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List of works by David N. Cooper

'Sifting the significance from the data' - the impact of high-throughput genomic technologies on human genetics and health care

scientific article (publication date: 2 August 2012)

5' splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity

scientific article published on 05 May 2020

A Gla domain mutation (Arg 15???Trp) in the protein C (PROC) gene causing type 2 protein C deficiency and recurrent venous thrombosis

scientific article published on 01 April 1993

A New and More Accurate Estimate of the Rate of Concurrent Tandem-Base Substitution Mutations in the Human Germline: ∼0.4% of the Single-Nucleotide Substitution Mutation Rate

article

A Role for Non-B DNA Forming Sequences in Mediating Microlesions Causing Human Inherited Disease

scientific article published on 15 October 2015

A comprehensive list of cloned human DNA sequences

scientific article published on April 1990

A comprehensive list of cloned human DNA sequences

scientific article published on January 1987

A comprehensive list of cloned human DNA sequences ⬇️

scientific article published on January 1, 1988

A comprehensive list of cloned human DNA sequences

scientific article published in January 1989

A comprehensive list of cloned human DNA sequences--1990 update

scientific article published on April 1991

A comprehensive list of cloned human DNA sequences--1991 update

scientific article published on May 1992

A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients

scientific article (publication date: 2013)

A critical view of the general public’s awareness and physicians’ opinion of the trends and potential pitfalls of genetic testing in Greece

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

scientific article published in February 2009

A homozygous deletion/insertion mutation in the protein C (PROC) gene causing neonatal Purpura fulminans: prenatal diagnosis in an at-risk pregnancy

scientific article published on 01 August 1994

A legal framework for biobanking: the German experience

article

A list of cloned human DNA sequences

scientific article published on 01 January 1983

A list of cloned human DNA sequences-Supplement

scientific article published on 01 January 1984

A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations

scientific article

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

scientific article published in August 2008

A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease

scientific article published on May 2011

A molecular genetic study of factor XI deficiency

scientific article published on 01 May 1991

A molecular model of the serine protease domain of activated protein C: application to the study of missense mutations causing protein C deficiency

scientific article published on 01 June 1993

A new era in the discovery of de novo mutations underlying human genetic disease

scientific article published on 12 December 2012

A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease

scientific article published on 29 May 2012

A novel Alu-mediated 61-kb deletion of the von Willebrand factor (VWF) gene whose breakpoints co-locate with putative matrix attachment regions

scientific article published on 11 May 2006

A novel dysfunctional growth hormone variant (Ile179Met) exhibits a decreased ability to activate the extracellular signal-regulated kinase pathway

scientific article published in March 2004

A novel dysfunctional protein C (protein C Padua 2) associated with a thrombotic tendency: substitution of Cys for Arg-1 results in a strongly reduced affinity for binding of Ca++

scientific article published on 01 November 1993

A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis

article

A novel human multi-locus DNA family detected by pJU78 (DF31).

scientific article published in February 1991

A novel missense mutation (Thr176?IIe) at the putative hinge of the neo N-terminus of activated protein C

scientific article published on 01 April 1995

A novel missense mutation in the antithrombin III gene (Ala387?Val) causing recurrent venous thrombosis

article

A novel missense mutation in the antithrombin III gene (Ser349----Pro) causing recurrent venous thrombosis

scientific article

A novel nonsense mutation in the protein C (PROC) gene (Trp-29?Term) causing recurrent venous thrombosis

article

A novel point mutation (Val 297???Met) in the serine proteinase domain of protein C in a patient with both venous and arterial thromboembolic disease

scientific article published on 01 August 1993

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

scientific article published on 01 June 2010

A probabilistic model to predict clinical phenotypic traits from genome sequencing

scientific article

A rare complex DNA rearrangement in the murine Steel gene results in exon duplication and a lethal phenotype

scientific article published on 24 July 2003

A single base-pair deletion in the protein C gene causing recurrent thromboembolism

article

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

scientific article

A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: general principles and overview

scientific article

A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes II: the importance of mRNA secondary structure in assessing the functionality of 3' UTR variants

scientific article

AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature

scientific article published on 01 May 2020

Aberrant RNA splicing of the protein C and protein S genes in healthy individuals

article

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

scientific article published on 7 August 2008

Adult-onset genetic disease: mechanisms, analysis and prediction

scientific article published on February 1997

Air pollution and mutations in the germline: are humans at risk?

scientific article published on 27 December 2008

An emerging role for microRNAs in NF1 tumorigenesis

scientific article

An estimate of unique DNA sequence heterozygosity in the human genome

article

An integrative approach to predicting the functional effects of non-coding and coding sequence variation

scientific article published on 11 January 2015

An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome

scientific article

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

scientific article

Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination

scientific article published on 2 December 2013

Analysis of protein-coding genetic variation in 60,706 humans

scientific article (publication date: 17 August 2016)

Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene Assay

scientific article published on 10 October 2017

Antithrombin III mutation database: first update. For the Thrombin and its Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.

scientific article published in August 1993

Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.

scientific article

Application of the polymerase chain reaction to the diagnosis of human genetic disease

scientific article published on June 1990

Ascertainment and critical assessment of the views of the general public and healthcare professionals on nutrigenomics in Greece

article

Assessing radiation-associated mutational risk to the germline: repetitive DNA sequences as mutational targets and biomarkers

scientific article

Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel).

scientific article published on 07 October 2015

Assessing the pathological relevance of SPINK1 promoter variants

scientific article

Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease

scientific article

Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.

scientific article

Automated inference of molecular mechanisms of disease from amino acid substitutions.

scientific article

Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes).

scientific article published in January 2005

Breakpoints of gross deletions coincide with non-B DNA conformations

scholarly article

Bridging genomics research between developed and developing countries: the Genomic Medicine Alliance

CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.

scientific article published on 27 June 2018

CRAVAT: cancer-related analysis of variants toolkit

scientific article published on 16 January 2013

Carrier detection in haemophilia A by direct analysis of factor VIII gene lesions

scientific article

Changes in primary DNA sequence complexity influence the phenotypic consequences of mutations in human gene regulatory regions

article

Characterisation of a functional intronic polymorphism in the human growth hormone (GH1) gene

scientific article published on June 2010

Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and frequent repair of double-strand breaks by templated insertions derived from remote genomic regions

scientific article published on 20 March 2015

Characterization of pathological dystrophin transcripts from the lymphocytes of a muscular dystrophy carrier

scientific article

Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apes

scientific article published on 15 June 2006

Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3NF1deletions

scientific article published on 09 December 2011

Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.

scientific article published in February 2004

Chicken lens delta-crystallin gene expression and methylation in several non-lens tissues

scientific article published on May 1983

Chromosomal distribution of disease genes in the human genome

scientific article published on August 2010

Chromosomal speciation of humans and chimpanzees revisited: studies of DNA divergence within inverted regions

scientific article published in January 2007

Clarifying the clinical relevance of SPINK1 intronic variants in chronic pancreatitis

scientific article published on 30 December 2015

Clinical relevance of cancer genome sequencing

scientific article published in April 2013

Cloning and sequence analysis of the human parathyroid hormone gene region

article

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

article

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

article

Combined factor VIII/factor XI deficiency may cause intra-familial clinical variability in haemophilia A among Ashkenazi Jews

scientific article published in February 1994

Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes

scientific article published on 02 June 2020

Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity

scientific article published on 03 June 2021

Comparative analysis of copy number variation in primate genomes

scientific article published on January 2008

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

scientific article published on 22 March 2011

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

scientific article

Complex Multiple-Nucleotide Substitution Mutations Causing Human Inherited Disease Reveal Novel Insights into the Action of Translesion Synthesis DNA Polymerases.

scientific article

Complex gene rearrangements caused by serial replication slippage

article

Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome

scientific article published on 13 July 2006

Compound heterozygosity for two novel mutations (1203insG/Y1456X) in the von Willebrand factor gene causing type 3 von Willebrand disease

scientific article published in September 2007

Compound heterozygous protein C deficiency resulting in the presence of only the beta-form of protein C in plasma

scientific article published on 01 September 1996

Concurrent Nucleotide Substitution Mutations in the Human Genome Are Characterized by a Significantly Decreased Transition/Transversion Ratio

Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identification

scientific article

Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions

article

Core database

scientific article published in Nature

Critical appraisal of the private genetic and pharmacogenomic testing environment in Greece

Critical appraisal of the views of healthcare professionals with respect to pharmacogenomics and personalized medicine in Greece

article

Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations

scientific article

Cruciform-forming inverted repeats appear to have mediated many of the microinversions that distinguish the human and chimpanzee genomes

scientific article published on 28 May 2009

Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes

scientific article published in September 1989

D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection

scientific article published in July 2003

DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levels.

scientific article published on 7 January 2015

DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indels

scientific article

DNA methylation and CpG suppression

scientific article

DNA polymorphism and the study of disease associations

scientific article published on April 1988

DNA restriction fragment length polymorphisms and heterozygosity in the human genome

scientific article published on January 1984

DNA structure matters

scientific article published on 24 June 2013

De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis

scientific article

Deciphering next-generation pharmacogenomics: an information technology perspective

scientific article

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing

scientific article

Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disorders

scientific article

Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports

scientific article published on 12 December 2011

Detection and characterization of seven novel protein S (PROS) gene lesions: evaluation of reverse transcript-polymerase chain reaction as a mutation screening strategy

article

Detection of NF1 mutations utilizing the protein truncation test (PTT).

scientific article

Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA.

scientific article published in October 1990

Detection of missense mutations by single-strand conformational polymorphism (SSCP) analysis in five dysfunctional variants of coagulation factor VII

scientific article published on 01 September 1993

Detection of two Alu insertions in the CFTR gene

scientific article published on 24 May 2007

Determinants of the factor IX mutational spectrum in haemophilia B: an analysis of missense mutations using a multi-domain molecular model of the activated protein

scientific article published in December 1994

Diagnosis of genetic disease using recombinant DNA.

scientific article

Diagnosis of genetic disease using recombinant DNA. Second edition

scientific article

Diagnosis of genetic disease using recombinant DNA. Supplement

scientific article published on September 1987

Diagnosis of genetic disease using recombinant DNA. Third edition

scientific article published on September 1991

Diagnosis of human genetic disease using recombinant DNA. Fourth edition

scientific article published on October 1993

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

scientific article published on 18 August 2014

Digging deeper into the intronic sequences of the SPINK1 gene

scientific article published on 16 February 2016

Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple Osteochondromas

Discovery and Functional Annotation of PRSS1 Promoter Variants in Chronic Pancreatitis

scientific article published on 18 July 2016

Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene

scientific article published on August 1991

Disease-causing mutations in the human genome

scientific article

Disentangling the perturbational effects of amino acid substitutions in the DNA-binding domain of p53.

scientific article published in January 1999

Disruption of a binding site for hepatocyte nuclear factor 1 in the protein C gene promoter is associated with hereditary thrombophilia

scientific article published on December 1994

Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions

scientific article published on 13 May 2012

Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion

scientific article published on March 2007

Do inherited disease genes have distinguishing functional characteristics?

scientific article published in June 2010

Down's syndrome and the molecular biology of chromosome 21.

scientific article

Early onset seizures and Rett-like features associated with mutations in CDKL5.

scientific article published in October 2005

Ectopic (illegitimate) transcription: new possibilities for the analysis and diagnosis of human genetic disease

scientific article published on February 1994

Ectopic transcript analysis indicates that allelic exclusion is an important cause of type I protein C deficiency in patients with nonsense and frameshift mutations in the PROC gene

article

Editorial

Efficient generation of energetic ions in multi-ion plasmas by radio-frequency heating

article

Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networks

scientific article published on 07 April 2014

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

scientific article published on 7 July 2009

Emerging genotype-phenotype relationships in patients with large NF1 deletions

scientific article published on 17 February 2017

Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome

scientific article published in April 2010

Erratum to: The somatic autosomal mutation matrix in cancer genomes

scientific article published in August 2015

Estimating the efficacy and efficiency of cascade genetic screening

scientific article

Eukaryotic DNA methylation ⬇️

scientific article published on January 1, 1983

Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumours

scientific article

Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene.

scientific article published on 11 October 2001

Evaluation of genotype-phenotype correlations in neurofibromatosis type 1 ⬇️

scientific article published on October 1, 2003

Evaluation of the use of the luciferase-reporter-gene system for gene-regulation studies involving cyclic AMP-elevating agents

scientific article published on July 1995

Evidence against close linkage of the loci for fraXq of Martin-Bell syndrome and for factor IX

article

Evidence for a protein S receptor(s) on human vascular smooth muscle cells. Analysis of the binding characteristics and mitogenic properties of protein S on human vascular smooth muscle cells

scientific article published on June 1995

Evidence for cultured human vascular smooth muscle cell heterogeneity: isolation of clonal cells and study of their growth characteristics

scientific article published on 01 May 1996

Evolution of the proximal promoter region of the mammalian growth hormone gene

scientific article published in September 1999

Evolutionary and Biomedical Insights from the Rhesus Macaque Genome

scientific article

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

scientific article

Exome sequencing: a transient technology for molecular diagnostics?

Exome sequencing: dual role as a discovery and diagnostic tool

scientific article published on January 2012

Exome versus transcriptome sequencing in identifying coding region variants

scientific article published on April 2012

ExonImpact: Prioritizing Pathogenic Alternative Splicing Events

scientific article published on 8 September 2016

Exploring the potential relevance of human-specific genes to complex disease

scientific article

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas

scientific article published on 23 November 2011

Extended runs of homozygosity at 17q11.2: an association with type-2NF1deletions?

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

scientific article published on 12 September 2019

FATHMM-XF: accurate prediction of pathogenic point mutations via extended features

scientific article published on 5 September 2017

Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.

scientific article published in September 1995

From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic disease

scientific article published on 09 February 2013

Functional analysis of an unusual length polymorphism in the human antithrombin III (AT3) gene promoter

article

Functional analysis of polymorphic variation within the promoter and 5' untranslated region of the neurofibromatosis type 1 (NF1) gene.

scientific article

GWAS: heritability missing in action?

scientific article published on 17 March 2010

Gain-of-glycosylation mutations

scientific article published on 30 April 2007

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

scientific article

Gains of glycosylation mutations

scientific article

Gene Conversion in Evolution and Disease

article

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

scientific article

Gene conversion in human genetic disease

scientific article published on 22 December 2010

Gene conversion: mechanisms, evolution and human disease

scientific article

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

scientific article published on March 1991

Gene discovery in familial cancer syndromes by exome sequencing: prospects for the elucidation of familial colorectal cancer type X.

scientific article

Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolution

scientific article (publication date: 24 April 2009)

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

scientific article published on June 2010

Genetic tests obtainable through pharmacies: the good, the bad, and the ugly

scientific article published on 8 July 2013

Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke

article

Genome sequence of the Brown Norway rat yields insights into mammalian evolution

scientific article

Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaques

scientific article published on 16 October 2011

Genome-wide analysis of copy number variation identifies candidate gene loci associated with the progression of non-alcoholic fatty liver disease

scientific article

Genomic Medicine Without Borders: Which Strategies Should Developing Countries Employ to Invest in Precision Medicine? A New "Fast-Second Winner" Strategy

scientific article published in November 2017

Genomic rearrangements in inherited disease and cancer

scientific article published on 09 June 2010

Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms

scientific article published in April 2004

Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients

scientific article published on 8 December 2017

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

scientific article

Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1.

scientific article published on September 2005

Gross Rearrangement Breakpoint Database (GRaBD).

scientific article published on March 2004

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay

scientific article published in May 1998

Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

article

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

scientific article published on 23 September 2005

Growth hormone (GH1) gene variation and the growth hormone receptor (GHR) exon 3 deletion polymorphism in a West-African population.

scientific article

Guanine holes are prominent targets for mutation in cancer and inherited disease

scientific article (publication date: 2013)

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene

scientific article

Homology modelling of the catalytic domain of early mammalian protein C: evolution of structural features

scientific article published on 01 November 1997

How to distinguish genetically between an alleged father and his monozygotic twin: A thought experiment

article by Michael Krawczak et al published September 2012 in Forensic Science International: Genetics

Human Gene Mutation Database

article

Human Gene Mutation Database (HGMD): 2003 update

scientific article published in June 2003

Human Gene Mutation Database: towards a comprehensive central mutation database

article

Human Gene Mutation Database?A biomedical information and research resource

article

Human Gene Mutation in Inherited Disease

article

Human Gene Mutation: Mechanisms and Consequences

article

Human gene cloning and disease analysis

scientific article

Human gene cloning: the storm before the lull?

scientific article published in July 1986

Human gene mutation in pathology and evolution

scientific article

Human gene mutations affecting RNA processing and translation

scientific article

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

scientific article

Human genetics and genomics a decade after the release of the draft sequence of the human genome

scientific article published in October 2011

Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome

scientific article

Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region

scientific article published in April 2003

Human type I hair keratin pseudogene phihHaA has functional orthologs in the chimpanzee and gorilla: evidence for recent inactivation of the human gene after the Pan-Homo divergence

scientific article (publication date: 2001)

Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumours

article

Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumours

scientific article published on 01 July 2000

IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.

scientific article

IMHOTEP-a composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variants

scientific article published on February 2017

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

scientific article

Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancy

scientific article published on 21 January 2020

Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma

scientific article

Identification of an intronic regulatory element in the human protein C ( PROC) gene

article

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach

scientific article published on 20 June 2015

Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly

scientific article

Identification of large NF1 duplications reciprocal to NAHR-mediated type-1 NF1 deletions

scientific article published in December 2014

Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization

scientific article

Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder

scientific article published on 20 August 2012

Identifying Mendelian disease genes with the variant effect scoring tool

scientific article

Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation

scientific article

Improved carrier detection of haemophilia A using novel RFLPs at the DXS115 (767) locus

scientific article

In silico discrimination of single nucleotide polymorphisms and pathological mutations in human gene promoter regions by means of local DNA sequence context and regularity.

scientific article published in January 2006

In silico functional profiling of human disease-associated and polymorphic amino acid substitutions

scientific article

In silico prioritization and further functional characterization of SPINK1 intronic variants

scientific article

In vitro and in silico evidence against a significant effect of the SPINK1 c.194G>A variant on pre-mRNA splicing

scientific article

Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16.

scientific article

Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations

scientific article published on June 2015

Inferring the molecular and phenotypic impact of amino acid variants with MutPred2

scientific article published on 20 November 2020

Inherited factor VII deficiency: genetics and molecular pathology

scientific article published on 01 July 1995

Inherited factor VII deficiency: molecular genetics and pathophysiology

scientific article published on 01 July 1997

Inherited factor X deficiency: molecular genetics and pathophysiology.

scientific article published in July 1997

Insights into hominid evolution from the gorilla genome sequence

scientific article

Integrating next-generation sequencing into the diagnostic testing of inherited cancer predisposition

scientific article published on 29 October 2012

Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited disease

scientific article published on 16 November 2011

Interpreting secondary cardiac disease variants in an exome cohort

scientific article published on 16 July 2013

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

scientific article published in October 2010

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

Is the NIH policy for sharing GWAS data running the risk of being counterproductive?

scientific article

Key challenges for next-generation pharmacogenomics: Science & Society series on Science and Drugs

scientific article

LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease: mutation detection bias and multiple mechanisms of target gene disruption

scientific article

Late-onset homozygous protein C deficiency

scientific article published in The Lancet

Legal and ethical consequences of international biobanking from a national perspective: the German BMB-EUCoop project

scientific article

Lionizing lyonization 50 years on ⬇️

scientific article published on August 1, 2011

Local DNA dynamics shape mutational patterns of mononucleotide repeats in human genomes

scientific article published on 20 April 2015

Local DNA sequence determinants of FUT2 copy number variation

scientific article published in June 2011

Local sequence determinants of two in-frame triplet deletion/duplication hotspots in the RHD/RHCE genes

scientific article published on 2 August 2012

Localization of a human heat-shock HSP 70 gene sequence to chromosome 6 and detection of two other loci by somatic-cell hybrid and restriction fragment length polymorphism analysis

scientific article

Long homopurine*homopyrimidine sequences are characteristic of genes expressed in brain and the pseudoautosomal region

scientific article

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

scientific article

Loss of exon identity is a common mechanism of human inherited disease

scientific article

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

scientific article

Mechanism of Alu integration into the human genome

scientific article published on 28 March 2007

Mechanisms of base substitution mutagenesis in cancer genomes

scientific article published on 05 March 2014

Mechanisms of insertional mutagenesis in human genes causing genetic disease

article

Mechanisms of loss of heterozygosity in neurofibromatosis type 1-associated plexiform neurofibromas.

scientific article

Meiotic recombination favors the spreading of deleterious mutations in human populations

scientific article

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

article

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

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

article

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

scientific article published on August 2010

Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesis

scientific article

Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain

scientific article

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

scientific article published in September 2005

Molecular analysis of the 5′-flanking region of the neurofibromatosis type 1 (NF1) gene: identification of five sequence variants

article

Molecular analysis of the genotype-phenotype relationship in factor VII deficiency

article

Molecular analysis of the genotype-phenotype relationship in factor X deficiency

article

Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome

scientific article

Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.

scientific article

Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritis

scientific article published on 11 July 2007

Molecular diagnosis of facioscapulohumeral muscular dystrophy

scientific article

Molecular genetic analysis of a novel form of haemophilia A characterized by the variable expression of factor VIII.

scientific article published in September 1990

Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism

article

Molecular genetic analysis of severe protein C deficiency

article

Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations

scientific article

Molecular genetic approaches to the analysis and diagnosis of human inherited disease: an overview

scientific article

Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1.

scientific article published on 4 September 2012

Molecular mechanisms of chromosomal rearrangement during primate evolution

scientific article published on January 2008

Molecular reconstruction and homology modelling of the catalytic domain of the common ancestor of the haemostatic vitamin-K-dependent serine proteinases

scientific article published on 01 September 1996

Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation

article

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

article by Ludwine Messiaen et al published 28 January 2011 in Human Mutation

Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?

scientific article published on 29 May 2008

Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding

scientific article

MspI RFLP in the human heparin cofactor II (HCF2) gene

scientific article published on March 1990

MuPIT interactive: webserver for mapping variant positions to annotated, interactive 3D structures

scientific article

Murine retroviral vectors and human gene therapy

scientific article published in May 1985

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing

scientific article published on 13 January 2014

MutationTaster2021

scientific article published on 01 April 2021

MutationTaster2: mutation prediction for the deep-sequencing age.

scientific article published in April 2014

Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene

scientific article published in January 1997

Mutations Causing Complex Disease May under Certain Circumstances Be Protective in an Epidemiological Sense.

scientific article

NF1 Microdeletions and Their Underlying Mutational Mechanisms

article

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

scientific article

Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis

scientific article published on October 2011

New clinical and molecular insights on Barth syndrome

scientific article published on 14 February 2013

No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort

scientific article

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

scientific article

Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions

scientific article

Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature

article

Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts

scientific article published on August 1992

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

Origin of the prevalentSFTPBindel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency

scientific article published on 01 January 2006

Overview of the JET results in support to ITER

article

Patterns and mutational signatures of tandem base substitutions causing human inherited disease

scientific article published on 20 May 2013

Polymorphic micro-inversions contribute to the genomic variability of humans and chimpanzees

scientific article published on 16 December 2005

Polymorphic variation in the human protein C (PROC) gene promoter can influence transcriptional efficiency in vitro

scientific article published on 01 June 1995

Population differences in the frequency of the factor V Leiden variant among people with clinically symptomatic protein C deficiency

scientific article

Population-specific differences in gene conversion patterns between human SUZ12 and SUZ12P are indicative of the dynamic nature of interparalog gene conversion

scientific article published on 3 January 2014

Precursor-product relationship between vitellogenin and the yolk proteins as derived from the complete sequence of a Xenopus vitellogenin gene

scientific article

Predicting the functional consequences of cancer-associated amino acid substitutions

scientific article

Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models

scientific article published on 2 November 2012

Prediction of functional regulatory SNPs in monogenic and complex disease

scientific article published on 09 September 2011

Preface

Prenatal Exclusion of Severe Factor VII Deficiency

scientific article published on 01 May 2003

Prenatal exclusion of haemophilia A and carrier testing by direct detection of a disease lesion

scientific article

Prenatal exclusion of severe factor VII deficiency by DNA sequencing

scientific article published in The Lancet

Promoter shuffling has occurred during the evolution of the vertebrate growth hormone gene

scientific article published in August 2000

Proposed guidelines for papers describing DNA polymorphism-disease associations.

scientific article published on 13 February 2002

Prospects for the automated extraction of mutation data from the scientific literature ⬇️

scientific article published on October 1, 2010

Protein C London 1: recurrent mutation at Arg 169 (CGG----TGG) in the protein C gene causing thrombosis

scientific article published on December 1989

Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene

article

Protein C deficiency: a database of mutations. For the Protein C & S Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis

scientific article published on 01 January 1993

Protein S deficiency: a database of mutations--summary of the first update

article by S Gandrille et al published November 2000 in Thrombosis and Haemostasis

Protein S deficiency: a database of mutations. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis

scholarly article by S Gandrille et al published June 1997 in Thrombosis and Haemostasis

Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns.

scientific article published on 5 August 2015

Prothrombin cleavage by human vascular smooth muscle cells: A potential alternative pathway to the coagulation cascade

scholarly article by Omar Benzakour published in December 1995

Quantitative mapping of genetic similarity in human heritable diseases by shared mutations

scientific article published on 17 October 2017

Ranking non-synonymous single nucleotide polymorphisms based on disease concepts

scientific article

Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences

scientific article published in February 1990

Recurrent deletion in the human antithrombin III gene

scientific article published in August 1991

RegSNPs-Intron: A Computational Framework For Prioritizing Intronic Single Nucleotide Variants in Human Genetic Disease

Regional localization and characterization of a DNA segment on the long arm of chromosome 21

scientific article published on 01 February 1987

Regional mapping of six cloned DNA sequences on human chromosome 7.

scientific article

RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants

scientific article published on 01 July 2019

Regulatory Mutations and Human Genetic Disease ⬇️

scientific article published on December 1, 1992

Regulatory Single-Nucleotide Variant Predictor Increases Predictive Performance of Functional Regulatory Variants

scientific article published on 13 July 2016

Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD

scientific article

Research and clinical applications of cancer genome sequencing

scientific article published on February 2013

Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease

article

Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation

scientific article

Restriction fragment length polymorphisms at the human parathyroid hormone gene locus

article

Revealing the human mutome

scientific article published on October 2010

Role of the Common PRSS1-PRSS2 Haplotype in Alcoholic and Non-Alcoholic Chronic Pancreatitis: Meta- and Re-Analyses

scientific article published on 13 November 2020

S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing

scientific article published on 25 February 2019

SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis

STREGA: a ‘How-To’ guide for reporting genetic associations

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.

scientific article

Screening for inversions in the factor VIII (F8) gene causing severe haemophilia A.

scientific article published in April 1994

Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1.

scientific article published on 15 August 2013

Searching for potential microRNA-binding site mutations amongst known disease-associated 3' UTR variants

scientific article published on 30 January 2007

Severe perinatal thrombosis in double and triple heterozygous offspring of a family segregating two independent protein S mutations and a protein C mutation

scientific article published in May 1996

Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease

article

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing

scientific article published in February 2007

Single base-pair substitutions in pathology and evolution: two sides to the same coin.

scientific article published in January 1996

Single-strand conformation polymorphism (SSCP) analysis of exon 11 of the CFTR gene reliably detects more than one third of non-?F508 mutations in German cystic fibrosis patients

article

Small deletions within the RHD coding sequence: a report of two novel mutational events and a survey of the underlying pathophysiologic mechanisms

scientific article published on 21 May 2012

Somatic Copy Number Alterations: Gene and Protein Expression Correlates in NF1-Associated Malignant Peripheral Nerve Sheath Tumors

article

Somatic spectrum of cancer-associated single basepair substitutions in the TP53 gene is determined mainly by endogenous mechanisms of mutation and by selection

article

Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts

scientific article

Structural divergence between the human and chimpanzee genomes

scientific article

Structure-based kernels for the prediction of catalytic residues and their involvement in human inherited disease

scientific article

Symptomatic type II protein C deficiency caused by a missense mutation (Gly 381 → Ser) in the substrate-binding pocket

scientific article published on 01 June 1993

THE EVOLUTION OF THE VERTEBRATE β-GLOBIN GENE PROMOTER

article

Technological advances in DNA sequence enrichment and sequencing for germline genetic diagnosis

scientific article published on March 2012

Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy

scientific article published on 28 September 2016

The Evolution of High-Throughput Sequencing Technologies: From Sanger to Single-Molecule Sequencing

The Frequency of Inherited Disorders Database

scientific article published in January 2001

The Genome of Black Cottonwood, Populus trichocarpa (Torr. & Gray)

scientific article

The Germline Mutational Spectrum in Neurofibromatosis Type 1 and Genotype–Phenotype Correlations

The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution

scientific article published in September 2012

The Human Gene Mutation Database: 2008 update ⬇️

scientific article published on 22 January 2009

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

scientific article

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics

scientific article published on December 2009

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

scientific article

The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease

scientific article

The Molecular Genetics of Lung Cancer

article

The Molecular Genetics of Platelet Membrane Proteins and their Inherited Disorders ⬇️

scientific article published on January 1, 1991

The NF1 somatic mutational landscape in sporadic human cancers

scientific article

The Rise and Rise of Exome Sequencing.

scientific article published on 30 November 2016

The Somatic Mutational Spectrum of the NF1 Gene

article

The chimpanzee-specific pericentric inversions that distinguish humans and chimpanzees have identical breakpoints in Pan troglodytes and Pan paniscus

scientific article published on January 2006

The distribution of the dinucleotide CpG and cytosine methylation in the vitellogenin gene family

scientific article

The effect of replication errors on the mismatch analysis of PCR-amplified DNA.

scientific article published on February 1990

The emergence of the mitochondrial genome as a partial regulator of nuclear function is providing new insights into the genetic mechanisms underlying age-related complex disease

scientific article published on 04 December 2013

The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity

scientific article

The evolution of the vertebrate beta-globin gene promoter

scientific article published in February 2002

The functional spectrum of low-frequency coding variation ⬇️

scientific article published on September 14, 2011

The future of work in the digital diaspora: economic restructuring and education

The genetic structure of the Turkish population reveals high levels of variation and admixture

scientific article published on 7 September 2021

The human gene damage index as a gene-level approach to prioritizing exome variants

scientific article

The human gene mutation database

scientific article published on January 1998

The human gene mutation database

article

The molecular genetics of familial venous thrombosis

article

The molecular genetics of growth hormone deficiency

article

The molecular genetics of haemophilia A: screening for point mutations in the factor VIII gene using the restriction enzyme TaqI.

scientific article

The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis

scientific article published on 05 December 2016

The mutation significance cutoff: gene-level thresholds for variant predictions

scientific article published on January 2016

The mutational demography of protein C deficiency

scientific article published on 01 August 1995

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

scientific article published on June 1990

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

scientific article (publication date: 1992)

The pattern of DNA methylation in the delta-crystallin genes in transdifferentiating neural retina cultures

scientific article published on January 1983

The sequencing and interpretation of the genome obtained from a Serbian individual

scientific article published in PLoS ONE

The somatic autosomal mutation matrix in cancer genomes

scientific article published on 23 May 2015

The yak genome and adaptation to life at high altitude

scientific article

The ‘sequence everything’ approach and personalized clinical decision challenges

Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1.

scientific article published on 9 October 2002

Three novel PROC gene lesions causing protein C deficiency ⬇️

scientific article published on September 1, 1998

Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis

article

Three novel mutations in the protein C (PROC) gene causing venous thrombosis

article

Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells

scientific article published on 23 January 2012

Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response

scientific article

Transient hypermutability, chromothripsis and replication-based mechanisms in the generation of concurrent clustered mutations

scientific article published on January 2012

Translocation and deletion breakpoints in cancer genomes are associated with potential non-B DNA-forming sequences

scientific article published on 15 April 2016

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

scientific article

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

scientific article published in September 2003

Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations

scientific article

Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis

scientific article published in August 1992

Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene

scientific article published on 20 September 2008

Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination

scientific article published on 31 October 2007

Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisons

scientific article

Unmethylated domains in vertebrate DNA.

scientific article

Using exome data to identify malignant hyperthermia susceptibility mutations

scientific article

Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex.

scientific article

Variation in the DNA Methylation Pattern of Expressed and Nonexpressed Genes in Chicken ⬇️

scientific article published on January 1, 1983

Variation of site-specific methylation patterns in the factor VIII (F8C) gene in human sperm DNA.

scientific article published in August 1998

When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants.

scientific article published in July 2017

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

scientific article published on 03 July 2013

[14]Analysis of promoter mutations causing human genetic disease

mutation3D: Cancer Gene Prediction Through Atomic Clustering of Coding Variants in the Structural Proteome

scientific article published on 3 February 2016

p53 mutations, benzo[a]pyrene and lung cancer.

scientific article published in July 1998

regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution

scientific article

regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions

scientific article

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