Publications and ressources

Oncogenetic landscape of lymphomagenesis in coeliac disease.

Sascha CORDING, Georgia MALAMUT, Sofia BERRABAH, Nicolas GUEGAN, Bertrand MERESSE, Michael Dussiot, Olivier Hermine, Nadine CERF-BENSUSSAN

Source :

Pmid / DOI:

Adenylate kinase 2 expression and addiction in T-ALL.

Emmanuelle SIX, Chantal LAGRESLE-PEYROU

Source :

Pmid / DOI:

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.

Jeanne Amiel, Chris Gordon

Source :

Pmid / DOI:

Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.

Jérémie Rosain, Brigitte Bader-Meunier, Olivier Hermine, Felipe Suarez, Isabelle André, Vivien Beziat, Geneviève de Saint Basile, Jean-Pierre De Villartay, Sven KRACKER, Chantal LAGRESLE-PEYROU, Sylvain Latour, Frédéric Rieux-Laucat, Christine Bole, Patrick Nitschké, Alain Fischer, Despina Moshous, Bénédicte Neven, Alexandre Alcaïs, Jacinta Bustamante

Source :

Pmid / DOI:

Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.

Jérémie Rosain, Brigitte Bader-Meunier, Olivier Hermine, Felipe Suarez, Isabelle André, Vivien Beziat, Geneviève de Saint Basile, Jean-Pierre De Villartay, Sven KRACKER, Chantal LAGRESLE-PEYROU, Sylvain Latour, Frédéric Rieux-Laucat, Christine Bole, Patrick Nitschké, Alain Fischer, Despina Moshous, Bénédicte Neven, Alexandre Alcaïs, Jacinta Bustamante

Source :

Pmid / DOI:

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia.

Christelle Arrondel, Tania Attié-Bitach, Corinne Antignac, Sophie Saunier, Laurence Heidet

Source :

Pmid / DOI:

Genome Editing for β-Hemoglobinopathies: Advances and Challenges.

Giacomo Frati, Annarita Miccio

Source :

Pmid / DOI:

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

Source :

Pmid / DOI:

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

Source :

Pmid / DOI:

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

Lydie Burglen

Source :

Pmid / DOI:

A Genome Editing System for Therapeutical Targeting of Stem Cells.

Giacomo Frati, Annarita Miccio

Source :

Pmid / DOI:

Base and Prime Editing Technologies for Blood Disorders.

Panagiotis Antoniou, Annarita Miccio , Mégane Brusson

Source :

Pmid / DOI:

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

Source :

Pmid / DOI:

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, Volodia Dangouloff-Ros

Source :

Pmid / DOI:

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

Alice Lepelley, Marie-Therese El-Daher, Marie-Louise Frémond, Luís Seabra, Yanick Crow

Source :

Pmid / DOI: