On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease

Structure-based Analysis of DNA Sequence Patterns Guiding Nucleosome Positioningin vitro

(2014) Feng Cui et al.   JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS

Bases adjacent to mononucleotide repeats show an increased single nucleotide polymorphism frequency in the human genome

(2011) K. J. Siddle et al.   BIOINFORMATICS

Substitution Patterns Are Under Different Influences in Primates and Rodents

(2011) Yves Clément et al.   Genome Biology and Evolution

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

(2011) Z. Ou et al.   GENOME RESEARCH

Evaluation of microsatellite variation in the 1000 Genomes Project pilot studies is indicative of the quality and utility of the raw data and alignments

(2011) L.J. McIver et al.   GENOMICS

Maternal germline-specific effect of DNA ligase I on CTG/CAG instability

(2011) S. Tome et al.   HUMAN MOLECULAR GENETICS

FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation

(2011) George Koumbaris et al.   HUMAN MOLECULAR GENETICS

Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes

(2011) Dobril Ivanov et al.   HUMAN MUTATION

Non-B DNA-forming Sequences and WRN Deficiency Independently Increase the Frequency of Base Substitution in Human Cells

(2011) Albino Bacolla et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Replication-Associated Mutational Asymmetry in the Human Genome

(2011) Chun-Long Chen et al.   MOLECULAR BIOLOGY AND EVOLUTION

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

Impact of chromatin structure on sequence variability in the human genome

(2011) Michael Y Tolstorukov et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

A functional tetranucleotide (AAAT) polymorphism in an Alu element in the NF1 gene is associated with mental retardation

(2011) Sylviane Marouillat Védrine et al.   NEUROSCIENCE LETTERS

DNA Dynamics Is Likely to Be a Factor in the Genomic Nucleotide Repeats Expansions Related to Diseases

(2011) Boian S. Alexandrov et al.   PLoS One

Identification of Copy Number Variation Hotspots in Human Populations

(2010) Wenqing Fu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Common Molecular Mechanism Underlies Two Phenotypically Distinct 17p13.1 Microdeletion Syndromes

(2010) Adam Shlien et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability

(2010) Feng Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21)

(2010) Molly B. Sheridan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome

(2010) Holly H. Hobart et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Variable Tandem Repeats Accelerate Evolution of Coding and Regulatory Sequences

(2010) Rita Gemayel et al.   Annual Review of Genetics

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

Features of vulnerable plaques and clinical outcome of UA/NSTEMI: Relationship with matrix metalloproteinase functional polymorphisms

(2010) Nicola Fiotti et al.   ATHEROSCLEROSIS

The human mitochondrial replication fork in health and disease

(2010) Sjoerd Wanrooij et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

CGG repeats associated with fragile X chromosome form left-handed Z-DNA structure

(2010) Daniel Renčiuk et al.   BIOPOLYMERS

Cells expressing FLT3/ITD mutations exhibit elevated repair errors generated through alternative NHEJ pathways: implications for genomic instability and therapy

(2010) J. Fan et al.   BLOOD

Context dependent substitution biases vary within the human genome

(2010) P Andrew Nevarez et al.   BMC BIOINFORMATICS

Patterns of nucleotides that flank substitutions in human orthologous genes

(2010) Lei Ma et al.   BMC GENOMICS

Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia

(2010) Radan Goldmann et al.   BMC Medical Genetics

Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature

(2010) Hoa T Truong et al.   BMC Medical Genetics

A long AAAG repeat allele in the 5′ UTR of the ERR-γ gene is correlated with breast cancer predisposition and drives promoter activity in MCF-7 breast cancer cells

(2010) C. L. Galindo et al.   BREAST CANCER RESEARCH AND TREATMENT

A Human Genome Structural Variation Sequencing Resource Reveals Insights into Mutational Mechanisms

(2010) Jeffrey M. Kidd et al.   CELL

LINE-1 Retrotransposition Activity in Human Genomes

(2010) Christine R. Beck et al.   CELL

Mobile Interspersed Repeats Are Major Structural Variants in the Human Genome

(2010) Cheng Ran Lisa Huang et al.   CELL

Natural Mutagenesis of Human Genomes by Endogenous Retrotransposons

(2010) Rebecca C. Iskow et al.   CELL

LAMP2 Microdeletions in Patients With Danon Disease

(2010) Zhao Yang et al.   Circulation-Cardiovascular Genetics

The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements

(2010) H Kurahashi et al.   CLINICAL GENETICS

Recurrent Inversion Events at 17q21.31 Microdeletion Locus Are Linked to the MAPT H2 Haplotype

(2010) P.N. Rao et al.   CYTOGENETIC AND GENOME RESEARCH

Dynamic link of DNA demethylation, DNA strand breaks and repair in mouse zygotes

(2010) Mark Wossidlo et al.   EMBO JOURNAL

Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation

(2010) Tanel Punga et al.   EMBO Molecular Medicine

Mitochondrial DNA and genetic disease

(2010) Kim J. Krishnan et al.   Essays in Biochemistry

Cytogenetic molecular delineation of a terminal 18q deletion suggesting neo-telomere formation

(2010) Leslie Domenici Kulikowski et al.   European Journal of Medical Genetics

What Is a Microsatellite: A Computational and Experimental Definition Based upon Repeat Mutational Behavior at A/T and GT/AC Repeats

(2010) Yogeshwar D. Kelkar et al.   Genome Biology and Evolution

High-throughput sequencing reveals extensive variation in human-specific L1 content in individual human genomes

(2010) A. D. Ewing et al.   GENOME RESEARCH

The mutational spectrum of non-CpG DNA varies with CpG content

(2010) J.-C. Walser et al.   GENOME RESEARCH

Dynamic changes in the human methylome during differentiation

(2010) L. Laurent et al.   GENOME RESEARCH

Presence of 5-methylcytosine in CpNpG trinucleotides in the human genome

(2010) Juna Lee et al.   GENOMICS

Breakpoint determination of 15 large deletions in Peutz–Jeghers subjects

(2010) Nicoletta Resta et al.   HUMAN GENETICS

A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats

(2010) F. Bena et al.   HUMAN MOLECULAR GENETICS

The nucleotide composition of microsatellites impacts both replication fidelity and mismatch repair in human colorectal cells

(2010) Christoph Campregher et al.   HUMAN MOLECULAR GENETICS

Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome

(2010) S. A. Scott et al.   HUMAN MOLECULAR GENETICS

Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci

(2010) Sylvia Quemener et al.   HUMAN MUTATION

Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions

(2010) Femke Hannes et al.   HUMAN MUTATION

Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions

(2010) Angelika C. Roehl et al.   HUMAN MUTATION

Impact of DNA physical properties on local sequence bias of human mutation

(2010) Sigve Nakken et al.   HUMAN MUTATION

A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2

(2010) Kathrin Bengesser et al.   HUMAN MUTATION

Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)

(2010) Ludwine Messiaen et al.   HUMAN MUTATION

Meiotic recombination favors the spreading of deleterious mutations in human populations

(2010) Anamaria Necşulea et al.   HUMAN MUTATION

Human Base Excision Repair Creates a Bias Toward −1 Frameshift Mutations

(2010) Derek M. Lyons et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA

(2010) Hiroyuki Awano et al.   JOURNAL OF HUMAN GENETICS

Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder?

(2010) M. W. Wessels et al.   JOURNAL OF MEDICAL GENETICS

Energy Crosstalk between DNA Lesions: Implications for Allosteric Coupling of DNA Repair and Triplet Repeat Expansion Pathways

(2010) Jens Völker et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

Guanine quadruplex DNA structure restricts methylation of CpG dinucleotides genome-wide

(2010) Rashi Halder et al.   Molecular BioSystems

Identification and characterization of a novel homozygous deletion in the α-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB)

(2010) Kristen J. Champion et al.   MOLECULAR GENETICS AND METABOLISM

Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event

(2010) Monica Cozar et al.   MOLECULAR GENETICS AND METABOLISM

Role of oxidatively induced DNA lesions in human pathogenesis

(2010) Olga A. Sedelnikova et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

Epigenetic silencing of engineered L1 retrotransposition events in human embryonic carcinoma cells

(2010) Jose L. Garcia-Perez et al.   NATURE

H2AX prevents CtIP-mediated DNA end resection and aberrant repair in G1-phase lymphocytes

(2010) Beth A. Helmink et al.   NATURE

Replication-dependent instability at (CTG)•(CAG) repeat hairpins in human cells

(2010) Guoqi Liu et al.   Nature Chemical Biology

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

(2010) Francesca Antonacci et al.   NATURE GENETICS

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

(2010) Donald F Conrad et al.   NATURE GENETICS

PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans

(2010) Ingrid L Berg et al.   NATURE GENETICS

Mechanisms of trinucleotide repeat instability during human development

(2010) Cynthia T. McMurray   NATURE REVIEWS GENETICS

Mitotic homologous recombination maintains genomic stability and suppresses tumorigenesis

(2010) Mary Ellen Moynahan et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Repeat instability as the basis for human diseases and as a potential target for therapy

(2010) Arturo López Castel et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Alternative end-joining is suppressed by the canonical NHEJ component Xrcc4–ligase IV during chromosomal translocation formation

(2010) Deniz Simsek et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

CtIP promotes microhomology-mediated alternative end joining during class-switch recombination

(2010) Mieun Lee-Theilen et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

An essential role for CtIP in chromosomal translocation formation through an alternative end-joining pathway

(2010) Yu Zhang et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Inheritance of Charcot–Marie–Tooth disease 1A with rare nonrecurrent genomic rearrangement

(2010) Byung-Ok Choi et al.   NEUROGENETICS

Non-B DB: a database of predicted non-B DNA-forming motifs in mammalian genomes

(2010) R. Z. Cer et al.   NUCLEIC ACIDS RESEARCH

Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion

(2010) Naoya Morisada et al.   PEDIATRIC NEPHROLOGY

Measurements of spontaneous rates of mutations in the recent past and the near future

(2010) F. A. Kondrashov et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Insertion and Deletion Processes in Recent Human History

(2010) Per Sjödin et al.   PLoS One

Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes

(2010) Bekim Sadikovic et al.   PLoS One

Footprints of nonsentient design inside the human genome

(2010) J. C. Avise   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Isolated short CTG/CAG DNA slip-outs are repaired efficiently by hMutSβ, but clustered slip-outs are poorly repaired

(2010) Gagan B. Panigrahi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The genome is the perfect imperfect machine

(2010) R. W. Chapman   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Alternative end-joining catalyzes robust IgH locus deletions and translocations in the combined absence of ligase 4 and Ku70

(2010) C. Boboila et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sequence dependence of DNA bending rigidity

(2010) S. Geggier et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A time-invariant principle of genome evolution

(2010) S. De et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DNA curvature and flexibility in vitro and in vivo

(2010) Justin P. Peters et al.   QUARTERLY REVIEWS OF BIOPHYSICS

Prdm9 Controls Activation of Mammalian Recombination Hotspots

(2010) E. D. Parvanov et al.   SCIENCE

PRDM9 Is a Major Determinant of Meiotic Recombination Hotspots in Humans and Mice

(2010) F. Baudat et al.   SCIENCE

A mobile threat to genome stability: The impact of non-LTR retrotransposons upon the human genome

(2010) Miriam K. Konkel et al.   SEMINARS IN CANCER BIOLOGY

Genomic rearrangements in inherited disease and cancer

(2010) Jian-Min Chen et al.   SEMINARS IN CANCER BIOLOGY

Structural Insight into the Sequence Dependence of Nucleosome Positioning

(2010) Bin Wu et al.   STRUCTURE

Genome organization influences partner selection for chromosomal rearrangements

(2010) Patrick J. Wijchers et al.   TRENDS IN GENETICS

Ku Regulates the Non-Homologous End Joining Pathway Choice of DNA Double-Strand Break Repair in Human Somatic Cells

(2010) Farjana Fattah et al.   PLoS Genetics

Characterization of LINE-1 Ribonucleoprotein Particles

(2010) Aurélien J. Doucet et al.   PLoS Genetics

DNMT3L Modulates Significant and Distinct Flanking Sequence Preference for DNA Methylation by DNMT3A and DNMT3B In Vivo

(2010) Bethany L. Wienholz et al.   PLoS Genetics

Biased Gene Conversion and the Evolution of Mammalian Genomic Landscapes

(2009) Laurent Duret et al.   Annual Review of Genomics and Human Genetics

NMR Investigation of DNA Primer-Template Models: Guanine Templates Are Less Prone to Strand Slippage upon Misincorporation

(2009) Lai Man Chi et al.   BIOCHEMISTRY

Coordinating DNA polymerase traffic during high and low fidelity synthesis

(2009) Mark D. Sutton   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Microsatellite repeat instability and neurological disease

(2009) Judith R. Brouwer et al.   BIOESSAYS

Alu repeats increase local recombination rates

(2009) David J Witherspoon et al.   BMC GENOMICS

Down-regulation of Epidermal Growth Factor Receptor by Selective Expansion of a 5'-End Regulatory Dinucleotide Repeat in Colon Cancer with Microsatellite Instability

(2009) S. Baranovskaya et al.   CLINICAL CANCER RESEARCH

Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene

(2009) R Quental et al.   CLINICAL GENETICS

Inverted duplications deletions: underdiagnosed rearrangements??

(2009) O Zuffardi et al.   CLINICAL GENETICS

L1 retrotransposition occurs mainly in embryogenesis and creates somatic mosaicism

(2009) H. Kano et al.   GENES & DEVELOPMENT

Fork Stalling and Template Switching As a Mechanism for Polyalanine Tract Expansion Affecting the DYC Mutant of HOXD13, a New Murine Model of Synpolydactyly

(2009) O. Cocquempot et al.   GENETICS

Multiplex padlock targeted sequencing reveals human hypermutable CpG variations

(2009) J. B. Li et al.   GENOME RESEARCH

Mobile elements create structural variation: Analysis of a complete human genome

(2009) J. Xing et al.   GENOME RESEARCH

Ride the wavelet: A multiscale analysis of genomic contexts flanking small insertions and deletions

(2009) E. M. Kvikstad et al.   GENOME RESEARCH

Mutational spectra of human cancer

(2009) Gerd P. Pfeifer et al.   HUMAN GENETICS

Large intron 14 rearrangement in APC results in splice defect and attenuated FAP

(2009) Thérèse M. F. Tuohy et al.   HUMAN GENETICS

Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiency

(2009) Véronique Picard et al.   HUMAN GENETICS

Regional genomic instability predisposes to complex dystrophin gene rearrangements

(2009) Junko Oshima et al.   HUMAN GENETICS

Characterization of six human disease-associated inversion polymorphisms

(2009) Francesca Antonacci et al.   HUMAN MOLECULAR GENETICS

Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome

(2009) Svetlana A. Yatsenko et al.   HUMAN MOLECULAR GENETICS

Elucidation of the complex structure and origin of the human trypsinogen locus triplication

(2009) A. Chauvin et al.   HUMAN MOLECULAR GENETICS

Functional analysis of 5-lipoxygenase promoter repeat variants

(2009) Susanna Vikman et al.   HUMAN MOLECULAR GENETICS

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

(2009) Lisenka E.L.M. Vissers et al.   HUMAN MOLECULAR GENETICS

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

(2009) Claudia M.B. Carvalho et al.   HUMAN MOLECULAR GENETICS

Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes

(2009) Jian-Min Chen et al.   HUMAN MUTATION

Alu-Alurecombination underlies the vast majority of largeVHLgermline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients

(2009) Gerlind Franke et al.   HUMAN MUTATION

Gene conversion causing human inherited disease: Evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair

(2009) Nadia Chuzhanova et al.   HUMAN MUTATION

Alu-repeat-induced deletions within theNCF2gene causing p67-phox-deficient chronic granulomatous disease (CGD)

(2009) Marcus Gentsch et al.   HUMAN MUTATION

Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion

(2009) Hiroko Arai et al.   JOURNAL OF HUMAN GENETICS

Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy

(2009) A. M. B. Collie et al.   JOURNAL OF MEDICAL GENETICS

Evidence that Localized Variation in Primate Sequence Divergence Arises from an Influence of Nucleosome Placement on DNA Repair

(2009) H. Ying et al.   MOLECULAR BIOLOGY AND EVOLUTION

Transcriptional processing of G4 DNA

(2009) Silvia Tornaletti   MOLECULAR CARCINOGENESIS

Sequence context-specific mutagenesis and base excision repair

(2009) Katherine A. Donigan et al.   MOLECULAR CARCINOGENESIS

Every microsatellite is different: Intrinsic DNA features dictate mutagenesis of common microsatellites present in the human genome

(2009) Kristin A. Eckert et al.   MOLECULAR CARCINOGENESIS

Models for chromosomal replication-independent non-B DNA structure-induced genetic instability

(2009) Guliang Wang et al.   MOLECULAR CARCINOGENESIS

L1 retrotransposition in human neural progenitor cells

(2009) Nicole G. Coufal et al.   NATURE

Human DNA methylomes at base resolution show widespread epigenomic differences

(2009) Ryan Lister et al.   NATURE

Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library

(2009) Hugo Y K Lam et al.   NATURE BIOTECHNOLOGY

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

(2009) Feng Zhang et al.   NATURE GENETICS

Understanding what determines the frequency and pattern of human germline mutations

(2009) Norman Arnheim et al.   NATURE REVIEWS GENETICS

The impact of retrotransposons on human genome evolution

(2009) Richard Cordaux et al.   NATURE REVIEWS GENETICS

Molecular mechanisms underlying polyalanine diseases

(2009) C. Messaed et al.   NEUROBIOLOGY OF DISEASE

Sequence context effect for hMSH2-hMSH6 mismatch-dependent activation

(2009) A. Mazurek et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Triplet repeat length bias and variation in the human transcriptome

(2009) M. Molla et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

R loops stimulate genetic instability of CTG{middle dot}CAG repeats

(2009) Y. Lin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The causes of mutation accumulation in mitochondrial genomes

(2009) M. Neiman et al.   PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

Cryptic Variation in the Human Mutation Rate

(2009) Alan Hodgkinson et al.   PLOS BIOLOGY

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

(2009) P. J. Hastings et al.   PLoS Genetics

Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted region

(2008) Hildegard Kehrer-Sawatzki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Nuclear Magnetic Resonance Investigation of Primer−Template Models: Formation of a Pyrimidine Bulge upon Misincorporation†

(2008) Lai Man Chi et al.   BIOCHEMISTRY

Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype

(2008) G. Le Gac et al.   BLOOD

A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverted duplications

(2008) Maria Clara Bonaglia et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Evaluation of the effect of CpG hypermutability on human codon substitution

(2008) Kazuharu Misawa et al.   GENE

Copy number variation at the breakpoint region of isochromosome 17q

(2008) C. M.B. Carvalho et al.   GENOME RESEARCH

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

(2008) M. Bauters et al.   GENOME RESEARCH

CpG dinucleotides and the mutation rate of non-CpG DNA

(2008) J.-C. Walser et al.   GENOME RESEARCH

Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history

(2008) P. M. Kim et al.   GENOME RESEARCH

Chromosomal instability mediated by non-B DNA: Cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans

(2008) H. Inagaki et al.   GENOME RESEARCH

Transcription induces strand-specific mutations at the 5' end of human genes

(2008) P. Polak et al.   GENOME RESEARCH

Abundance and length of simple repeats in vertebrate genomes are determined by their structural properties

(2008) A. Bacolla et al.   GENOME RESEARCH

A meta-analysis of nonsense mutations causing human genetic disease

(2008) Matthew Mort et al.   HUMAN MUTATION

A gene conversion hotspot in the human growth hormone (GH1) gene promoter

(2008) Andreas Wolf et al.   HUMAN MUTATION

Rare mutations ofFGFR2causing apert syndrome: identification of the first partial gene deletion, and anAluelement insertion from a new subfamily

(2008) Elena G. Bochukova et al.   HUMAN MUTATION

Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency

(2008) Ayako Tabata et al.   JOURNAL OF HUMAN GENETICS

Characterization of Dnmt3b:Thymine-DNA Glycosylase Interaction and Stimulation of Thymine Glycosylase-Mediated Repair by DNA Methyltransferase(s) and RNA

(2008) Michael J. Boland et al.   JOURNAL OF MOLECULAR BIOLOGY

Sequence-dependent Nucleosome Positioning

(2008) Ho-Ryun Chung et al.   JOURNAL OF MOLECULAR BIOLOGY

DNA Structure-induced Genomic Instability In Vivo

(2008) Guliang Wang et al.   JNCI-Journal of the National Cancer Institute

Transcription-Induced Mutational Strand Bias and Its Effect on Substitution Rates in Human Genes

(2008) C. F. Mugal et al.   MOLECULAR BIOLOGY AND EVOLUTION

Evidence for a predominant role of oxidative damage in germline mutation in mammals

(2008) Arlin Stoltzfus   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Single-nucleotide mutation rate increases close to insertions/deletions in eukaryotes

(2008) Dacheng Tian et al.   NATURE

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

(2008) Andrew J Sharp et al.   NATURE GENETICS

What causes mitochondrial DNA deletions in human cells?

(2008) Kim J Krishnan et al.   NATURE GENETICS

A common sequence motif associated with recombination hot spots and genome instability in humans

(2008) Simon Myers et al.   NATURE GENETICS

DNA polymerases and human disease

(2008) Lawrence A. Loeb et al.   NATURE REVIEWS GENETICS

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutation Rates of TGFBR2 and ACVR2 Coding Microsatellites in Human Cells with Defective DNA Mismatch Repair

(2008) Heekyung Chung et al.   PLoS One

Mutations of Different Molecular Origins Exhibit Contrasting Patterns of Regional Substitution Rate Variation

(2008) Navin Elango et al.   PLoS Computational Biology

Sequence context affects the rate of short insertions and deletions in flies and primates

(2008) Amos Tanay et al.   GENOME BIOLOGY

Detection of two Alu insertions in the CFTR gene

(2007) Jian-Min Chen et al.   Journal of Cystic Fibrosis