Citation Impact
Citing Papers
A Decade of Molecular Studies of Fragile X Syndrome
2002
Epigenetic Repression of DNA Mismatch Repair by Inflammation and Hypoxia in Inflammatory Bowel Disease–Associated Colorectal Cancer
2009 StandoutNobel
Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European LeukemiaNet
2009 Standout
Chromosome Abnormalities and Genetic Counseling
2011
Understanding Command and Control
2006 Standout
Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles
1994
Characterization of the full fragile X syndrome mutation in fetal gametes
1997
The DNA-damage response in human biology and disease
2009 StandoutNature
Cytogenetic, Molecular Genetic, and Clinical Characteristics of Acute Myeloid Leukemia With a Complex Karyotype
2008
Spiking of Contemporary Human Template DNA with Ancient DNA Extracts Induces Mutations Under PCR and Generates Nonauthentic Mitochondrial Sequences
2004
The contribution of <i>cis</i>-elements to disease-associated repeat instability: clinical and experimental evidence
2003
Role of ROS and RNS Sources in Physiological and Pathological Conditions
2016 Standout
Large-scale brain networks in cognition: emerging methods and principles
2010 Standout
Role of Replication and CpG Methylation in Fragile X Syndrome CGG Deletions in Primate Cells
2005
The neural and computational bases of semantic cognition
2016 Standout
Using PAC nested deletions to order contigs and microsatellite markers at the high repetitive sequence containing Npr3 gene locus
2001 StandoutNobel
Neocentromeres: Role in Human Disease, Evolution, and Centromere Study
2002
The Neandertal genome and ancient DNA authenticity
2009 StandoutNobel
Extensive Human DNA Contamination in Extracts from Ancient Dog Bones and Teeth
2005
Reduced structural connectivity in ventral visual cortex in congenital prosopagnosia
2008
Slipped-strand DNAs formed by long (CAG)middle dot(CTG) repeats: slipped-out repeats and slip-out junctions
2002
Unexpected association between joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type and obsessive–compulsive personality disorder
2013
Temporal Patterns of Nucleotide Misincorporations and DNA Fragmentation in Ancient DNA
2012 StandoutNobel
Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain
1993
Fertility and infertility: Definition and epidemiology
2018 Standout
The C. elegans genome sequencing project: a beginning
1992 StandoutNatureNobel
Myocardial Substrate Metabolism in the Normal and Failing Heart
2005 Standout
Microsatellite repeat instability and neurological disease
2009
The DMPK Gene of Severely Affected Myotonic Dystrophy Patients Is Hypermethylated Proximal to the Largely Expanded CTG Repeat
1998
Bidirectional transcription stimulates expansion and contraction of expanded (CTG)•(CAG) repeats
2010
Understanding the molecular basis of fragile X syndrome
2000
Functional MRI Reveals Compromised Neural Integrity of the Face Processing Network in Congenital Prosopagnosia
2009
Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability
2000
Repeat instability: mechanisms of dynamic mutations
2005
MutLα and Proliferating Cell Nuclear Antigen Share Binding Sites on MutSβ
2010 StandoutNobel
Unique features of long non-coding RNA biogenesis and function
2015 Standout
Length of CTG·CAG repeats determines the influence of mismatch repair on genetic instability 1 1Edited by M. Yaniv
2000
Local protein synthesis and its role in synapse-specific plasticity
2000 StandoutNobel
Features of trinucleotide repeat instability in vivo
2008
Transcriptional integration of mitochondrial biogenesis
2012
Health Supervision for Children With Down Syndrome
2011 Standout
Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome
2004
Nuclear activators and coactivators in mammalian mitochondrial biogenesis
2002
The integration of negative affect, pain and cognitive control in the cingulate cortex
2011 Standout
Cancer-related inflammation, the seventh hallmark of cancer: links to genetic instability
2009 Standout
Analysis of one million base pairs of Neanderthal DNA
2006 StandoutNatureNobel
Transgenerational epigenetic inheritance in health and disease
2008
DNA methylation and human disease
2005 Standout
Genic microsatellite markers in plants: features and applications
2004 Standout
Model of autism: increased ratio of excitation/inhibition in key neural systems
2003 Standout
PCNA function in the activation and strand direction of MutLα endonuclease in mismatch repair
2010 StandoutNobel
The Fibroblast Growth Factor signaling pathway
2015 Standout
A Mitochondrial Paradigm of Metabolic and Degenerative Diseases, Aging, and Cancer: A Dawn for Evolutionary Medicine
2005 Standout
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
1991 Standout
Patterns of nucleotide misincorporations during enzymatic amplification and direct large-scale sequencing of ancient DNA
2006 StandoutNobel
Functional specificity in the human brain: A window into the functional architecture of the mind
2010
Separating endogenous ancient DNA from modern day contamination in a Siberian Neandertal
2014 StandoutNobel
Patterns of damage in genomic DNA sequences from a Neandertal
2007 StandoutNobel
Genetic Analyses from Ancient DNA
2004 StandoutNobel
Review Paper. Ancient DNA
2004 Standout
Abnormal dendritic spines in fragile X knockout mice: Maturation and pruning deficits
1997 Standout
Trinucleotide Repeats: Mechanisms and Pathophysiology
2000
Methylation-Dependent Gene Silencing Induced by Interleukin 1β via Nitric Oxide Production
1999
DNA Mismatch Repair: Functions and Mechanisms
2005 StandoutNobel
Natural history of seminiferous tubule degeneration in Klinefelter syndrome
2005
Physiological adaptations to interval training and the role of exercise intensity
2016 Standout
Multiple Pathways of Recombination Induced by Double-Strand Breaks in Saccharomyces cerevisiae
1999 Standout
Psychiatric and psychological aspects in the Ehlers–Danlos syndromes
2017 Standout
Coordinated reduction of genes of oxidative metabolism in humans with insulin resistance and diabetes: Potential role ofPGC1andNRF1
2003 Standout
Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome
1991 Science
Assessing the Fidelity of Ancient DNA Sequences Amplified From Nuclear Genes
2005
Lack of phylogeography in European mammals before the last glaciation
2004 StandoutNobel
The Emergence of Ornaments and Art: An Archaeological Perspective on the Origins of “Behavioral Modernity”
2007 Standout
Extrahelical (CAG)/(CTG) triplet repeat elements support proliferating cell nuclear antigen loading and MutLα endonuclease activation
2013 StandoutNobel
Structural Dynamics of Eukaryotic Chromosome Evolution
2003 StandoutScience
Evolutionary Comparison of the Mechanism of DNA Cleavage with Respect to Immune Diversity and Genomic Instability
2012 StandoutNobel
Oxidative Stress: A Key Modulator in Neurodegenerative Diseases
2019 Standout
Mouse neurexin-1α deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
2009 StandoutNobel
Long CTG Tracts from the Myotonic Dystrophy Gene Induce Deletions and Rearrangements during Recombination at the APRT Locus in CHO Cells
2003
Works of Ingo Kennerknecht being referenced
Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families
1993
Hereditary Prosopagnosia: the First Case Series
2007
How can the frequency of false‐negative findings in prenatal diagnoses of fra(X) be reduced: Experience with first trimester chorionic Villi sampling
1991
Novel der(1)t(1;19) in two patients with myeloid neoplasias
2002
Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype
2000
Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: evidence for a causal involvement of methyl-directed DNA mismatch repair in triplet repeat stability
1995
Maternal transmission of ring chromosome 21
1990
Clinical utility gene card for: Ehlers–Danlos syndrome types I–VII and variants - update 2012
2012
Characterization of FMR1 Promoter Elements by In Vivo-Footprinting Analysis
1997
Mosaic status in lymphocytes of infertile men with or without Klinefelter syndrome
2005
PCR-Induced Sequence Alterations Hamper the Typing of Prehistoric Bone Samples for Diagnostic Achondroplasia Mutations
2004
Multicolor Karyotyping in Acute Myeloid Leukemia
2003
Genotype mosaicism in fragile X fetal tissues
1992