Publications and ressources

Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes.

Giulia Barcia, Nicolas Garcelon, Edor Kabashi, Rima NABBOUT

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MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.

Lydie Burglen

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A Genome Editing System for Therapeutical Targeting of Stem Cells.

Giacomo Frati, Annarita Miccio

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Base and Prime Editing Technologies for Blood Disorders.

Panagiotis Antoniou, Annarita Miccio , Mégane Brusson

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Seletalisib for Activated PI3Kδ Syndromes: Open-Label Phase 1b and Extension Studies.

Despina Moshous, Felipe Suarez, Marina Cavazzana, Sven KRACKER

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Complete hemispherotomy leads to lateralized functional organization and lower level of consciousness in the isolated hemisphere.

Thomas Blauwblomme, Ludovic Fillon, Nathalie Boddaert, Rima NABBOUT, Jean-Marc Tacchella

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Emerging drugs for the treatment of epidermolysis bullosa.

Matthias Titeux, Mathilde Bonnet des Claustres, Araksya Izmiryan, Hélène Ragot, Alain Hovnanian

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cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.

Alice Lepelley, Yanick Crow , Marie-Louise Frémond, Luís Seabra

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MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.

Ekin ucuncu, Karthyayani Rajamani , Nami Altin, Pierre David, Giulia Barcia, Nathalie Lefort, Céline BANAL, Patrick Nitschké, Arnold Munnich, Nadia Bahi-Buisson, Lydie Burglen, Nathalie Boddaert, Vincent Cantagrel

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Arterial spin labeling brain MRI study to evaluate the impact of deafness on cerebral perfusion in 79 children before cochlear implantation.

Ludovic Fillon, Ana Saitovitch, Sandrine Marlin, Jennifer Boisgontier, Alice Vinçon-Leite, Hervé Lemaître, Monica Zilbovicius , Nathalie Boddaert, Caroline Rutten

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Rest Functional Brain Maturation during the First Year of Life.

Hervé Lemaître, Pierre Augé, Ana Saitovitch, Alice Vinçon-Leite, Jean-Marc Tacchella, Ludovic Fillon, Nathalie Boddaert, Monica Zilbovicius

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Transient Nodal Signaling in Left Precursors Coordinates Opposed Asymmetries Shaping the Heart Loop.

Audrey Desgrange, Ségolène Bernheim , Tobias Holm Bønnelykke, Sigolène Meilhac

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Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients

Marie-Louise Frémond, Alice Lepelley, Luís Seabra, Yanick Crow

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Transient Nodal Signaling in Left Precursors Coordinates Opposed Asymmetries Shaping the Heart Loop.

Audrey Desgrange, Ségolène Bernheim

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Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling.

Alice Lepelley, Bénédicte Neven, Luís Seabra, Marie-Louise Frémond, Yanick Crow

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