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Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.

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Bibliographic Details
Title:	Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.
Authors:	El Chehadeh, Salima^1,2 (AUTHOR), Heide, Solveig³ (AUTHOR), Quélin, Chloé⁴ (AUTHOR), Rio, Marlène^5,6 (AUTHOR), Margot, Henri^7,8 (AUTHOR), Geneviève, David^9,10 (AUTHOR), Isidor, Bertrand^11,12 (AUTHOR), Goldenberg, Alice^13,14 (AUTHOR), Guégan, Caroline^13,14 (AUTHOR), Lesca, Gaëtan^15,16 (AUTHOR), Willems, Marjolaine^9,10 (AUTHOR), Ormières, Clothilde^5,6 (AUTHOR), Caumes, Roseline¹⁷ (AUTHOR), Busa, Tiffany¹⁸ (AUTHOR), Bonneau, Dominique¹⁹ (AUTHOR), Guerrot, Anne-Marie^13,14 (AUTHOR), Marey, Isabelle^20,21 (AUTHOR), Vera, Gabriella^13,14 (AUTHOR), Marzin, Pauline^5,6 (AUTHOR), Philippe, Anaïs¹ (AUTHOR)
Source:	Genome Medicine. 10/3/2025, Vol. 17 Issue 1, p1-28. 28p.
Database:	Academic Search Ultimate
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Description
ISSN:	1756994X
DOI:	10.1186/s13073-025-01527-4