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Ravages: An R package for the simulation and analysis of rare variants in multicategory phenotypes

Genetic epidemiology, 2023-09, Vol.47 (6), p.450-460

2023

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The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis

Human mutation, 2021-04, Vol.42 (4), p.385-391

2021

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End‐Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy

Annals of neurology, 2021-12, Vol.90 (6), p.962-975

2021

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PSAP-Genomic-Regions: A Method Leveraging Population Data to Prioritize Coding and Non-Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis

Genetic epidemiology, 2024-09

2024

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Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis

Human mutation, 2022-02, Vol.43 (2), p.228-239

2022

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RAVAQ: An integrative pipeline from quality control to region‐based rare variant association analysis

Genetic epidemiology, 2022-07, Vol.46 (5-6), p.256-265

2022

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Rare variant association testing for multicategory phenotype

Genetic epidemiology, 2019-09, Vol.43 (6), p.646-656

2019

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

Human mutation, 2017-08, Vol.38 (8), p.1014-1024

2017

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Evaluation of saliva as a source of accurate whole‐genome and microbiome sequencing data

Genetic epidemiology, 2021-07, Vol.45 (5), p.537-548

2021

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Blood transcriptomic biomarker as a surrogate of ischemic brain gene expression

Annals of clinical and translational neurology, 2019-09, Vol.6 (9), p.1681-1695

2019

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Genetics and postsurgical neuropathic pain: An ancillary study of a multicentre survey

European journal of anaesthesiology, 2019-05, Vol.36 (5), p.342-350

2019

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Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study

Human mutation, 2011-02, Vol.32 (2), p.240-248

2011

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

The clinical respiratory journal, 2016-11, Vol.10 (6), p.777-783

2016

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Concise Review: Forkhead Pathway in the Control of Adult Neurogenesis

Stem cells (Dayton, Ohio), 2014-06, Vol.32 (6), p.1398-1407

2014

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

Genetic epidemiology, 2012-12, Vol.36 (8), p.848-855

2012

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

Genetic epidemiology, 2009-12, Vol.33 (8), p.729-739

2009

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

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-09, Vol.153B (6), p.1200-1208

2010

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

Genetic epidemiology, 2009-01, Vol.33 (1), p.45-53

2009

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Genetics and postsurgical neuropathic pain

European journal of anaesthesiology, 2019, Vol.36 (5), p.342-350

2019

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Familial Mediterranean Fever In Lebanon: Founder Effects For Different MEFV Mutations

Annals of human genetics, 2008-01, Vol.72 (1), p.41-47

2008

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Penetrance estimation of SORL1 loss‐of‐function variants adjusted on APOE genotypes suggest a non‐monogenic inheritance

Alzheimer's & dementia, 2021-12, Vol.17 (S10), p.n/a

2021

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Peroxisomal and mitochondrial status of two murine oligodendrocytic cell lines (158N, 158JP): potential models for the study of peroxisomal disorders associated with dysmyelination processes

Journal of neurochemistry, 2009-10, Vol.111 (1), p.119-131

2009

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Evaluation of saliva as a source of accurate wholegenome and microbiome sequencing data

Genetic epidemiology, 2021-07, Vol.45 (5), p.537-548

2021

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Ravages: An R package for the simulation and analysis of rare variants in multicategory phenotypes

The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis

End‐Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy

PSAP-Genomic-Regions: A Method Leveraging Population Data to Prioritize Coding and Non-Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis

Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis

RAVAQ: An integrative pipeline from quality control to region‐based rare variant association analysis

Rare variant association testing for multicategory phenotype

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome

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

Evaluation of saliva as a source of accurate whole‐genome and microbiome sequencing data

Blood transcriptomic biomarker as a surrogate of ischemic brain gene expression

Genetics and postsurgical neuropathic pain: An ancillary study of a multicentre survey

CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis

Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study

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

Concise Review: Forkhead Pathway in the Control of Adult Neurogenesis

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

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

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

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

Genetics and postsurgical neuropathic pain

Familial Mediterranean Fever In Lebanon: Founder Effects For Different MEFV Mutations

Penetrance estimation of SORL1 loss‐of‐function variants adjusted on APOE genotypes suggest a non‐monogenic inheritance

Peroxisomal and mitochondrial status of two murine oligodendrocytic cell lines (158N, 158JP): potential models for the study of peroxisomal disorders associated with dysmyelination processes

Evaluation of saliva as a source of accurate wholegenome and microbiome sequencing data

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