Nathalie Ruiz-Pallares

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals

Quentin Sabbagh, Camille Cenni, Sadegheh Haghshenas, Jean‐Luc Alessandri et autres

nl, fr, ca, re, dk, gb, it, ru, us, ch, es (code pays fourni par la source)

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective

Liselot van der Laan, Karim Karimi, Kathleen Rooney, Marielle M. Alders et autres

nl, ca, it, es, us, fr, au, de (code pays fourni par la source)

Reverse genotyping: unveiling Alu element insertion as a new cause of Kabuki syndrome using DNA methylation signature

Quentin Sabbagh, Nathalie Ruiz-Pallares, Cassandra Rastin, Jacques Puechberty et autres

Kabuki syndrome type 1 (KS1) is a monogenic disorder arising from pathogenic variants within KMT2D and characterized by syndromic neurodevelopmental delay. We report the retrospective identification of a causative AluY insertion within KMT2D in a genetically unsolved individual with typical KS1 features, …

fr, ca (code pays fourni par la source)

Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid

Sadegheh Haghshenas, Audrey Putoux, Jack Reilly, Michael A. Levy et autres

ca, fr, es, gb (code pays fourni par la source)

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals

Quentin Sabbagh, Sadegheh Haghshenas, Juliette Piard, Chloé Trouvé et autres

fr, ca, us, it, gb, nl (code pays fourni par la source)

Lessons from two series by physicians and caregivers’ self-reported data, and DNA methylation profile in DDX3X-Related Disorders

David Geneviève, Valentin Ruault, Pauline Burger, Johanna Gradels‐Hauguel et autres

fr, us, re, cz, in, it, de, ca (code pays fourni par la source)

Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly

Quentin Sabbagh, Mylène Tharreau, Camille Cenni, Elodie Sanchez et autres

fr (code pays fourni par la source)

Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective

Constance F. Wells, Guilaine Boursier, Kévin Yauy, Nathalie Ruiz-Pallares et autres

fr (code pays fourni par la source)

CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature

Flavien Rouxel, Raissa Relator, Jennifer Kerkhof, Haley McConkey et autres

fr, ca, au, nl (code pays fourni par la source)

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro, Groupe DI France et autres

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro, Mouna Barat‐Houari et autres

ca, fr, nl, it, jp, us, au (code pays fourni par la source)

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome

Laurence Faivre, Philippe Khau Van Kien, Patrick Callier, Nathalie Ruiz-Pallares et autres

fr (code pays fourni par la source)