(Q35226155)

English

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

scientific article

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scholarly article

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Europe PubMed Central

7 August 2017

1 reference

Europe PubMed Central

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 (English)

1 reference

Europe PubMed Central

7 August 2017

David N. Cooper

1

1 reference

Europe PubMed Central

7 August 2017

2

1 reference

Europe PubMed Central

7 August 2017

Hildegard Kehrer-Sawatzki

5

object named as

Hildegard Kehrer-Sawatzki

1 reference

Europe PubMed Central

7 August 2017

Karen M Vasquez

4

object named as

Karen M Vasquez

1 reference

Europe PubMed Central

7 August 2017

author name string

Claude Férec

3

1 reference

Europe PubMed Central

7 August 2017

Jian-Min Chen

6

1 reference

Europe PubMed Central

7 August 2017

publication date

2 September 2011

1 reference

Europe PubMed Central

7 August 2017

1 reference

Europe PubMed Central

7 August 2017

32

1 reference

Europe PubMed Central

7 August 2017

1075-1099

1 reference

Europe PubMed Central

7 August 2017

10

1 reference

Europe PubMed Central

7 August 2017

DNA dynamics is likely to be a factor in the genomic nucleotide repeats expansions related to diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Impact of chromatin structure on sequence variability in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Replication-associated mutational asymmetry in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Substitution patterns are under different influences in primates and rodents

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Mapping copy number variation by population-scale genome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Non-B DNA-forming sequences and WRN deficiency independently increase the frequency of base substitution in human cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

DNA polymerases and cancer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Genome organization influences partner selection for chromosomal rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Meiotic recombination favors the spreading of deleterious mutations in human populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

A human genome structural variation sequencing resource reveals insights into mutational mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

The high fidelity and unique error signature of human DNA polymerase epsilon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Mechanisms of trinucleotide repeat instability during human development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Characterization of LINE-1 ribonucleoprotein particles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Identification of copy number variation hotspots in human populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Context dependent substitution biases vary within the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

DNMT3L modulates significant and distinct flanking sequence preference for DNA methylation by DNMT3A and DNMT3B in vivo.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Variable tandem repeats accelerate evolution of coding and regulatory sequences.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Sequence dependence of DNA bending rigidity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Collaboration and competition between DNA double-strand break repair pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

What is a microsatellite: a computational and experimental definition based upon repeat mutational behavior at A/T and GT/AC repeats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

The genome is the perfect imperfect machine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

A time-invariant principle of genome evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Natural mutagenesis of human genomes by endogenous retrotransposons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Mobile interspersed repeats are major structural variants in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

LINE-1 retrotransposition activity in human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Patterns of nucleotides that flank substitutions in human orthologous genes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Human base excision repair creates a bias toward -1 frameshift mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

DNA repair in mammalian mitochondria: Much more than we thought?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Genomic rearrangements in inherited disease and cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

DNA curvature and flexibility in vitro and in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Colloquium paper: footprints of nonsentient design inside the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

The human mitochondrial replication fork in health and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Structural insight into the sequence dependence of nucleosome positioning

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Structure-based analysis of DNA sequence patterns guiding nucleosome positioning in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Energy crosstalk between DNA lesions: implications for allosteric coupling of DNA repair and triplet repeat expansion pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a fragile X premutation mouse model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Ku regulates the non-homologous end joining pathway choice of DNA double-strand break repair in human somatic cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Mitotic homologous recombination maintains genomic stability and suppresses tumorigenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

LAMP2 microdeletions in patients with Danon disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Dynamic changes in the human methylome during differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Insertion and deletion processes in recent human history

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

R loops stimulate genetic instability of CTG.CAG repeats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Role of oxidatively induced DNA lesions in human pathogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Structural variation in the human genome and its role in disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Prdm9 controls activation of mammalian recombination hotspots

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Alu repeats increase local recombination rates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Evidence that localized variation in primate sequence divergence arises from an influence of nucleosome placement on DNA repair.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Human DNA methylomes at base resolution show widespread epigenomic differences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Triplet repeat length bias and variation in the human transcriptome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

The impact of retrotransposons on human genome evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

The evolution of human segmental duplications and the core duplicon hypothesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Functional analysis of 5-lipoxygenase promoter repeat variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

L1 retrotransposition in human neural progenitor cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Biased gene conversion and the evolution of mammalian genomic landscapes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Down-regulation of epidermal growth factor receptor by selective expansion of a 5'-end regulatory dinucleotide repeat in colon cancer with microsatellite instability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Fork stalling and template switching as a mechanism for polyalanine tract expansion affecting the DYC mutant of HOXD13, a new murine model of synpolydactyly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Coordinating DNA polymerase traffic during high and low fidelity synthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Multiplex padlock targeted sequencing reveals human hypermutable CpG variations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Inverted duplications deletions: underdiagnosed rearrangements??

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Understanding what determines the frequency and pattern of human germline mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

L1 retrotransposition occurs mainly in embryogenesis and creates somatic mosaicism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Duplication hotspots, rare genomic disorders, and common disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Mobile elements create structural variation: analysis of a complete human genome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Characterization of six human disease-associated inversion polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Mutational spectra of human cancer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Sequence context-specific mutagenesis and base excision repair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Molecular mechanisms underlying polyalanine diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Sequence context effect for hMSH2-hMSH6 mismatch-dependent activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Cryptic variation in the human mutation rate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

A microhomology-mediated break-induced replication model for the origin of human copy number variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Microsatellite repeat instability and neurological disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Transcriptional processing of G4 DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

DNA structure-induced genomic instability in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Mechanisms for human genomic rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Mutation rates of TGFBR2 and ACVR2 coding microsatellites in human cells with defective DNA mismatch repair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

DNA polymerases and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

CpG dinucleotides and the mutation rate of non-CpG DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Mutations of different molecular origins exhibit contrasting patterns of regional substitution rate variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Characterization of Dnmt3b:thymine-DNA glycosylase interaction and stimulation of thymine glycosylase-mediated repair by DNA methyltransferase(s) and RNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

What causes mitochondrial DNA deletions in human cells?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Structure and mechanism for DNA lesion recognition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Germline rates of de novo meiotic deletions and duplications causing several genomic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

On the association between chromosomal rearrangements and genic evolution in humans and chimpanzees

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Gene conversion: mechanisms, evolution and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

IgH class switching and translocations use a robust non-classical end-joining pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

A novel complex deletion-insertion mutation mediated by Alu repetitive elements leads to lipoprotein lipase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Expandable DNA repeats and human disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Darwin's greatest discovery: design without designer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Non-B DNA conformations, mutagenesis and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Positional stability of single double-strand breaks in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

LINE-1 retrotransposition in human embryonic stem cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Trinucleotide Repeat Disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Directionality of point mutation and 5-methylcytosine deamination rates in the chimpanzee genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Spatial genome organization in the formation of chromosomal translocations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

A unique error signature for human DNA polymerase nu

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

The enigmatic thymine DNA glycosylase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Characterization of pre-insertion loci of de novo L1 insertions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

An initial map of insertion and deletion (INDEL) variation in the human genome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

DNA precursor metabolism and genomic stability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Primate segmental duplications: crucibles of evolution, diversity and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Chromosomal translocations mediated by palindromic DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Length and pH-dependent energetics of (CCG)n and (CGG)n trinucleotide repeats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Cytosine methylation and DNA repair

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Mutagenesis at methylated CpG sequences.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

dbRIP: a highly integrated database of retrotransposon insertion polymorphisms in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Genetic variation affects de novo translocation frequency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Z-DNA-forming sequences generate large-scale deletions in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

A histone H3 methyltransferase controls epigenetic events required for meiotic prophase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Genomic rearrangements by LINE-1 insertion-mediated deletion in the human and chimpanzee lineages

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Mitochondrial DNA mutations in human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Role of replication and CpG methylation in fragile X syndrome CGG deletions in primate cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Breakpoints of gross deletions coincide with non-B DNA conformations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Continued colonization of the human genome by mitochondrial DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Naturally occurring H-DNA-forming sequences are mutagenic in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Non-B DNA conformations, genomic rearrangements, and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Error-prone replication of oxidatively damaged DNA by a high-fidelity DNA polymerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Two direct repeats cause most human mtDNA deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Destabilization of tetraplex structures of the fragile X repeat sequence (CGG)n is mediated by homolog-conserved domains in three members of the hnRNP family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

A model for initial DNA lesion recognition by NER and MMR based on local conformational flexibility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

The thermodynamics of DNA structural motifs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Occurrence and consequences of coding sequence insertions and deletions in Mammalian genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Patterns of insertions and their covariation with substitutions in the rat, mouse, and human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Mobile elements: drivers of genome evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

DNA replication fidelity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Context of deletions and insertions in human coding sequences.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Mitochondrial DNA-like sequences in the nucleus (NUMTs): insights into our African origins and the mechanism of foreign DNA integration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Eucaryotic genome evolution through the spontaneous duplication of large chromosomal segments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

DNA bending and unbending by MutS govern mismatch recognition and specificity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Replication Inhibitors Modulate Instability of an Expanded Trinucleotide Repeat at the Myotonic Dystrophy Type 1 Disease Locus in Human Cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Patterns of nucleotide substitution, insertion and deletion in the human genome inferred from pseudogenes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Human DNA polymerase kappa uses template-primer misalignment as a novel means for extending mispaired termini and for generating single-base deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Theoretical analysis of mutation hotspots and their DNA sequence context specificity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Hot L1s account for the bulk of retrotransposition in the human population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Replication and expansion of trinucleotide repeats in yeast

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Neighboring-nucleotide effects on single nucleotide polymorphisms: a study of 2.6 million polymorphisms across the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Role of DNA flexibility in sequence-dependent activity of uracil DNA glycosylase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Recent segmental duplications in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Sequence dependent instability of mononucleotide microsatellites in cultured mismatch repair proficient and deficient mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Initial sequencing and analysis of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Similarities in sunlight-induced mutational spectra of CpG-methylated transgenes and the p53 gene in skin cancer point to an important role of 5-methylcytosine residues in solar UV mutagenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Estimate of the mutation rate per nucleotide in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Non-CpG methylation is prevalent in embryonic stem cells and may be mediated by DNA methyltransferase 3a.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Thymine-DNA glycosylase and G to A transition mutations at CpG sites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Understanding the molecular basis of fragile X syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Coupled leading- and lagging-strand synthesis of mammalian mitochondrial DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Recombinant human DNA (cytosine-5) methyltransferase. I. Expression, purification, and comparison of de novo and maintenance methylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

The thymine glycosylase MBD4 can bind to the product of deamination at methylated CpG sites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Constitutively methylated CpG dinucleotides as mutation hot spots in the retinoblastoma gene (RB1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Flexible DNA: genetically unstable CTG.CAG and CGG.CCG from human hereditary neuromuscular disease genes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Cytosine methylation determines hot spots of DNA damage in the human P53 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

The rate of hydrolytic deamination of 5-methylcytosine in double-stranded DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Effect of DNA cytosine methylation upon deamination-induced mutagenesis in a natural target sequence in duplex DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

CpNpG methylation in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Triplex DNA structures.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

CGG repeats associated with DNA instability and chromosome fragility form structures that block DNA synthesis in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Chi hotspots of generalized recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Homology requirement for efficient gene conversion between duplicated chromosomal sequences in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

The CpG dinucleotide and human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

The chemistry and biology of unusual DNA structures adopted by oligopurine.oligopyrimidine sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Misalignment-mediated DNA synthesis errors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

High frequency mutagenesis by a DNA methyltransferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

Disruption of the APC gene by a retrotransposal insertion of L1 sequence in a colon cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

13 July 2018

CpG dinucleotides are mutation hot spots in phenylketonuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

HIGM syndrome caused by insertion of an AluYb8 element in exon 1 of the CD40LG gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Recombinant Human DNA (Cytosine-5) Methyltransferase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

HIF-1 regulates heritable variation and allele expression phenotypes of the macrophage immune response gene SLC11A1 from a Z-DNA forming microsatellite.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Alu retrotransposition-mediated deletion.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Copy number variation at the breakpoint region of isochromosome 17q.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

ATR homolog Mec1 promotes fork progression, thus averting breaks in replication slow zones.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Detection of two Alu insertions in the CFTR gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

CpG/CpNpG motifs in the coding region are preferred sites for mutagenesis in the breast cancer susceptibility genes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Nuclear magnetic resonance investigation of primer--template models: formation of a pyrimidine bulge upon misincorporation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

NMR investigation of DNA primer-template models: guanine templates are less prone to strand slippage upon misincorporation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Sequence-dependent nucleosome positioning

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Two independent retrotransposon insertions at the same site within the coding region of BTK.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Y-chromosomal microsatellite mutation rates: differences in mutation rate between and within loci.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Misalignment-mediated DNA polymerase beta mutations: comparison of microsatellite and frame-shift error rates using a forward mutation assay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Computation biology: evolution plays dice.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

A novel mitochondrial DNA-like sequence insertion polymorphism in Intron I of the FOXO1A gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Transcription-associated mutational asymmetry in mammalian evolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Wide variations in neighbor-dependent substitution rates.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Mutational spectrum in the recent human genome inferred by single nucleotide polymorphisms.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

In polymorphic genomic regions indels cluster with nucleotide polymorphism: Quantum Genomics.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

The majority of recent short DNA insertions in the human genome are tandem duplications.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Evaluation of the effect of CpG hypermutability on human codon substitution.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

A meta-analysis of nonsense mutations causing human genetic disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Transcription-induced mutational strand bias and its effect on substitution rates in human genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Increased negative superhelical density in vivo enhances the genetic instability of triplet repeat sequences.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Analysis of 22 deletion breakpoints in dystrophin intron 49.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Regional genomic instability predisposes to complex dystrophin gene rearrangements.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Molecular studies of an ependymoma-associated constitutional t(1;22)(p22;q11.2).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

5-Methylcytosine as an Endogenous Mutagen in the Human LDL Receptor and p53 Genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Diverse chromosome breakage mechanisms underlie subtelomeric rearrangements, a common cause of mental retardation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Contribution of opening and bending dynamics to specific recognition of DNA damage

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Differential gene expression of mammalian SPO11/TOP6A homologs during meiosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Phylogenetic estimation of context-dependent substitution rates by maximum likelihood

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

The Human Gene Mutation Database: 2008 update

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

To slip or skip, visualizing frameshift mutation dynamics for error-prone DNA polymerases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Sequence context at human single nucleotide polymorphisms: overrepresentation of CpG dinucleotide at polymorphic sites and suppression of variation in CpG islands

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

L1 retrotransposition can occur early in human embryonic development.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Identification of a novel large F9 gene mutation-an insertion of an Alu repeated DNA element in exon e of the factor 9 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

The influence of neighboring-nucleotide composition on single nucleotide polymorphisms (SNPs) in the mouse genome and its comparison with human SNPs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

DNA repair fidelity of base excision repair pathways in human cell extracts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Sequence context analysis of 8.2 million single nucleotide polymorphisms in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Functional promoter polymorphisms of macrophage migration inhibitory factor in peptic ulcer diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

26 September 2018

Mitochondrial DNA mutations in disease and aging.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

26 September 2018

The causes of mutation accumulation in mitochondrial genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

26 September 2018

Sec1-FUT2-Sec1 hybrid allele generated by interlocus gene conversion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

26 September 2018

Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

26 September 2018

The DNA polymerase beta replication error spectrum in the adenomatous polyposis coli gene contains human colon tumor mutational hotspots.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

26 September 2018

Haemophilia B due to a de novo insertion of a human-specific Alu subfamily member within the coding region of the factor IX gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177966

26 September 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Complex gene rearrangements caused by serial replication slippage

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Intrachromosomal serial replication slippage intransgives rise to diverse genomic rearrangements involving inversions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: Further evidence for possible bias in retroposon integration

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21557

21 January 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proximity of chromosomal loci that participate in radiation-induced rearrangements in human cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Large intragenic deletions of the NF2 gene: breakpoints and associated phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mouse model of human L1 retrotransposition

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A triplex-forming sequence from the human c-MYC promoter interferes with DNA transcription

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The majority of methylated deoxycytidines in human DNA are not in the CpG dinucleotide

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homonucleotide tracts, short repeats and CpG/CpNpG motifs are frequent sites for heterogeneous mutations in the neurofibromatosis type 1 (NF1) tumour-suppressor gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sticky DNA: in vivo formation in E. coli and in vitro association of long GAA*TTC tracts to generate two independent supercoiled domains

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long AT-rich palindromes and the constitutional t(11;22) breakpoint

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA and genetic disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Shortened microsatellite d(CA)21 sequence down-regulates promoter activity of matrix metalloproteinase 9 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The influence of nearest neighbors on the rate and pattern of spontaneous point mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of frequencies and distribution of single nucleotide insertions/deletions in the human genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CpG dinucleotides are "hotspots" for mutation in the antithrombin III gene. Twelve variants identified using the polymerase chain reaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chi, a promoter of generalized recombination in lambda phage, is present in immunoglobulin genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion of entire HLA-A gene accompanied by an insertion of a retrotransposon

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Estimation of DNA Sequence Context-dependent Mutation Rates Using Primate Genomic Sequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unpaired structures in SCA10 (ATTCT)n.(AGAAT)n repeats

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for two preferred hairpin folding patterns in d(CGG)·d(CCG) repeat tracts in vivo 1 1Edited by I. Tinoco

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recombination hotspot in NF1 microdeletion patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transition mutations at CpG dinucleotides are the most frequent in vivo spontaneous single-based substitution mutation in the human HPRT gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural analysis of strand misalignment during DNA synthesis by a human DNA polymerase

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21853507

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.21557

1 reference

Europe PubMed Central

7 August 2017

1 reference

Europe PubMed Central

7 August 2017

1 reference

Europe PubMed Central

7 August 2017

ResearchGate publication ID

0 references

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