 citations

Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study

1996 • 415 citations

Homothallic switching of yeast mating type cassettes is initiated by a double-stranded cut in the MAT locus

1982 • 411 citations

DNA recombination: the replication connection

1999 • 411 citations

Congenital heart disease in mice deficient for the DiGeorge syndrome region

1999 • 410 citations

Disruption of Gastrulation and Heparan Sulfate Biosynthesis in EXT1-Deficient Mice

2000 • 408 citations

MATING-TYPE GENE SWITCHING IN SACCHAROMYCES CEREVISIAE

1998 • 405 citations

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

1997 • 385 citations

Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1992 • 385 citations

The peripheral myelin protein gene PMP–22 is contained within the Charcot–Marie–Tooth disease type 1A duplication

1992 • 383 citations

MOLECULAR MECHANISMS FOR CONSTITUTIONAL CHROMOSOMAL REARRANGEMENTS IN HUMANS

2000 • 375 citations

A Transgenic Rat Model of Charcot-Marie-Tooth Disease

1996 • 366 citations

Low-Copy Repeats Mediate the Common 3-Mb Deletion in Patients with Velo-cardio-facial Syndrome

1999 • 363 citations

Olfactory Receptor–Gene Clusters, Genomic-Inversion Polymorphisms, and Common Chromosome Rearrangements

2001 • 362 citations

Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice

1995 • 360 citations

Targeted Gene Replacement in Drosophila Via P Element-Induced Gap Repair

1991 • 352 citations

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

2000 • 345 citations

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

1991 • 342 citations

Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase

1992 • 340 citations

Contiguous gene syndromes: A component of recognizable syndromes

1986 • 339 citations

Recent duplication, domain accretion and the dynamic mutation of the human genome

2001 • 332 citations

A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome

2001 • 329 citations

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

1993 • 325 citations

Recombination at Double-Strand Breaks and DNA Ends

2001 • 322 citations

Analysis and Classification of 304 Mutant Alleles in Patients with Type 1 and Type 3 Gaucher Disease

2000 • 320 citations

Integration of cytogenetic landmarks into the draft sequence of the human genome

2001 • 320 citations

The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A

1992 • 317 citations

Genomic Variation and Gene Conversion in Spinal Muscular Atrophy: Implications for Disease Process and Clinical Phenotype

1997 • 316 citations

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

2000 • 315 citations

The Consequences of Chromosome Imbalance

1986 • 314 citations

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

1994 • 313 citations

Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism

1999 • 308 citations

Peripheral myelin protein–22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot–Marie–Tooth 1A

1992 • 295 citations

Positive selection of a gene family during the emergence of humans and African apes

2001 • 294 citations

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element

1996 • 291 citations

Abnormal skeletal patterning in embryos lacking a single Cbp allele: A partial similarity with Rubinstein–Taybi syndrome

1997 • 289 citations

Segmental duplications: an 'expanding' role in genomic instability and disease

2001 • 287 citations

Chromosome Breakage in the Prader-Willi and Angelman Syndromes Involves Recombination between Large, Transcribed Repeats at Proximal and Distal Breakpoints

1999 • 281 citations

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

1992 • 280 citations

Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage

1994 • 277 citations

Large genomic duplicons map to sites of instability in the Prader- Willi/Angelman syndrome chromosome region (15q11-q13)

1999 • 270 citations

Complete physical map of the WAGR region of 11p13 localizes a candidate Wilms' tumor gene

1990 • 264 citations

Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene

1994 • 263 citations

Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions

1993 • 263 citations

Somatic diversification of immunoglobulin heavy chain VDJ genes: Evidence for somatic gene conversion in rabbits

1990 • 255 citations

Homology requirements for recombination in Escherichia coli.

1985 • 255 citations

Molecular Evolution by Wen-Hsiung Li. Published by Sinauer Associates, Sunderland, MA, USA. ISBN: 0-87893-463-4 (cloth).

1997 • 252 citations

A population study of chromosome 22q11 deletions in infancy

1998 • 247 citations

Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome.

1995 • 243 citations

Engineering chromosomal rearrangements in mice

2001 • 243 citations

Mekk3 is essential for early embryonic cardiovascular development

2000 • 243 citations

Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA

1996 • 240 citations

Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes

1999 • 240 citations

Williams-Beuren syndrome:genes and mechanisms

1999 • 237 citations

Dual roles for DNA sequence identity and the mismatch repair system in the regulation of mitotic crossing-over in yeast

1997 • 230 citations

Spectrum and Frequency of Jagged1 (JAG1) Mutations in Alagille Syndrome Patients and Their Families

1998 • 226 citations

Recombination and Gene Flux Caused by Gene Conversion and Crossing Over in Inversion Heterokaryotypes

1997 • 226 citations

Impaired Differentiation of Schwann Cells in Transgenic Mice with IncreasedPMP22Gene Dosage

1996 • 226 citations

Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology.

1988 • 226 citations

Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.

1996 • 223 citations

Expansions and Contractions in a Tandem Repeat Induced by Double-Strand Break Repair

1998 • 222 citations

A Polymorphic Genomic Duplication on Human Chromosome 15 Is a Susceptibility Factor for Panic and Phobic Disorders

2001 • 219 citations

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease

2000 • 218 citations

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

1994 • 217 citations

Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes

1998 • 213 citations

Homology Requirement for Efficient Gene Conversion Between Duplicated Chromosomal Sequences in Mammalian Cells

1987 • 207 citations

Homology and concerted evolution at the α1 and α2 loci of human α-globin

1981 • 207 citations

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

2000 • 197 citations

Mutations in the EXT1 and EXT2 Genes in Hereditary Multiple Exostoses

1998 • 195 citations

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.

1993 • 191 citations

Genetic aspects of hereditary motor and sensory neuropathy (types I and II)

1980 • 191 citations

A Physical Map, Including a BAC/PAC Clone Contig, of the Williams-Beuren Syndrome–Deletion Region at 7q11.23

2000 • 183 citations

A transcribed gene in an intron of the human factor VIII gene

1990 • 182 citations

Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms.

1995 • 181 citations

A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations

2001 • 180 citations

Tandem Array of Human Visual Pigment Genes at Xq28

1988 • 179 citations

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay

1998 • 179 citations

Recombination hotspot in NF1 microdeletion patients

2001 • 178 citations

Human Meiotic Recombination Products Revealed by Sequencing a Hotspot for Homologous Strand Exchange in Multiple HNPP Deletion Patients

1998 • 176 citations

Human-Specific Duplication and Mosaic Transcripts: The Recent Paralogous Structure of Chromosome 22

2002 • 172 citations

Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome

1995 • 169 citations

Molecular-evolutionary mechanisms for genomic disorders

2002 • 164 citations

Substrate Length Requirements for Efficient Mitotic Recombination in Saccharomyces cerevisiae

1993 • 163 citations

De-novo mutation in hereditary motor and sensory neuropathy type I

1992 • 160 citations

A novel α-globin gene arrangement in man

1980 • 159 citations

Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats

1997 • 154 citations

Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments

2001 • 154 citations

Recombinational repair of gaps in DNA is asymmetric in Ustilago maydis and can be explained by a migrating D-loop model.

1996 • 153 citations

Rapid evolution of a unique family of primate ribonuclease genes

1995 • 148 citations

Duplication of the proteolipid protein gene is the major cause of Pelizaeus‐Merzbacher disease

1998 • 146 citations

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

2001 • 140 citations

The Molecular Pathogenesis of Pelizaeus-Merzbacher Disease

1999 • 139 citations

Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature review

2001 • 137 citations

Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions

1995 • 136 citations

Late-onset neurodegeneration in mice with increased dosage of the proteolipid protein gene

1998 • 134 citations

Engineering a mouse balancer chromosome

1999 • 133 citations

Molecular Characterization and Gene Content of Breakpoint Boundaries in Patients with Neurofibromatosis Type 1 with 17q11.2 Microdeletions

2001 • 131 citations

Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations

1999 • 130 citations

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

1993 • 126 citations

Large multi-chromosomal duplications encompass many members of the olfactory receptor gene family in the human genome

1998 • 121 citations

Deletions spanning the neurofibromatosis type 1 gene: Implications for genotype-phenotype correlations in neurofibromatosis type 1?

1997 • 118 citations

Williams syndrome professional symposium

2005 • 118 citations

A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR.

1996 • 118 citations

Chromsome synapsis and genetic recombination: their roles in meiotic chromsome segregation

1990 • 115 citations

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.

1993 • 114 citations

Isochromosome 17q in Blast Crisis of Chronic Myeloid Leukemia and in Other Hematologic Malignancies Is the Result of Clustered Breakpoints in 17p11 and Is Not Associated With Coding TP53 Mutations

1999 • 114 citations

Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse

2002 • 114 citations

Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes

1998 • 113 citations

Pathological Consequences of Sequence Duplications in the Human Genome

1998 • 112 citations

Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/ del22q11 syndromes

2001 • 109 citations

Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin

1998 • 109 citations

Pelizaeus-Merzbacher Disease: Identification of Xq22 Proteolipid-Protein Duplications and Characterization of Breakpoints by Interphase FISH

1998 • 108 citations

The mechanisms involved in formation of deletions and duplications of 15q11-q13.

1998 • 107 citations

Fine-Scale Comparative Mapping of the Human 7q11.23 Region and the Orthologous Region on Mouse Chromosome 5G: The Low-Copy Repeats That Flank the Williams–Beuren Syndrome Deletion Arose at Breakpoint Sites of an Evolutionary Inversion(s)

2000 • 107 citations

Substrate length requirements for efficient mitotic recombination in Saccharomyces cerevisiae.

1993 • 106 citations

The Mosaic Structure of Human Pericentromeric DNA: A Strategy for Characterizing Complex Regions of the Human Genome

2000 • 105 citations

Analysis of the Cat Eye Syndrome Critical Region in Humans and the Region of Conserved Synteny in Mice: A Search for Candidate Genes at or near the Human Chromosome 22 Pericentromere

2001 • 103 citations

Segmental Duplications: What's Missing, Misassigned, and Misassembled—and Should We Care?: Figure 1.

2001 • 102 citations

Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients

1996 • 99 citations

Molecular basis of human growth hormone gene deletions.

1988 • 96 citations

Molecular structure and evolution of an alpha satellite/non-alpha satellite junction at 16p11

2000 • 96 citations

A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications

1998 • 94 citations

Structure and Evolution of the Smith-Magenis Syndrome Repeat Gene Clusters, SMS-REPs

2002 • 93 citations

Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.

1998 • 91 citations

The Evolutionary Chromosome Translocation 4;19 inGorilla gorillais Associated with Microduplication of the Chromosome Fragment Syntenic to Sequences Surrounding the Human Proximal CMT1A-REP

2001 • 90 citations

Jumping translocations are common in solid tumor cell lines and result in recurrent fusions of whole chromosome arms

2001 • 89 citations

From mouse to man: generating megabase chromosome rearrangements

2001 • 87 citations

The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs

1997 • 87 citations

Coconversion of flanking sequences with homothallic switching

1989 • 87 citations

Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot

1996 • 85 citations

Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes

2001 • 84 citations

Homology requirements for unequal crossing over in humans.

1991 • 82 citations

Fine mapping of de novo CMT1A and HNPP rearrangements within CMTIA-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination

1998 • 81 citations

Molecular and phenotypic variation in patients with severe Hunter syndrome

1997 • 77 citations

Hot Spots for Growth Hormone Gene Deletions in Homologous Regions Outside of Alu Repeats

1990 • 77 citations

Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions

1999 • 76 citations

Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin.

1996 • 71 citations

Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects.

1993 • 69 citations

22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin

1998 • 68 citations

Excess of deletions of maternal origin in the DiGeorge/Velo-cardio-facial syndromes. A study of 22 new patients and review of the literature

1995 • 68 citations

Sequence Variability of a Human Pseudogene

2001 • 68 citations

Comparative Mapping of the Region of Human Chromosome 7 Deleted in Williams Syndrome

1999 • 67 citations

Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.

1990 • 64 citations

Interstitial deletion of 11 (P11.2p12): A newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2)

1996 • 63 citations

Antigenic variation in African trypanosomes

1992 • 63 citations

Additional Complexity on Human Chromosome 15q: Identification of a Set of Newly Recognized Duplicons (LCR15) on 15q11–q13, 15q24, and 15q26

2001 • 62 citations

Nested chromosomal deletions induced with retroviral vectors in mice

2000 • 61 citations

Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP

1995 • 61 citations

Homologous DNA Exchanges in Humans Can Be Explained by the Yeast Double-Strand Break Repair Model: A Study of 17p11.2 Rearrangements Associated with CMT1A and HNPP

1999 • 58 citations

Transcriptional activity of multiple copies of a subtelomerically located olfactory receptor gene that is polymorphic in number and location

2001 • 55 citations

Alternatively sized duplication in Charcot — Marie — Tooth disease type 1A

1993 • 54 citations

Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group.

1996 • 53 citations

Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome

1997 • 53 citations

Cloning of Breakpoints of a Chromosome Translocation Identifies the AN2 Locus

1989 • 53 citations

Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.

1997 • 52 citations

Mating-type gene switching in Saccharomyces cerevisiae

1992 • 52 citations

Identification of de novo deletions at the NF1 gene: no preferential paternal origin and phenotypic analysis of patients

1997 • 51 citations

Cell death of oligodendrocytes or demyelination induced by overexpression of proteolipid protein depending on expressed gene dosage

1996 • 50 citations

A Complete Physical Contig and Partial Transcript Map of the Williams Syndrome Critical Region

1999 • 49 citations

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)

2000 • 48 citations

Sequence Variability of a Human Pseudogene

2001 • 46 citations

Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation

1997 • 44 citations

Charcot — Marie — Tooth neuropathy type 1A with both duplication and non-duplication

1993 • 43 citations

Molecular Mechanisms for CMT1A Duplication and HNPP Deletion

1999 • 41 citations

A Transgenic Mouse Model for Human Hereditary Neuropathy with Liability to Pressure Palsies

1997 • 40 citations

Gene conversion homogenizes the CMT1A paralogous repeats

2001 • 39 citations

Unequal exchange at the Charcot-Marie-Tooth disease type 1A recombination hot-spot is not elevated above the genome average rate

2000 • 38 citations

Distinct Phenotypes Associated with Increasing Dosage of the PLP Gene: Implications for CMT1A Due to PMP22 Gene Duplication

1999 • 35 citations

POM-ZP3, a bipartite transcript derived from human ZP3 and a POM121 homologue

1995 • 35 citations

Absence ofPMP22 coding region mutations in CMT1A duplication patients: Further evidence supporting gene dosage as a mechanism for charcot-marie-tooth disease type 1A

1996 • 32 citations

Interstitial deletion of 11q.

1989 • 32 citations

Emerin Deletions Occurring on Both Xq28 Inversion Backgrounds

1998 • 31 citations

Trisomy 17p10‐p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype

2001 • 29 citations

A Cascade of Complex Subtelomeric Duplications during the Evolution of the Hominoid and Old World Monkey Genomes

2002 • 28 citations

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1999 • 27 citations

Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP

1997 • 26 citations

Molecular evolution of the CMT1A-REP region: a human- and chimpanzee- specific repeat

1999 • 25 citations

Deletions spanning the neurofibromatosis type 1 gene: Implications for genotype‐phenotype correlations in neurofibromatosis type 1?

1997 • 18 citations

Charcot‐Marie‐Tooth disease type 1A: the parental origin of a de novo 17p11.2‐p12 duplication

1994 • 17 citations

Chromosome 22q11 deletion and other chromosome aberrations in cases with cleft palate, congenital heart defects and/or mental disability. A survey based on the Danish Facial Cleft Register

1996 • 16 citations

Antigenic variation in African trypanosomes

1992 • 15 citations

Proteolipid protein gene duplications causing Pelizaeus‐Merzbacher disease: Molecular mechanism and phenotypic manifestations

1999 • 13 citations

Glucocerebrosidase gene mutations in patients with type 2 Gaucher diseaseThis article is a US Government work and, as such, is in the public domain in the United States of America.

2000 • 4 citations

Absence of PMP22 coding region mutations in CMT1A duplication patients: Further evidence supporting gene dosage as a mechanism for charcot‐marie‐tooth disease type 1A

1996 • 3 citations

Cell death of oligodendrocytes or demyelination induced by overexpression of proteolipid protein depending on expressed gene dosage

1996 • 3 citations