Juliette Piard

Oct 23, 2024 | nature.com | Angela Peron |Kimberly A Aldinger |Christiane Zweier |Erica Andersen |Lynne M. Bird |Ange-Line Bruel | +11 more

AbstractAn increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.a. Dias-Logan syndrome) ascertained through an international collaborative network, and reviewed 35 additional previously reported patients.

Oct 23, 2024 | nature.com | Angela Peron |Kimberly A Aldinger |Christiane Zweier |Erica Andersen |Lynne M. Bird |Ange-Line Bruel | +11 more

AbstractAn increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.a. Dias-Logan syndrome) ascertained through an international collaborative network, and reviewed 35 additional previously reported patients.

Apr 2, 2024 | nature.com | Alix Paulet |Andrew Green |Rosalyn Jewell |Minna Kraatari-Tiri |Juliette Piard |Wayne Lam | +11 more

Correction to: European Journal of Human Genetics https://doi.org/10.1038/s41431-024-01560-8, published online 15 February 2024In the original version of this article, the given and family names of Samuel Groeschel were incorrectly structured. The name was displayed correctly in all versions at the time of publication.

Feb 14, 2024 | nature.com | Andrew Green |Rosalyn Jewell |Minna Kraatari-Tiri |Juliette Piard |Wayne Lam |Francis Ramond | +11 more

AbstractTranslation elongation factor eEF1A2 constitutes the alpha subunit of the elongation factor-1 complex, responsible for the enzymatic binding of aminoacyl-tRNA to the ribosome. Since 2012, 21 pathogenic missense variants affecting EEF1A2 have been described in 42 individuals with a severe neurodevelopmental phenotype including epileptic encephalopathy and moderate to profound intellectual disability (ID), with neurological regression in some patients.