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InCode: Continuous Quality Assessment and Improvement

2010 14th European Conference on Software Maintenance and Reengineering, 2010, p.274-275

2010

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McC and Mc#: Unified C++ and C# Design Facts Extractors Tools

Ninth International Symposium on Symbolic and Numeric Algorithms for Scientific Computing (SYNASC 2007), 2007, p.101-104

2007

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Gene expression of protein synthesis, immunity and brain pathways specifically altered in Anorexia Nervosa

European psychiatry, 2024-08, Vol.67 (S1), p.S71-S71

2024

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Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation

PloS one, 2023-04, Vol.18 (4), p.e0280976-e0280976

2023

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A retrospective cohort study and review of the literature about germline mosaicism in Duchenne/Becker muscular dystrophy prenatal counseling: How to estimate the recurrence risk in clinical settings?

Journal of genetic counseling, 2024-06

2024

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Continuous quality assessment with inCode

Science of computer programming, 2017-02, Vol.134, p.19-36

2017

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The value of plasma cell-free DNA levels as biomarker in patients with eating disorders: A preliminary study

Psychoneuroendocrinology, 2024-02, Vol.160, p.106918-106918, Article 106918

2024

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A systematic literature review and meta-analysis of circulating nucleic acids as biomarkers in psychiatry

Progress in neuro-psychopharmacology & biological psychiatry, 2023-07, Vol.125, p.110770-110770, Article 110770

2023

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Molecular Characterization of a Rare Case of Monozygotic Dichorionic Diamniotic Twin Pregnancy after Single Blastocyst Transfer in Preimplantation Genetic Testing (PGT)

International journal of molecular sciences, 2022-09, Vol.23 (18), p.10835

2022

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

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

2023

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Non‐invasive prenatal diagnosis of single gene disorders by paternal mutation exclusion: 3 years of clinical experience

BJOG : an international journal of obstetrics and gynaecology, 2022-10, Vol.129 (11), p.1879-1886

2022

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Apports et limites de la réalité virtuelle dans les pratiques médicales en 2020

IRBM news, 2021-06, Vol.42 (3), p.100325, Article 100325

2021

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Non‐invasive prenatal diagnosis of single gene disorders by paternal mutation exclusion: 3years of clinical experience

BJOG : an international journal of obstetrics and gynaecology, 2022-10, Vol.129 (11), p.1879-1886

2022

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P342 An early onset benign myopathy with glycogen storage caused by a de novo 1.3 microdeletion of chromosome 14

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S180-S181

2023

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How a paternal uniparental isodisomy of chromosome 17 leads to autosomal recessive limb-girdle muscular dystrophy R3

Neuromuscular disorders : NMD, 2023-05, Vol.33 (5), p.367-370

2023

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Revisiting GDF9 variants in primary ovarian insufficiency: A shift from dominant to recessive pathogenicity?

Gene, 2024-11, Vol.927, p.148734, Article 148734

2024

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Non-invasive Prenatal Diagnosis of Single Gene Disorders by Paternal Mutation Exclusion: 3 Years of Clinical Experience

Obstetrical & gynecological survey, 2023-04, Vol.78 (4), p.204-206

2023

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Caveolinopathy: Clinical, histological, and muscle imaging features and follow‐up in a multicenter retrospective cohort

European journal of neurology, 2023-08, Vol.30 (8), p.2506-2517

2023

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Caveolinopathy: Clinical, histological, and muscle imaging features and follow‐up in a multicenter retrospective cohort

European journal of neurology, 2023-08, Vol.30 (8), p.2506-2517

2023

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Usefulness of free light chain measurement in monoclonal gammopathy, other haematological malignancies and autoimmune diseases

Annales de biologie clinique (Paris), 2019-08, Vol.77 (4), p.397

2019

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An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14

Neuromuscular disorders : NMD, 2023-10, Vol.33 (10), p.817-821

2023

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NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights

Journal of assisted reproduction and genetics, 2024, Vol.41 (1), p.135-146

2024

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Shifting the landscape: Dominant C‐terminal rare missense FOXL2 variants in non‐syndromic primary ovarian failure etiology

Clinical genetics, 2024-07, Vol.106 (1), p.102-108

2024

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Towards a generalization of non-invasive prenatal diagnosis of single-gene disorders? Assesment and outlook

Gynécologie, obstétrique, fertilité & sénologie, 2023-10, Vol.51 (10), p.463-470

2023

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Vers une généralisation du diagnostic prénatal non-invasif des maladies monogéniques ? État des lieux et perspectives

Gynécologie, obstétrique, fertilité & sénologie, 2023-07

2023

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InCode: Continuous Quality Assessment and Improvement

McC and Mc#: Unified C++ and C# Design Facts Extractors Tools

Gene expression of protein synthesis, immunity and brain pathways specifically altered in Anorexia Nervosa

Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation

A retrospective cohort study and review of the literature about germline mosaicism in Duchenne/Becker muscular dystrophy prenatal counseling: How to estimate the recurrence risk in clinical settings?

Continuous quality assessment with inCode

The value of plasma cell-free DNA levels as biomarker in patients with eating disorders: A preliminary study

A systematic literature review and meta-analysis of circulating nucleic acids as biomarkers in psychiatry

Molecular Characterization of a Rare Case of Monozygotic Dichorionic Diamniotic Twin Pregnancy after Single Blastocyst Transfer in Preimplantation Genetic Testing (PGT)

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

Non‐invasive prenatal diagnosis of single gene disorders by paternal mutation exclusion: 3 years of clinical experience

Apports et limites de la réalité virtuelle dans les pratiques médicales en 2020

Non‐invasive prenatal diagnosis of single gene disorders by paternal mutation exclusion: 3years of clinical experience

P342 An early onset benign myopathy with glycogen storage caused by a de novo 1.3 microdeletion of chromosome 14

How a paternal uniparental isodisomy of chromosome 17 leads to autosomal recessive limb-girdle muscular dystrophy R3

Revisiting GDF9 variants in primary ovarian insufficiency: A shift from dominant to recessive pathogenicity?

Non-invasive Prenatal Diagnosis of Single Gene Disorders by Paternal Mutation Exclusion: 3 Years of Clinical Experience

Caveolinopathy: Clinical, histological, and muscle imaging features and follow‐up in a multicenter retrospective cohort

Caveolinopathy: Clinical, histological, and muscle imaging features and follow‐up in a multicenter retrospective cohort

Usefulness of free light chain measurement in monoclonal gammopathy, other haematological malignancies and autoimmune diseases

An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14

NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights

Shifting the landscape: Dominant C‐terminal rare missense FOXL2 variants in non‐syndromic primary ovarian failure etiology

Towards a generalization of non-invasive prenatal diagnosis of single-gene disorders? Assesment and outlook

Vers une généralisation du diagnostic prénatal non-invasif des maladies monogéniques ? État des lieux et perspectives

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