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Immunomodulatory Drugs Exert Anti-Leukemia Effects in Acute Myeloid Leukemia by Direct and Immunostimulatory Activities

Frontiers in immunology, 2018-05, Vol.9, p.977-977

2018

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Extension of the phenotypic spectrum of GLE1‐related disorders to a mild congenital form resembling congenital myopathy

Molecular genetics & genomic medicine, 2020-08, Vol.8 (8), p.e1277-n/a

2020

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N°179 – NAPB and developmental and epileptic encephalopathy: Description of the electro-clinical profile associated to a novel pathogenic variant

Clinical neurophysiology, 2023-06, Vol.150, p.e128-e128

2023

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Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability

Human molecular genetics, 2024-02, Vol.33 (6), p.520-529

2024

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Genetics of neonatal onset epilepsies: An overview

Revue neurologique, 2020-01, Vol.176 (1-2), p.2-9

2020

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NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant

Epilepsia (Copenhagen), 2023-06, Vol.64 (6), p.e127-e134

2023

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Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant

Prenatal diagnosis, 2024-03, Vol.44 (3), p.364-368

2024

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The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community

European journal of human genetics : EJHG, 2022-03, Vol.30 (3), p.252-255

2022

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Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression‐burst

Human mutation, 2018-07, Vol.39 (7), p.934-938

2018

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Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients

Genetics in medicine, 2021, Vol.23 (8), p.1574-1577

2021

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A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports

Scientific reports, 2020-04, Vol.10 (1), p.6247-6247, Article 6247

2020

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Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases

Journal of medical genetics, 2024-01, Vol.61 (1), p.36

2024

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Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders

Orphanet journal of rare diseases, 2020-04, Vol.15 (1), p.103-103, Article 103

2020

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Diagnosis of a rare and severe inflammatory bowel disease in an infant with peri-orificial ulcerations

Annales de pathologie, 2022-10, Vol.42 (5), p.432-437

2022

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Diagnostic d’une maladie inflammatoire rare et sévère de l’intestin chez un nourrisson présentant des ulcérations péri-orificielles

Annales de pathologie, 2022-10, Vol.42 (5), p.432-437

2022

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Correspondence on “De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females” by Polla et al

Genetics in medicine, 2021-10, Vol.23 (10), p.2003-2004

2021

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L’examen des oreilles en anténatal : quand, comment et pourquoi ?

Gynécologie, obstétrique, fertilité & sénologie, 2022-09, Vol.50 (9), p.624-637

2022

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Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

American journal of medical genetics. Part A, 2016-11, Vol.170A (11), p.2847-2859

2016

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10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

Orphanet journal of rare diseases, 2021-08, Vol.16 (1), p.1-345, Article 345

2021

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Diagnosis of a rare and severe inflammatory bowel disease in an infant with peri-orificial ulcerations

Annales de pathologie, 2022-10

2022

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Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1405-1417

2021

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Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy

Annals of clinical and translational neurology, 2020-12, Vol.7 (12), p.2538-2540

2020

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Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant

Prenatal diagnosis, 2024, Vol.44 (3), p.364-368

2024

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Benzothiazinones Are Suicide Inhibitors of Mycobacterial Decaprenylphosphoryl-β-d-ribofuranose 2′-Oxidase DprE1

Journal of the American Chemical Society, 2012-01, Vol.134 (2), p.912-915

2012

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Immunomodulatory Drugs Exert Anti-Leukemia Effects in Acute Myeloid Leukemia by Direct and Immunostimulatory Activities

Extension of the phenotypic spectrum of GLE1‐related disorders to a mild congenital form resembling congenital myopathy

N°179 – NAPB and developmental and epileptic encephalopathy: Description of the electro-clinical profile associated to a novel pathogenic variant

Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability

Genetics of neonatal onset epilepsies: An overview

NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant

Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant

The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community

Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression‐burst

Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients

A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases

Clinical and molecular characterization of patients with YWHAG-related epilepsy

Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders

Diagnosis of a rare and severe inflammatory bowel disease in an infant with peri-orificial ulcerations

Diagnostic d’une maladie inflammatoire rare et sévère de l’intestin chez un nourrisson présentant des ulcérations péri-orificielles

Correspondence on “De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females” by Polla et al

L’examen des oreilles en anténatal : quand, comment et pourquoi ?

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

Diagnosis of a rare and severe inflammatory bowel disease in an infant with peri-orificial ulcerations

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy

Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant

Benzothiazinones Are Suicide Inhibitors of Mycobacterial Decaprenylphosphoryl-β-d-ribofuranose 2′-Oxidase DprE1

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