List of works - Emmanuelle Génin

17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression.

scientific article published on 13 December 2016

A gene for Meckel syndrome maps to chromosome 11q13.

scientific article

A mixture model approach to multiple testing for the genetic analysis of gene expression.

scientific article

A risk for early-onset Alzheimer's disease associated with the APBB1 gene (FE65) intron 13 polymorphism

scientific article published on 01 May 2003

ALTree: association detection and localization of susceptibility sites using haplotype phylogenetic trees

scientific article published on 04 April 2006

Accuracy of heritability estimations in presence of hidden population stratification.

scientific article published on 25 May 2016

Advantage of using allele-specific copy numbers when testing for association in regions with common copy number variants

scientific article

Application of liquid chromatography with mass spectrometry combined with photodiode array detection and tandem mass spectrometry for monitoring pesticides in surface waters.

scientific article published in May 2000

Are genome-wide association studies all that we need to dissect the genetic component of complex human diseases?

scientific article published on 13 December 2006

Association of modifiers and other genetic factors explain Marfan syndrome clinical variability

scientific article published on 07 August 2018

Association studies in candidate genes: strategies to select SNPs to be tested.

scientific article published in January 2003

Autism risk assessment in siblings of affected children using sex-specific genetic scores.

scientific article published on 21 October 2011

Caution in the interpretation of MLS

scientific article published on 01 January 1997

Cladistic analysis of haplotypes as an attempt to detect disease susceptibility

scientific article published on 01 January 2001

Clinical and molecular genetic features of ARC syndrome

scientific article published on 01 August 2006

Clustering of haplotypes based on phylogeny: how good a strategy for association testing?

scientific article published on 01 February 2006

Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.

scientific article published in October 2004

Comparative Power of Family-Based Association Strategies to Detect Disease-Causing Variants Under Two-Locus Models

scientific article published on 09 August 2012

Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us?

scientific article

Correction: The genetic history of France

scientific article published on 11 March 2020

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

scientific article published on 21 October 2019

Could inbred cases identified in GWAS data succeed in detecting rare recessive variants where affected sib-pairs have failed?

scientific article

Cystic fibrosis carrier frequency and estimated prevalence of the disease in Morocco.

scientific article

DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.

scientific article published on 12 March 2015

Dealing with missing data in family-based association studies: a multiple imputation approach.

scientific article

Dealing with missing phase and missing data in phylogeny-based analysis.

scientific article

Deleterious genetic influence of CX3CR1 genotypes on HIV-1 disease progression

scientific article published on 01 March 2003

Detection and modeling of disease susceptibility locus effects: How much can be learned from contrast of populations?

scientific article published on 01 January 1999

Detection of polymorphism in the RING3 gene by high-throughput fluorescent SSCP analysis

scientific article published on 01 April 1999

Determination of polychlorodibenzo-p-dioxins and polychlorodibenzofurans by gas chromatography/tandem mass spectrometry and gas chromatography/triple mass spectrometry in a quadrupole ion trap

scientific article published on 01 May 2001

Does accounting for gene-environment (G×E) interaction increase the power to detect the effect of a gene in a multifactorial disease?

article

Efficiency of multiple imputation to test for association in the presence of missing data.

scientific article

Estimating the age of CFTR mutations predominantly found in Brittany (Western France)

scientific article published on 06 September 2007

Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis

scientific article published on 08 August 2018

Estimating the age of rare disease mutations: the example of Triple-A syndrome.

scientific article published in June 2004

Estimation of the inbreeding coefficient through use of genomic data

scientific article

Evidence for a Locus in 1p31 Region Specifically Linked to the Co-Morbidity of Asthma and Allergic Rhinitis in the EGEA Study

article

Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31.

scientific article published in June 2001

Exclusion of the Adrenocorticotropin (ACTH) Receptor (MC2R) Locus in Some Families with ACTH Resistance but No Mutations of the MC2R Coding Sequence (Familial Glucocorticoid Deficiency Type 2) ⬇️

scientific article published on October 1, 1998

FSuite: exploiting inbreeding in dense SNP chip and exome data

scientific article

Factors influencing the age at onset in familial frontotemporal lobar dementia: Important weight of genetics.

scientific article published on 13 December 2017

Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations.

scientific article

Further evidence that the UGT1A1*28 allele is not associated with coronary heart disease: The ECTIM Study

scientific article published on 01 December 2006

Gene expression profile in hereditary transthyretin amyloidosis: differences in targeted and source organs

scientific article

Genetic association and gene-environment interaction: a new method for overcoming the lack of exposure information in controls.

scientific article published on 17 November 2010

Genetic heterogeneity of Meckel syndrome.

scientific article published in December 1997

Genome-scan for bipolar disorder with sib-pair families in the Sardinian population: a new susceptibility locus on chromosome 1p22-p21?

scientific article published on 01 September 2010

Genome-wide CNV analysis replicates the association between GSTM1 deletion and bladder cancer: a support for using continuous measurement from SNP-array data

scientific article

Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis

scientific article published on 18 October 2014

Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe

scientific journal article

HLA-A*31:01 and different types of carbamazepine-induced severe cutaneous adverse reactions: an international study and meta-analysis.

scientific article published on 10 December 2013

HLA-DRB1*15 allele influences the later course of relapsing remitting multiple sclerosis

article

Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse

scientific article

Heterogeneity of marker allele frequencies hinders interpretation of linkage analysis: Illustration on chromosome 18 markers ⬇️

scientific article published on January 1, 1997

High level of inbreeding in final phase of 1000 Genomes Project

scientific article

Highlighting the impact of cascade carrier testing in cystic fibrosis families.

scientific article published on 22 March 2016

How important are rare variants in common disease?

scientific article published on 08 July 2014

Identification of a functional PRSS1 promoter variant in linkage disequilibrium with the chronic pancreatitis-protecting rs10273639.

scientific article

Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype

scientific article published on 29 May 2017

Identifying modifier genes of monogenic disease: strategies and difficulties.

scientific article

Impact of parental relationships in maximum lod score affected sib-pair method

scientific article published on 01 November 2002

Impact of the diagnosis definition on linkage detection

scientific article published on 30 December 2005

Impaired performance of FDR-based strategies in whole-genome association studies when SNPs are excluded prior to the analysis

scientific article published on 01 January 2009

In silico search for modifier genes associated with pancreatic and liver disease in Cystic Fibrosis

scientific article

Inbreeding coefficient estimation with dense SNP data: comparison of strategies and application to HapMap III.

scientific article

Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.

scientific article published on 17 December 2001

Integration of Omics Data in Genetic Epidemiology.

scientific article

Intercellular adhesion molecule-1: a protective haplotype against multiple sclerosis.

scientific article

Investigation of a candidate gene, environment, and G x E interaction using case-control and case-parent study designs

scientific article published on 01 January 2001

Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity

article

Lung cancer and DNA repair genes: multilevel association analysis from the International Lung Cancer Consortium

scientific article published in March 2012

Missing heritability of complex diseases: case solved?

scientific article published on 04 June 2019

Modeling of HLA class II susceptibility to Type I diabetes reveals an effect associated with DPB1

article

Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)

scientific article

Mutations of the cystic fibrosis gene in patients with bronchiectasis associated with rheumatoid arthritis

article

No replication of the association between the Nicastrin gene and familial early-onset Alzheimer's disease.

scientific article published in December 2003

On the Origin of the Transthyretin Val30Met Familial Amyloid Polyneuropathy

scientific article published on 05 May 2008

On the probability of identity states in permutable populations: reply to Cannings.

scientific article published in March 1998

On the use of phylogeny-based tests to detect association between quantitative traits and haplotypes.

scientific article published in December 2009

On the use of sibling recurrence risks to select environmental factors liable to interact with genetic risk factors

scientific article

Optimization of genome search strategies for homozygosity mapping: influence of marker spacing on power and threshold criteria for identification of candidate regions

scientific article published on 01 September 1998

Poor survival in rheumatoid arthritis associated with bronchiectasis: a family-based cohort study.

scientific article

Positive selection in the chromosome 16 VKORC1 genomic region has contributed to the variability of anticoagulant response in humans

scientific article

Posterior probability of linkage and maximal lod score.

scientific article published in January 1995

Power comparison of different methods to detect genetic effects and gene-environment interactions.

scientific article

Principals about principal components in statistical genetics

scientific article published on 01 November 2019

Properties of the transmission-disequilibrium test in the presence of inbreeding

article

Quantitative analysis of C60 fullerene in blood and tissues by high-performance liquid chromatography with photodiode-array and mass spectrometric detection

article

Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm.

scientific article published in January 2018

Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians.

scientific article

Rare and low frequency variant stratification in the UK population: description and impact on association tests.

scientific article

Rare variant association testing in the non-coding genome

scientific article published on 04 June 2020

Relationship inference from the genetic data on parents or offspring: A comparative study.

scientific article

Revisiting the Polygenic Additive Liability Model through the Example of Diabetes Mellitus.

scientific article

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

SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease.

scientific article published on 25 August 2015

Search for multifactorial disease susceptibility genes in founder populations

article

Selecting predictive markers for pharmacogenetic traits: tagging vs. data-mining approaches.

scientific article

Selection of single nucleotide polymorphisms for association studies in candidate genes

scientific article published on 01 January 2001

Sensitive Skin: Lessons From Transcriptomic Studies.

scientific article published on 28 May 2019

The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.

scientific article

The Missing Heritability Paradigm: A Dramatic Resurgence of the GIGO Syndrome in Genetics

article

The genetic history of France

scientific article published on 10 February 2020

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

scientific article published on 29 June 2009

Use of closely related affected individuals for the genetic study of complex diseases in founder populations.

scientific article

Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.

scientific article

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

article

List of works by Emmanuelle Génin

17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression.

A gene for Meckel syndrome maps to chromosome 11q13.

A mixture model approach to multiple testing for the genetic analysis of gene expression.

A risk for early-onset Alzheimer's disease associated with the APBB1 gene (FE65) intron 13 polymorphism

ALTree: association detection and localization of susceptibility sites using haplotype phylogenetic trees

Accuracy of heritability estimations in presence of hidden population stratification.

Advantage of using allele-specific copy numbers when testing for association in regions with common copy number variants

Application of liquid chromatography with mass spectrometry combined with photodiode array detection and tandem mass spectrometry for monitoring pesticides in surface waters.

Are genome-wide association studies all that we need to dissect the genetic component of complex human diseases?

Association of modifiers and other genetic factors explain Marfan syndrome clinical variability

Association studies in candidate genes: strategies to select SNPs to be tested.

Autism risk assessment in siblings of affected children using sex-specific genetic scores.

Caution in the interpretation of MLS

Cladistic analysis of haplotypes as an attempt to detect disease susceptibility

Clinical and molecular genetic features of ARC syndrome

Clustering of haplotypes based on phylogeny: how good a strategy for association testing?

Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.

Comparative Power of Family-Based Association Strategies to Detect Disease-Causing Variants Under Two-Locus Models

Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us?

Correction: The genetic history of France

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

Could inbred cases identified in GWAS data succeed in detecting rare recessive variants where affected sib-pairs have failed?

Cystic fibrosis carrier frequency and estimated prevalence of the disease in Morocco.

DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.

Dealing with missing data in family-based association studies: a multiple imputation approach.

Dealing with missing phase and missing data in phylogeny-based analysis.

Deleterious genetic influence of CX3CR1 genotypes on HIV-1 disease progression

Detection and modeling of disease susceptibility locus effects: How much can be learned from contrast of populations?

Detection of polymorphism in the RING3 gene by high-throughput fluorescent SSCP analysis

Determination of polychlorodibenzo-p-dioxins and polychlorodibenzofurans by gas chromatography/tandem mass spectrometry and gas chromatography/triple mass spectrometry in a quadrupole ion trap

Does accounting for gene-environment (G×E) interaction increase the power to detect the effect of a gene in a multifactorial disease?

Efficiency of multiple imputation to test for association in the presence of missing data.

Estimating the age of CFTR mutations predominantly found in Brittany (Western France)

Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis

Estimating the age of rare disease mutations: the example of Triple-A syndrome.

Estimation of the inbreeding coefficient through use of genomic data

Evidence for a Locus in 1p31 Region Specifically Linked to the Co-Morbidity of Asthma and Allergic Rhinitis in the EGEA Study

Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31.

Exclusion of the Adrenocorticotropin (ACTH) Receptor (MC2R) Locus in Some Families with ACTH Resistance but No Mutations of the MC2R Coding Sequence (Familial Glucocorticoid Deficiency Type 2) ⬇️

FSuite: exploiting inbreeding in dense SNP chip and exome data

Factors influencing the age at onset in familial frontotemporal lobar dementia: Important weight of genetics.

Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations.

Further evidence that the UGT1A1*28 allele is not associated with coronary heart disease: The ECTIM Study

Gene expression profile in hereditary transthyretin amyloidosis: differences in targeted and source organs

Genetic association and gene-environment interaction: a new method for overcoming the lack of exposure information in controls.

Genetic heterogeneity of Meckel syndrome.

Genome-scan for bipolar disorder with sib-pair families in the Sardinian population: a new susceptibility locus on chromosome 1p22-p21?

Genome-wide CNV analysis replicates the association between GSTM1 deletion and bladder cancer: a support for using continuous measurement from SNP-array data

Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis

Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe

HLA-A*31:01 and different types of carbamazepine-induced severe cutaneous adverse reactions: an international study and meta-analysis.

HLA-DRB1*15 allele influences the later course of relapsing remitting multiple sclerosis

Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse

Heterogeneity of marker allele frequencies hinders interpretation of linkage analysis: Illustration on chromosome 18 markers ⬇️

High level of inbreeding in final phase of 1000 Genomes Project

Highlighting the impact of cascade carrier testing in cystic fibrosis families.

How important are rare variants in common disease?

Identification of a functional PRSS1 promoter variant in linkage disequilibrium with the chronic pancreatitis-protecting rs10273639.

Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype

Identifying modifier genes of monogenic disease: strategies and difficulties.

Impact of parental relationships in maximum lod score affected sib-pair method

Impact of the diagnosis definition on linkage detection

Impaired performance of FDR-based strategies in whole-genome association studies when SNPs are excluded prior to the analysis

In silico search for modifier genes associated with pancreatic and liver disease in Cystic Fibrosis

Inbreeding coefficient estimation with dense SNP data: comparison of strategies and application to HapMap III.

Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.

Integration of Omics Data in Genetic Epidemiology.

Intercellular adhesion molecule-1: a protective haplotype against multiple sclerosis.

Investigation of a candidate gene, environment, and G x E interaction using case-control and case-parent study designs

Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity

Lung cancer and DNA repair genes: multilevel association analysis from the International Lung Cancer Consortium

Missing heritability of complex diseases: case solved?

Modeling of HLA class II susceptibility to Type I diabetes reveals an effect associated with DPB1

Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)

Mutations of the cystic fibrosis gene in patients with bronchiectasis associated with rheumatoid arthritis

No replication of the association between the Nicastrin gene and familial early-onset Alzheimer's disease.

On the Origin of the Transthyretin Val30Met Familial Amyloid Polyneuropathy

On the probability of identity states in permutable populations: reply to Cannings.

On the use of phylogeny-based tests to detect association between quantitative traits and haplotypes.