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David Genevieve

Explore the profile of David Genevieve including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 165
Citations 3358
Followers 0
Related Specialties
Genetics
General Medicine
Neurology
Top 10 Co-Authors
Laurence Faivre
Marjolaine Willems
Valerie Cormier-Daire
Sylvie Odent
Didier Lacombe
Bertrand Isidor
Alice Goldenberg
Stanislas Lyonnet
Christine Coubes
Julien Thevenon
Published In
Eur J Hum Genet
Genet Med
Am J Med Genet A
Am J Hum Genet
J Med Genet
Affiliations
Soon will be listed here.
Recent Articles
1.
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature
Houdayer C, Rooney K, van der Laan L, Bris C, Alders M, Bahr A, et al.
Eur J Hum Genet . 2025 Mar; PMID: 40044822
Rare genetic variants in ARID2 are responsible for a recently described neurodevelopmental condition called ARID2-related disorder (ARID2-RD). ARID2 belongs to PBAF, a unit of the SWI/SNF complex, which is a...
2.
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum
Verbinnen I, Douzgou Houge S, Hsieh T, Lesmann H, Kirchhoff A, Genevieve D, et al.
Am J Hum Genet . 2025 Feb; 112(3):554-571. PMID: 39978342
Pathogenic variants resulting in protein phosphatase 2A (PP2A) dysfunction result in mild to severe neurodevelopmental delay. PP2A is a trimer of a catalytic (C) subunit, scaffolding (A) subunit, and substrate...
3.
AUTS2-related Syndrome: Insights from a large European cohort
Loberti L, Adamo L, Antolini E, Casamassima G, Destree A, Brunetti-Pierri N, et al.
Genet Med . 2025 Feb; :101375. PMID: 39953909
Purpose: AUTS2-related syndrome is a condition characterized by developmental delay, autism spectrum disorder, and intellectual disability. From alternative promoters AUTS2 encodes two distinct long and short isoforms encoding a putative...
4.
Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature
Fischer J, Alders M, Mannens M, Genevieve D, Hackmann K, Schrock E, et al.
Clin Epigenetics . 2025 Jan; 17(1):5. PMID: 39800774
Autosomal dominant CDK13-related disease is characterized by congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD). Heterozygous pathogenic variants, particularly missense variants in the kinase domain, have previously...
5.
Use of Prenatal Exome Sequencing: Opinion Statement of the French Federation of Human Genetics Working Group
Cogan G, Troadec M, Devillard F, Saint-Frison M, Genevieve D, Vialard F, et al.
Prenat Diagn . 2024 Nov; 45(3):299-309. PMID: 39532683
Objective: Prenatal whole exome sequencing (pES) is increasingly prescribed for fetuses with ultrasound anomalies. Starting from the local French prenatal medicine practice, healthcare system and legal landscape, we aimed to...
6.
Abnormal Immune Profile in Individuals with Kabuki Syndrome
Comel M, Saad N, Sil D, Apparailly F, Willems M, Djouad F, et al.
J Clin Immunol . 2024 Sep; 45(1):7. PMID: 39264387
Objective: To analyze the lymphocyte subsets in individuals with Kabuki syndrome for better characterizing the immunological phenotype of this rare congenital disorder. Methods: We characterized the immunological profile including B-,...
7.
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement
LaFlamme C, Rastin C, Sengupta S, Pennington H, Russ-Hall S, Schneider A, et al.
Nat Commun . 2024 Aug; 15(1):6524. PMID: 39107278
Sequence-based genetic testing identifies causative variants in ~ 50% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA methylation are implicated in various neurodevelopmental disorders but remain...
8.
Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid
Haghshenas S, Putoux A, Reilly J, Levy M, Relator R, Ghosh S, et al.
Genet Med . 2024 Aug; 26(10):101226. PMID: 39097820
Purpose: Valproic acid or valproate is an effective antiepileptic drug; however, embryonic exposure to valproate can result in a teratogenic disorder referred to as fetal valproate syndrome (OMIM #609442). Currently...
9.
RNA variant assessment using transactivation and transdifferentiation
Nicolas-Martinez E, Robinson O, Pflueger C, Gardner A, Corbett M, Ritchie T, et al.
Am J Hum Genet . 2024 Jul; 111(8):1673-1699. PMID: 39084224
Understanding the impact of splicing and nonsense variants on RNA is crucial for the resolution of variant classification as well as their suitability for precision medicine interventions. This is primarily...
10.
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
Rots D, Bouman A, Yamada A, Levy M, Dingemans A, de Vries B, et al.
Am J Hum Genet . 2024 Jul; 111(8):1605-1625. PMID: 39013458
The shift to a genotype-first approach in genetic diagnostics has revolutionized our understanding of neurodevelopmental disorders, expanding both their molecular and phenotypic spectra. Kleefstra syndrome (KLEFS1) is caused by EHMT1...