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A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.

Jean-Laurent CASANOVA

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NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans.

Antonio Rausell

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Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations.

Aurore Carre, Athanasia Stoupa, Michel Polak

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Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice.

Tania Attié-Bitach, Sophie Thomas

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Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis.

Laurent Abel , Aurélie Cobat, Jean-Laurent CASANOVA

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Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.

Geneviève de Saint Basile, Fernando Sepulveda

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Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis.

Nadine CERF-BENSUSSAN

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Inhibition of the Interleukin-36 Pathway for the Treatment of Generalized Pustular Psoriasis.

Hervé Bachelez

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Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain-of-Function Mutation.

Marianna Parlato, Fabienne CHARBIT-HENRION, Bernadette BEGUE, Nicolas GUEGAN, Olivier Hermine, Nadine CERF-BENSUSSAN , Georgia MALAMUT

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Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain-of-Function Mutation.

Marianna Parlato, Fabienne CHARBIT-HENRION, Nicolas GUEGAN, Olivier Hermine, Nadine CERF-BENSUSSAN , Georgia MALAMUT

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Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.

Nadia Bahi-Buisson, Camille Maillard

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Mutations in TBR1 gene leads to cortical malformations and intellectual disability.

Nadia Bahi-Buisson, Camille Maillard

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Further refinement of COL4A1 and COL4A2 related cortical malformations.

Nadia Bahi-Buisson

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Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.

Valérie Malan

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Baboon envelope LVs efficiently transduced human adult, fetal, and progenitor T cells and corrected SCID-X1 T-cell deficiency.

Kuiying MA, Hanem SADEK, Marina Cavazzana, Chantal LAGRESLE-PEYROU, Isabelle André

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