Imprinted genes and mental dysfunction

Genomic imprinting: parental influence on the genome

2001 • 2,253 citations

Role for DNA methylation in genomic imprinting

1994 • 1,695 citations

Completion of mouse embryogenesis requires both the maternal and paternal genomes

1984 • 1,529 citations

UBE3A/E6-AP mutations cause Angelman syndrome

1997 • 1,270 citations

Genomic imprinting in mammalian development: a parental tug-of-war

1991 • 1,178 citations

Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus

1997 • 1,142 citations

Hypoplasia of Cerebellar Vermal Lobules VI and VII in Autism

1988 • 1,039 citations

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

1997 • 847 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

Tourette syndrome, associated conditions and the complexities of treatment

2000 • 694 citations

Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function

1997 • 670 citations

Autism as an executive disorder

1997 • 658 citations

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

1997 • 639 citations

Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach myatonieartigem Zustand im Neugeborenenalter.

1956 • 625 citations

Lower Purkinje cell counts in the cerebella of four autistic subjects: initial findings of the UCLA-NSAC Autopsy Research Report

1986 • 580 citations

Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest

1998 • 571 citations

Genomic imprinting in mammalian development: a parental tug-of-war

1991 • 539 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

Genetics of bipolar disorder

1999 • 529 citations

‘Puppet’ Children A Report on Three Cases

1965 • 521 citations

Genomic imprinting and the strange case of the insulin-like growth factor II receptor

1991 • 494 citations

Genome-Wide Scan for Autism Susceptibility Genes

1999 • 479 citations

Prader-Willi syndrome.

1997 • 469 citations

The neuropsychology of autism

1996 • 457 citations

AUTISM IN THALIDOMIDE EMBRYOPATHY: A POPULATION STUDY

1994 • 451 citations

Gametic Imprinting in Mammals

1995 • 444 citations

Brainstem, cerebellar and limbic neuroanatomical abnormalities in autism

1997 • 394 citations

Two rhombomeres are altered in Hoxa-1 mutant mice

1993 • 391 citations

Panic and panic disorder in the United States

1994 • 387 citations

Development of the brainstem and cerebellum in autistic patients

1995 • 387 citations

Hippocampus in autism: a Golgi analysis

1995 • 373 citations

Autism and maternally derived aberrations of chromosome 15q

1998 • 369 citations

Genomic Imprinting: Implications for Human Disease

1999 • 363 citations

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

1998 • 362 citations

An autosomal genomic screen for autism

1999 • 361 citations

Ubiquitin C-Terminal Hydrolase Is an Immediate-Early Gene Essential for Long-Term Facilitation in Aplysia

1997 • 359 citations

Evidence for linkage of bipolar disorder to chromosome 18 with a parent-of-origin effect.

1995 • 347 citations

Loss of Hox-A1 (Hox-1.6) function results in the reorganization of the murine hindbrain

1993 • 340 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

Prader-Willi and Angelman syndromes: Sister imprinted disorders

2000 • 291 citations

Imprinting, the X-Chromosome, and the Male Brain: Explaining Sex Differences in the Liability to Autism

2000 • 291 citations

The imprinted gene and parent-of-origin effect database

2001 • 256 citations

Sex differences in higher functioning people with autism

1993 • 227 citations

Parietal lobe abnormalities detected with MR in patients with infantile autism.

1993 • 219 citations

Patterns of maternal transmission in bipolar affective disorder.

1995 • 216 citations

Mice mutant for both Hoxa1 and Hoxb1 show extensive remodeling of the hindbrain and defects in craniofacial development

1999 • 207 citations

Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15

1997 • 205 citations

Meta-analysis of association between the 5-HT2a receptor T102C polymorphism and schizophrenia

1997 • 204 citations

Combining Cognitive Testing and Informant Report to Increase Accuracy in Screening for Dementia

1998 • 198 citations

Genetic Studies of Autistic Disorder and Chromosome 7

1999 • 197 citations

Genes with triplet repeats: candidate mediators of neuropsychiatric disorders

1993 • 187 citations

A genome-wide search for chromosomal loci linked to bipolar affective disorder in the Old Order Amish

1996 • 173 citations

Xp deletions associated with autism in three females

1999 • 172 citations

Roles of Hoxa1 and Hoxa2 in patterning the early hindbrain of the mouse

2000 • 170 citations

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

2000 • 161 citations

A Complete Genome Screen in Sib Pairs Affected by Gilles de la Tourette Syndrome

1999 • 159 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

Human PEG1/MEST, an Imprinted Gene on Chromosome 7

1997 • 158 citations

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

2000 • 150 citations

Bipolar disorder and panic disorder in families: an analysis of chromosome 18 data.

1998 • 143 citations

Evidence of a predisposing locus to bipolar disorder on Xq24-q27.1 in an extended Finnish pedigree.

1995 • 142 citations

Maternal inheritance and chromosome 18 allele sharing in unilineal bipolar illness pedigrees

1996 • 138 citations

Behavioural and neurochemical effects of early social deprivation in the rat

1996 • 133 citations

Evaluation of linkage of bipolar affective disorder to chromosome 18 in a sample of 57 German families

1999 • 129 citations

On the parental origin of de novo mutation in man.

1991 • 119 citations

Polymorphic imprinting of the serotonin-2A (5-HT2A) receptor gene in human adult brain

1998 • 119 citations

Imprinted genes, cognition and behaviour

2000 • 118 citations

Interstitial duplications of chromosome region 15q11q13: Clinical and molecular characterization

1998 • 110 citations

Imprinting of a RING Zinc-Finger Encoding Gene in the Mouse Chromosome Region Homologous to the Prader-Willi Syndrome Genetic Region

1999 • 110 citations

Puppet‐like syndrome of Angelman

1991 • 110 citations

Phenotype–genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients

1999 • 105 citations

Towards a molecular understandingof Prader-Willi and Angelman syndromes

1999 • 103 citations

Linkage of Bipolar Affective Disorder to Chromosome 18 Markers in a New Pedigree Series

1997 • 100 citations

Strengths and weaknesses in the cognitive profile of youngsters with Prader‐Willi syndrome

1991 • 98 citations

Genome scan for linkage to Gilles de la Tourette syndrome

1999 • 98 citations

Genomewide survey of panic disorder

2001 • 93 citations

GABA-ergic neurons and the neurobiology of schizophrenia and other psychoses

1999 • 90 citations

Do we understand the evolution of genomic imprinting?

1998 • 86 citations

Prader-Willi Syndrome and Psychoses

1993 • 84 citations

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

1999 • 83 citations

Evidence for Uniparental, Paternal Expression of the Human GABAA Receptor Subunit Genes, Using Microcell-Mediated Chromosome Transfer

1997 • 81 citations

2-COP, a Novel Imprinted Gene on Chromosome 7q32, Defines a New Imprinting Cluster in the Human Genome

1999 • 80 citations

Female with autistic disorder and monosomy X (Turner syndrome): Parent-of-origin effect of the X chromosome

2000 • 79 citations

Angelman syndrome: a review of clinical and genetic aspects

1999 • 78 citations

Comparative Genome Analysis of the Mouse Imprinted GeneImpactand Its Nonimprinted Human HomologIMPACT:Toward the Structural Basis for Species-Specific Imprinting

2000 • 75 citations

Trinucleotide repeat disorders in humans: discussions of mechanisms and medical issues

1996 • 73 citations

Mitochondrial DNA Sequence Diversity in Bipolar Affective Disorder

2000 • 67 citations

Genomic imprinting in the brain

1997 • 65 citations

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

1999 • 65 citations

Sex of parent transmission effect in Tourette's syndrome

1997 • 62 citations

MR of the pituitary in patients with Prader-Willi syndrome: Size determination and imaging findings

1996 • 57 citations

Parent-of-origin effect in transmission of bipolar disorder

1996 • 57 citations

A model system to study genomic imprinting of human genes

1998 • 56 citations

Clinical evidence of genomic imprinting in Tourette's syndrome

1995 • 55 citations

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

1999 • 53 citations

Chromosome workshop: Chromosomes 11, 14, and 15

1999 • 52 citations

Identification of Novel Imprinted Transcripts in the Prader-Willi Syndrome and Angelman Syndrome Deletion Region: Further Evidence for Regional Imprinting Control

2000 • 50 citations

Mitochondrial Genetic Analyses Suggest Selection against Maternal Lineages in Bipolar Affective Disorder

1999 • 50 citations

Distinctive Pattern of Behavioral Functioning in Angelman Syndrome

1999 • 45 citations

Chromosomal Aberrations and Bipolar Affective Disorder

1994 • 45 citations

Autism, profound mental retardation and atypical bipolar disorder in a 33‐year‐old female with a deletion of 15q12

1990 • 43 citations

Anticipation and Imprinting in Schizophrenia

1997 • 43 citations

Evaluating the parent-of-origin effect in bipolar affective disorder

2000 • 36 citations

The Novel Gene, γ2-COP (COPG2), in the 7q32 Imprinted Domain Escapes Genomic Imprinting

2000 • 33 citations

Psychiatric genetics: progress, problems, and potential

1999 • 32 citations

Paternal transmission and anticipation in schizophrenia

1998 • 26 citations

Parent-of-origin effect and evidence for differential transmission in periodic catatonia

1998 • 20 citations

Angelman's syndrome: a neuropathological study

1992 • 20 citations

Genotnic imprinting in the mouse: possible final analysis

1997 • 14 citations

Human homolog of the mouse imprinted gene Impact resides at the pericentric region of chromosome 18 within the critical region for bipolar affective disorder

2000 • 14 citations

Parent-of-origin effect in panic disorder

1999 • 12 citations

Genes and social skills

1997 • 11 citations

Assessment of parent-of-origin effect in familiesunlineally affected with panic disorder-agoraphobia

1999 • 6 citations

Strauch et al reply

2000 • 4 citations

Deleted Work

1955 • 0 citations