Anne-claude C. Tabet
Paris, France
Last Updated: 09/26/2026
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Found 52 publications
A Genetic Bridge Between Medicine and Neurodiversity for Autism.
Journal: Annual review of genetics
Published: November 25, 2024
AUTS2-related syndrome: Insights from a large European cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 28, 2024
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.
Journal: American journal of human genetics
Published: July 22, 2024
2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.
Journal: Journal of clinical immunology
Published: June 25, 2024
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
Journal: Nature communications
Published: July 25, 2023
Expanding the phenotype of GTF2E2-associated trichothiodystrophy.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: May 29, 2023
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Journal: Prenatal diagnosis
Published: December 14, 2022
Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome.
Journal: European journal of medical genetics
Published: December 09, 2022
2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review.
Journal: European journal of human genetics : EJHG
Published: October 02, 2022
The different clinical facets of SYN1-related neurodevelopmental disorders.
Journal: Frontiers in cell and developmental biology
Published: August 15, 2022
Last Updated: 09/26/2026