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American Journal of Medical Genetics. Part A|March 19, 2025
Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2 -Related Disorders to a Syndromic Multiple Tumor PhenotypeMarie Lucain, Antonio Vitobello, Bekim Sadikovic, et al.Molecular Genetics & Genomic Medicine|April 16, 2025
First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende-Gupta and 22q11.2 Deletion SyndromesCaroline Racine, Aurore Garde, Olivia Martz, et al.Journal of Neurology|July 13, 2024
Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3AAngélique Hamamie-Chaar, Mathilde Renaud, Pinar Gençpinar, et al.American Journal of Medical Genetics. Part A|September 5, 2024
Expanding MNS1 Heterotaxy PhenotypeJulien Maraval, Andrée Delahaye-Duriez, Caroline Racine, et al.European Journal of Human Genetics : EJHG|January 10, 2024
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorderFatimah Albuainain, Yuwei Shi, Sarah Lor-Zade, et al.Human Genetics|December 20, 2023
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individualsAriane Schmetz, Hermann-Josef Lüdecke, Harald Surowy, et al.American Journal of Human Genetics|February 7, 2024
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestaltJames L Shepherdson, Katie Hutchison, Dilan Wellalage Don, et al.Nature Communications|January 23, 2026
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disordersKevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer, et al.Annales D'Endocrinologie|May 8, 2026
Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditionsLaurence Faivre, Camille Level, Régis Coutant, et al.Annales D'Endocrinologie|March 21, 2026
Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditionsLaurence Faivre, Camille Level, Régis Coutant, et al.Pageof 2