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MobiDetails: online DNA variants interpretation

European journal of human genetics : EJHG, 2021-02, Vol.29 (2), p.356-360

2021

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How Far Should We Explore Hypospadias? Next-generation Sequencing Applied to a Large Cohort of Hypospadiac Patients

European urology, 2021-04, Vol.79 (4), p.507-515

2021

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The HHIP gene: from a candidate to an established participant in COPD susceptibility

EBioMedicine, 2024-04, Vol.102, p.105059-105059, Article 105059

2024

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Correction: MobiDetails: online DNA variants interpretation

European journal of human genetics : EJHG, 2021-02, Vol.29 (2), p.361-361

2021

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SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

Human genomics, 2023-02, Vol.17 (1), p.7-16, Article 7

2023

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Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories

International journal of molecular sciences, 2023-04, Vol.24 (8), p.7330

2023

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The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis

International journal of neonatal screening, 2020-03, Vol.6 (1), p.23-23

2020

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Nasal epithelial cells: a tool to study DNA methylation in airway diseases

Epigenomics, 2015-02, Vol.7 (1), p.119-126

2015

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Breast cancer survivors’ opinion on personalizing endocrine therapy and developing informative tools

NPJ breast cancer, 2024-06, Vol.10 (1), p.48-6

2024

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Generation of the induced pluripotent stem cell line UHOMi001-A from a patient with mutations in CCDC40 gene causing Primary Ciliary Dyskinesia (PCD)

Stem cell research, 2018-12, Vol.33, p.15-19

2018

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Reply to Zhongzhong Chen, Hua Xie, and Fang Chen’s Letter to the Editor re: Vuthy Ea, Anne Bergougnoux, Pascal Philibert, et al. How Far Should We Explore Hypospadias? Next-generation Sequencing Applied to a Large Cohort of Hypospadiac Patients. Eur Urol 2021;79:507–15

European urology, 2021-07, Vol.80 (1), p.e12-e13

2021

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Molecular genetics of hypospadias and cryptorchidism recent developments

Clinical genetics, 2019-01, Vol.95 (1), p.122-131

2019

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RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology

Brain (London, England : 1878), 2022-11, Vol.145 (11), p.3770-3775

2022

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PD48-03 HOW FAR SHOULD WE EXPLORE HYPOSPADIAS? NEXT-GENERATION SEQUENCING APPLIED TO A LARGE COHORT OF HYPOSPADIAC PATIENTS

The Journal of urology, 2022-05, Vol.207 (Supplement 5)

2022

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CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratoderma

British journal of dermatology (1951), 2019-11, Vol.181 (5), p.1097-1099

2019

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Transcription factors and miRNAs that regulate fetal to adult CFTR expression change are new targets for cystic fibrosis

The European respiratory journal, 2015-01, Vol.45 (1), p.116-128

2015

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Endocrine-Disrupting Chemicals and Disorders of Penile Development in Humans

Sexual development, 2021-09, Vol.15 (1-3), p.213-228

2021

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MP44-02 HOW FAR SHOULD WE EXPLORE HYPOSPADIAS? NEXT-GENERATION SEQUENCING APPLIED TO A LARGE COHORT OF HYPOSPADIAC PATIENTS

The Journal of urology, 2021-09, Vol.206 (Supplement 3)

2021

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Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa

European journal of human genetics : EJHG, 2024-07

2024

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Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss

European journal of human genetics : EJHG, 2023-07, Vol.31 (7), p.834-840

2023

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The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis

International journal of neonatal screening, 2020-03, Vol.6 (1)

2020

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miRNA repertoires of cystic fibrosis ex vivo models highlight miR‐181a and miR‐101 that regulate WISP1 expression

The Journal of pathology, 2021-02, Vol.253 (2), p.186-197

2021

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Current and future molecular approaches in the diagnosis of cystic fibrosis

Expert review of respiratory medicine, 2018-05, Vol.12 (5), p.415-426

2018

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Reclassifying inconclusive diagnosis after newborn screening for cystic fibrosis. Moving forward

Journal of cystic fibrosis, 2022-05, Vol.21 (3), p.448-455

2022

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MobiDetails: online DNA variants interpretation

How Far Should We Explore Hypospadias? Next-generation Sequencing Applied to a Large Cohort of Hypospadiac Patients

The HHIP gene: from a candidate to an established participant in COPD susceptibility

Correction: MobiDetails: online DNA variants interpretation

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories

The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis

Nasal epithelial cells: a tool to study DNA methylation in airway diseases

Breast cancer survivors’ opinion on personalizing endocrine therapy and developing informative tools

Generation of the induced pluripotent stem cell line UHOMi001-A from a patient with mutations in CCDC40 gene causing Primary Ciliary Dyskinesia (PCD)

Reply to Zhongzhong Chen, Hua Xie, and Fang Chen’s Letter to the Editor re: Vuthy Ea, Anne Bergougnoux, Pascal Philibert, et al. How Far Should We Explore Hypospadias? Next-generation Sequencing Applied to a Large Cohort of Hypospadiac Patients. Eur Urol 2021;79:507–15

Molecular genetics of hypospadias and cryptorchidism recent developments

RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology

PD48-03 HOW FAR SHOULD WE EXPLORE HYPOSPADIAS? NEXT-GENERATION SEQUENCING APPLIED TO A LARGE COHORT OF HYPOSPADIAC PATIENTS

CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratoderma

Transcription factors and miRNAs that regulate fetal to adult CFTR expression change are new targets for cystic fibrosis

Endocrine-Disrupting Chemicals and Disorders of Penile Development in Humans

MP44-02 HOW FAR SHOULD WE EXPLORE HYPOSPADIAS? NEXT-GENERATION SEQUENCING APPLIED TO A LARGE COHORT OF HYPOSPADIAC PATIENTS

Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa

CFTR‐France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants

Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss

The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis

miRNA repertoires of cystic fibrosis ex vivo models highlight miR‐181a and miR‐101 that regulate WISP1 expression

Current and future molecular approaches in the diagnosis of cystic fibrosis

Reclassifying inconclusive diagnosis after newborn screening for cystic fibrosis. Moving forward

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