Anne-Sophie Denommé-Pichon

May 26, 2024 | nature.com | Éléonore Viora-Dupont |Gaetan Lesca |Antonio Vitobello |Anne-Sophie Denommé-Pichon |Ange-Line Bruel |Frédéric Tran Mau-Them | +10 more

AbstractGeneration and subsequently accessibility of secondary findings (SF) in diagnostic practice is a subject of debate around the world and particularly in Europe. The French FIND study has been set up to assess patient/parent expectations regarding SF from exome sequencing (ES) and to collect their real-life experience until 1 year after the delivery of results.

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.

Dec 21, 2023 | jmg.bmj.com | Caroline A. Racine |Anne-Sophie Denommé-Pichon |Camille Engel |Frédéric Tran Mau-Them

Collaborators Orphanomix Physician’s Group: Alain Verloes, Alice Goldenberg, Alice Masurel, Aline Vincent, Anne-Marie Frances-Guidet, Aude Tessier, Audrey Putoux, Béatrice Laudier, Bénédicte Demeer, Benoit Funalot, Bérénice Doray, Brigitte Gilbert-Dussardier, Bruno Leheup, Céline Poirsier, Charlotte Dubucs, Christine Chiaverini, Christine Coubes, Christine Francannet, Cindy Colson, Claire Bansept, Constance Wells, Cyril Goizet, Cyril Mignot, Daniel Amram, Daniel Amsallem, Didier Lacombe,...

Aug 15, 2023 | jmg.bmj.com | Caroline A. Racine |Anne-Sophie Denommé-Pichon |Camille Engel |Frédéric Tran Mau-Them

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases Statistics from Altmetric.com Request Permissions If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.