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Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy

Human mutation, 2020-02, Vol.41 (2), p.465-475

2020

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Genome reduction and potential metabolic complementation of the dual endosymbionts in the whitefly Bemisia tabaci

BMC genomics, 2015-03, Vol.16 (1), p.226-226, Article 226

2015

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Development of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia

Clinical genetics, 2020-12, Vol.98 (6), p.589-594

2020

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Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster

European journal of human genetics : EJHG, 2020-03, Vol.28 (3), p.324-332

2020

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Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder

Orphanet journal of rare diseases, 2019-05, Vol.14 (1), p.121-121, Article 121

2019

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Whole exome sequencing in three families segregating a pediatric case of sarcoidosis

BMC medical genomics, 2018-03, Vol.11 (1), p.23-23, Article 23

2018

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A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia

Translational research : the journal of laboratory and clinical medicine, 2023-05, Vol.255, p.119-127

2023

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Alpha Satellite Insertion Close to an Ancestral Centromeric Region

Molecular biology and evolution, 2021-12, Vol.38 (12), p.5576-5587

2021

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Whole Sequencing of Most Prevalent Dilated Cardiomyopathy-Causing Genes as a Molecular Strategy to Improve Molecular Diagnosis Efficiency?

DNA and cell biology, 2021-03, Vol.40 (3), p.491

2021

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Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients

European journal of medical genetics, 2022-04, Vol.65 (4), p.104458-104458, Article 104458

2022

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A 14q distal chromoanagenesis elucidated by whole genome sequencing

European journal of medical genetics, 2020-04, Vol.63 (4), p.103776-103776, Article 103776

2020

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Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing

Molecular syndromology, 2019-07, Vol.10 (4), p.209-213

2019

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Two host clades, two bacterial arsenals: evolution through gene losses in facultative endosymbionts

Genome biology and evolution, 2015-03, Vol.7 (3), p.839-855

2015

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Exome sequencing and pathogenicity-network analysis of five French families implicate mTOR signalling and autophagy in familial sarcoidosis

The European respiratory journal, 2019-08, Vol.54 (2), p.1900430

2019

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Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia

Arteriosclerosis, thrombosis, and vascular biology, 2021-01, Vol.41 (1), p.e63

2021

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Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination

Clinical genetics, 2023-01, Vol.103 (4), p.401-412

2023

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The Genome of Cardinium cBtQ1 Provides Insights into Genome Reduction, Symbiont Motility, and Its Settlement in Bemisia tabaci

Genome biology and evolution, 2014-04, Vol.6 (4), p.1013-1030

2014

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Development of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia

Clinical genetics, 2020-09, Vol.98 (6), p.589-594

2020

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Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts

The Lancet. Rheumatology, 2020-02, Vol.2 (2), p.e99-e109

2020

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Whole exome sequencing in three families segregating a pediatric case of sarcoidosis

BMC medical genomics, 2018-03, Vol.11 (1)

2018

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Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts

The Lancet. Rheumatology, 2020-02, Vol.2 (2), p.e99-e109

2020

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Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy

Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis

Genome reduction and potential metabolic complementation of the dual endosymbionts in the whitefly Bemisia tabaci

Development of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia

Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization

Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis

A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia

Alpha Satellite Insertion Close to an Ancestral Centromeric Region

Whole Sequencing of Most Prevalent Dilated Cardiomyopathy-Causing Genes as a Molecular Strategy to Improve Molecular Diagnosis Efficiency?

Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients

A 14q distal chromoanagenesis elucidated by whole genome sequencing

Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing

Two host clades, two bacterial arsenals: evolution through gene losses in facultative endosymbionts

Exome sequencing and pathogenicity-network analysis of five French families implicate mTOR signalling and autophagy in familial sarcoidosis

Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia

Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination

The Genome of Cardinium cBtQ1 Provides Insights into Genome Reduction, Symbiont Motility, and Its Settlement in Bemisia tabaci

Development of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia

Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis

Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization

Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts

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