Molecular genetics and animal models in autistic disorder

Gene Dose of Apolipoprotein E Type 4 Allele and the Risk of Alzheimer's Disease in Late Onset Families

1993 • 8,888 citations

Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

1995 • 5,291 citations

Association of Anxiety-Related Traits with a Polymorphism in the Serotonin Transporter Gene Regulatory Region

1996 • 5,154 citations

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

1999 • 4,776 citations

Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM).

1993 • 3,693 citations

Genetic Dissection of Complex Traits

1994 • 3,497 citations

Autism as a strongly genetic disorder: evidence from a British twin study

1995 • 2,442 citations

Searching for genetic determinants in the new millennium

2000 • 1,878 citations

Sequential tests for the detection of linkage.

1955 • 1,590 citations

Eating disorder and epilepsy in mice lacking 5-HT2C serotonin receptors

1995 • 1,264 citations

Social amnesia in mice lacking the oxytocin gene

2000 • 1,097 citations

A Case‐Control Family History Study of Autism

1994 • 1,076 citations

Practice parameter: Screening and diagnosis of autism

2000 • 1,050 citations

Abnormal dendritic spines in fragile X knockout mice: Maturation and pruning deficits

1997 • 1,019 citations

The epidemiology of autism: a review

1999 • 987 citations

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations

2000 • 867 citations

Mutation of the Angelman Ubiquitin Ligase in Mice Causes Increased Cytoplasmic p53 and Deficits of Contextual Learning and Long-Term Potentiation

1998 • 820 citations

Plasma oxytocin levels in autistic children

1998 • 715 citations

Altered Brain Serotonin Homeostasis and Locomotor Insensitivity to 3,4-Methylenedioxymethamphetamine (“Ecstasy”) in Serotonin Transporter-Deficient Mice

1998 • 704 citations

A Genomic Screen of Autism: Evidence for a Multilocus Etiology

1999 • 695 citations

Autism or atypical autism in maternally but not paternally derived proximal 15q duplication.

1997 • 639 citations

Organization of the human serotonin transporter gene

1994 • 623 citations

Embryological origin for autism: Developmental anomalies of the cranial nerve motor nuclei

1996 • 614 citations

A Double-blind, Placebo-Controlled Study of Fluvoxamine in Adults With Autistic Disorder

1996 • 541 citations

Developmental defects of the ear, cranial nerves and hindbrain resulting from targeted disruption of the mouse homeobox geneHox-#150;1.6

1992 • 537 citations

A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium

1998 • 535 citations

Autism and tuberous sclerosis

1992 • 528 citations

Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons

1997 • 495 citations

Autism Spectrum Disorders

2000 • 493 citations

Genome-Wide Scan for Autism Susceptibility Genes

1999 • 479 citations

Localisation of a gene implicated in a severe speech and language disorder

1998 • 476 citations

Social Interaction and Sensorimotor Gating Abnormalities in Mice Lacking Dvl1

1997 • 466 citations

AUTISM IN THALIDOMIDE EMBRYOPATHY: A POPULATION STUDY

1994 • 451 citations

Mice Lacking the β₃Subunit of the GABA_AReceptor Have the Epilepsy Phenotype and Many of the Behavioral Characteristics of Angelman Syndrome

1998 • 449 citations

Evidence of linkage between the serotonin transporter and autistic disorder

1997 • 435 citations

Oxytocin and autistic disorder: alterations in peptide forms

2001 • 406 citations

Genetic influences and infantile autism

1977 • 398 citations

A Double-blind Comparison of Clomipramine, Desipramine, and Placebo in the Treatment of Autistic Disorder

1993 • 390 citations

The serotonin system in autism

1996 • 389 citations

A serotonin transporter gene intron 2 polymorphic region, correlated with affective disorders, has allele-dependent differential enhancer-like properties in the mouse embryo

1999 • 372 citations

Autism and maternally derived aberrations of chromosome 15q

1998 • 369 citations

Prenatal exposure of rats to valproic acid reproduces the cerebellar anomalies associated with autism

2000 • 364 citations

Linkage-Disequilibrium Mapping of Autistic Disorder, with 15q11-13 Markers

1998 • 362 citations

An autosomal genomic screen for autism

1999 • 361 citations

Molecular genetic advances in tuberous sclerosis

2000 • 354 citations

Genetically driven variation in serotonin uptake: is there a link to affective spectrum, neurodevelopmental, and neurodegenerative disorders?

1998 • 344 citations

Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder

2001 • 340 citations

Evidence for a Susceptibility Gene for Autism on Chromosome 2 and for Genetic Heterogeneity

2001 • 326 citations

The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho

2000 • 325 citations

Medial temporal lobe structures and autism: A review of clinical and experimental findings

1994 • 323 citations

Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome

2000 • 320 citations

An autosomal genomic screen for autism

1999 • 302 citations

A mouse model for Prader-Willi syndrome imprinting-centre mutations

1998 • 298 citations

Genetics and Child Psychiatry: II Empirical Research Findings

1999 • 292 citations

Prader-Willi and Angelman syndromes: Sister imprinted disorders

2000 • 291 citations

Pharmacogenetics and the serotonin system: initial studies and future directions

2000 • 282 citations

Genetic epidemiology of single-nucleotide polymorphisms

1999 • 278 citations

GABA and Epileptogenesis

1997 • 269 citations

(Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features

2000 • 267 citations

Serotonin transporter (5-HTT) gene variants associated with autism?

1997 • 260 citations

Association of tuberous sclerosis of temporal lobes with autism and atypical autism

1997 • 254 citations

Tests and estimates of allelic association in complex inheritance

1998 • 250 citations

An Infantile Autistic Syndrome Characterized By the Presence of Succinyl Purines in Body-fluids

1984 • 245 citations

Genetics of autism: overview and new directions.

1998 • 245 citations

Linking etiologies in humans and animal models: Studies of autism

1997 • 241 citations

Chromosomal disorders and autism.

1998 • 226 citations

Microdialysis administration of vasopressin into the septum improves social recognition in Brattleboro rats

1994 • 219 citations

Oxytocin, Vasopressin, and Autism: Is There a Connection?

2002 • 212 citations

Etiology of infantile autism: a review of recent advances in genetic and neurobiological research.

1999 • 210 citations

Evidence supporting WNT2 as an autism susceptibility gene

2001 • 209 citations

The SPCH1 Region on Human 7q31: Genomic Characterization of the Critical Interval and Localization of Translocations Associated with Speech and Language Disorder

2000 • 206 citations

Mildly impaired water maze performance in maleFmr1 knockout mice

1997 • 205 citations

Genetic Studies of Autistic Disorder and Chromosome 7

1999 • 197 citations

Untitled

1998 • 196 citations

AN INFANTILE AUTISTIC SYNDROME CHARACTERISED BY THE PRESENCE OF SUCCINYLPURINES IN BODY FLUIDS

1984 • 185 citations

Characterization of the Cytosolic Tuberin-Hamartin Complex

1999 • 182 citations

Transgenic mouse model for the fragile X syndrome

1996 • 177 citations

A candidate mouse model for Prader–Willi syndrome which shows an absence of Snrpn expression

1992 • 176 citations

Autism Associated With the Mitochondrial DNA G8363A Transfer RNALys Mutation

2000 • 164 citations

Platelet serotonin studies in hyperserotonemic relatives of children with autistic disorder

1993 • 162 citations

Analysis of linkage disequilibrium in ?-aminobutyric acid receptor subunit genes in autistic disorder

2000 • 161 citations

Paternal Deletion from Snrpn to Ube3a in the Mouse Causes Hypotonia, Growth Retardation and Partial Lethality and Provides Evidence for a Gene Contributing to Prader-Willi Syndrome

1999 • 159 citations

Serotonin transporter (5-HTT) and ?-aminobutyric acid receptor subunit ?3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families

1999 • 158 citations

A tetranucleotide polymorphic microsatellite, located in the first intron of the tyrosine hydroxylase gene, acts as a transcription regulatory element in vitro

1998 • 156 citations

Autism: recent molecular genetic advances

2000 • 154 citations

Discovery of allelic variants ofHOXA1 andHOXB1: Genetic susceptibility to autism spectrum disorders

2000 • 150 citations

Quantifying the phenotype in autism spectrum disorders

2001 • 146 citations

Autism: the point of view from fragile X studies.

1998 • 139 citations

A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus.

1991 • 136 citations

Strong association of the third hypervariable region of HLA-DRβ1 with autism

1996 • 129 citations

Developmental brain injury associated with abnormal play behavior in neonatally Borna disease virus-infected Lewis rats: a model of autism

1999 • 128 citations

Genetics of Autism

2001 • 128 citations

A mutation in adenylosuccinate lyase associated with mental retardation and autistic features

1992 • 123 citations

Deficiency of the β3 subunit of the type A γ–aminobutyric acid receptor causes cleft palate in mice

1995 • 122 citations

A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and Angelman syndromes

1999 • 121 citations

Identification of a Novel Gene on Chromosome 7q31 That Is Interrupted by a Translocation Breakpoint in an Autistic Individual

2000 • 121 citations

Lack of association between serotonin transporter gene promoter variants and autistic disorder in two ethnically distinct samples

2000 • 112 citations

Effects of early midline cerebellar lesion on cognitive and emotional functions in the rat

2000 • 111 citations

Increased frequency of the null allele at the complement C4b locus in autism

1991 • 110 citations

Adequacy of single‐locus approximations for linkage analyses of oligogenic traits

1992 • 107 citations

Scan statistics to scan markers for susceptibility genes

2000 • 106 citations

Towards a molecular understandingof Prader-Willi and Angelman syndromes

1999 • 103 citations

Association study with two markers of a human homeogene in infantile autism.

1995 • 101 citations

Autistic symptoms among children and young adults with isodicentric chromosome 15

1998 • 95 citations

Genetic studies in autistic disorder and chromosome 15

2000 • 94 citations

The genetics, if any, of infantile autism and childhood schizophrenia

1976 • 91 citations

Possible association of the exetended MHC haplotype B44-SC30-DR4 with autism

1992 • 86 citations

5-HTTLPR variants not associated with autistic spectrum disorders

1999 • 85 citations

Early amygdala damage in the rat as a model for neurodevelopmental psychopathological disorders

2001 • 85 citations

Increased Frequency of the Extended or Ancestral Haplotype B44-SC3O-DR4 in Autism

1995 • 84 citations

Absence of linkage and linkage disequilibrium to chromosome 15q11‐q13 markers in 139 multiplex families with autism

1999 • 83 citations

Association study of the NF1 gene and autistic disorder

1999 • 82 citations

Transgenic rescue from embryonic lethality and renal carcinogenesis in the Eker rat model by introduction of a wild-type Tsc2 gene

1997 • 75 citations

Brief report: Medial temporal lobe and autism: A putative animal model in primates

1996 • 73 citations

Breakthroughs in molecular andcellular mechanisms underlying X-linked mental retardation

1999 • 73 citations

GABA and epileptogenesis: comparing gabrb3 gene-deficient mice with Angelman syndrome in man

1999 • 72 citations

Molecular manipulations as tools for enhancing our understanding of 5-HT neurotransmission

1999 • 72 citations

Support for linkage of autism and specific language impairment to 7q3 from two chromosome rearrangements involving band 7q31

2000 • 72 citations

Xeroderma Pigmentosum Group C Splice Mutation Associated with Autism and Hypoglycinemia11An abstract of this manuscript was presented at the annual meeting of the Society for Investigative Dermatology in Washington, DC

1998 • 70 citations

Adenosine deaminase alleles and autistic disorder: Case-control and family-based association studies

2000 • 66 citations

Identifying Autism Susceptibility Genes

2000 • 65 citations

Absence of linkage and linkage disequilibrium to chromosome 15q11-q13 markers in 139 multiplex families with autism

1999 • 65 citations

Austism and the X Chromosome

1996 • 63 citations

Serotonin and autism: Biochemical and molecular biology features

1996 • 62 citations

Chromosomes in autism and related pervasive developmental disorders: a cytogenetic study

1998 • 62 citations

Enhanced Cardiomyocyte DNA Synthesis During Myocardial Hypertrophy in Mice Expressing a Modified TSC2 Transgene

2000 • 60 citations

A look at linkage disequilibrium

2000 • 58 citations

Possible association of c-harvey-ras-1 (HRAS-1) marker with autism

1993 • 57 citations

Autism and genetics: Clinical approach and association study with two markers of HRAS gene

1995 • 55 citations

Analysis of autism susceptibility gene loci on chromosomes 1p, 4p, 6q, 7q, 13q, 15q, 16p, 17q, 19q and 22q in Finnish multiplex families

2000 • 55 citations

Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence

1999 • 55 citations

GENETICS AND CHILD PSYCHIATRY

1990 • 54 citations

Mutation screening of the UBE3A /E6-AP gene in autistic disorder

1999 • 53 citations

Decreased binding of [11C]flumazenil in Angelman syndrome patients with GABAA receptor ?3 subunit deletions

2001 • 51 citations

Molecular cloning of hSLP-1, a novel human brain-specific member of the band 7/MEC-2 family similar to Caenorhabditis elegans UNC-24

1998 • 49 citations

Increased Density of the Platelet Serotonin Transporter in Autism

2000 • 46 citations

Analysis of a 1-megabase deletion in 15q22-q23 in an autistic patient: Identification of candidate genes for autism and of homologous DNA segments in 15q22-q23 and 15q11-q13

2000 • 45 citations

Genetic clues to the biological basis of autism

2000 • 44 citations

Studies of the c-Harvey-Ras gene in psychiatric disorders

1996 • 43 citations

The molecular genetics of autism

2000 • 40 citations

Physical mapping of the serotonin 5-HT7 receptor gene (HTR7) to chromosome 10 and pseudogene (HTR7P) to chromosome 12, and testing of linkage disequilibrium betweenHTR7 and autistic disorder

1999 • 39 citations

Exclusion of linkage to the HLA region in ninety multiplex sibships with autism.

1999 • 38 citations

HLA and autism

1980 • 33 citations

Critical overview of current approaches to genetic mechanisms in schizophrenia research

2000 • 30 citations

Mutation screening of human 5-HT2Breceptor gene in early-onset obsessive-compulsive disorder

2000 • 29 citations

X chromosome and infantile autism

1996 • 29 citations

Construction of a Physical and Transcript Map Flanking the Imprinted MEST/PEG1 Region at 7q32

2000 • 29 citations

Molecular genetic studies of schizophrenia

2000 • 28 citations

An animal model of autism: behavioural studies in the GS guinea‐pig

1998 • 27 citations

Autistic Disorder and Chromosome 15q11–q13: Construction and Analysis of a BAC/PAC Contig

1999 • 24 citations

Adenylosuccinate lyase (ADSL) and infantile autism: Absence of previously reported point mutation

1995 • 23 citations

Animal Model for Fragile X Syndrome

1997 • 22 citations

Prader-Willi and Angelman Syndromes

2003 • 22 citations

Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria

1999 • 20 citations

Association analysis between a Cys23ser substitution polymorphism of the human 5-HT2c receptor gene and neuronal hyperexcitability

1999 • 18 citations

A novel non-ataxic guinea pig strain with cerebrocortical and cerebellar abnormalities

1993 • 13 citations

Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria

1999 • 13 citations

Adenosine deaminase alleles and autistic disorder: Case‐control and family‐based association studies

2000 • 4 citations

[Serotonin and autism].

1980 • 1 citations