Publications and ressources

A human YEATS4 variant confers resistance to TST and IGRA conversion despite Mycobacterium tuberculosis exposure.

Jeremy Manry, Yoann Seeleuthner, Gaspard Kerner, Stéphanie Boisson-Dupuis, Jean-Laurent CASANOVA , Laurent Abel , Aurélie Cobat

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MosCoverY: A method to estimate mosaic loss of Y chromosome from sequencing coverage data.

Laurent Abel , Aurélie Cobat

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Plasticity of ventricle position after heart looping in heterotaxy with right isomerism.

Audrey Desgrange, Emeline Perthame, Laurent GUILLEMOT, Marie-Amandine CHABRY, Olivier Raisky, Ségolène Bernheim , Lucile Houyel

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A prime editing strategy to rewrite the γ-globin promoters and reactivate fetal hemoglobin for sickle cell disease

Anne Chalumeau, Maria Bou Dames, Letizia Fontana, Simone Amistadi, Panagiotis Antoniou, Priyanka Loganathan, Annarita Miccio , Mégane Brusson

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Intraoperative and Long-Term Multimodal Radiological Assessment of Brain MR-guided Laser Interstitial Thermal Therapy (MRgLITT) in Children.

Lelio Guida, Ludovic Fillon, Rima NABBOUT, Thomas Blauwblomme, Nathalie Boddaert, Volodia Dangouloff-Ros

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Dissecting the epigenetic regulation of the fetal hemoglobin genes to unravel a novel therapeutic approach for β-hemoglobinopathies

Simone Amistadi, Letizia Fontana, Tristan Felix, Pierre Martinucci, Candice Gautier, Panagiotis Antoniou, Eric Allemand, Annarita Miccio

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Establishment of a double blood circulation in the developing mouse heart

Sigolène Meilhac

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Spatiotemporal dynamics of mouse heart tube development

Sigolène Meilhac

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Response to Karp-Tatham et al.

Astrid Marchal, Laurent Abel , Jean-Laurent CASANOVA , Aurélie Cobat

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Differential contribution of P73+ Cajal-Retzius cells and Reelin to cortical morphogenesis.

Vicente Elorriaga, Elodie Delberghe, Yoann Saillour, Patrick Azzam, Nadia Bahi-Buisson, Alessandra Pierani, Frédéric Causeret

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Notch3 is an asymmetric gene and a modifier of heart looping defects in Nodal mouse mutants.

Marie-Amandine CHABRY, Emeline Perthame, Audrey Desgrange, Tobias Holm Bønnelykke

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Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.

Blaise Didry-Barca, Luís Seabra, Mélanie Parisot, Patrick Nitschké, Isabelle Melki, Marie-Louise Frémond, Marie-Therese El-Daher, Alice Lepelley

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Chloride deregulation and GABA depolarization in MTOR-related malformations of cortical development.

Giulia Barcia, Edor Kabashi, Rima NABBOUT, Sorana CIURA, Thomas Blauwblomme

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Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.

Quentin Hennocq, Jeanne Amiel, Thomas Bongibault, Valérie Cormier-Daire, Stanislas Lyonnet, Marlène Rio, Nicolas Garcelon

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GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.

Andrea Zanetti, Lucas FARES-TAIE, Jeanne Amiel, Pierre David, Nathalie Boddaert, Jean-Michel Rozet, Isabelle Perrault

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