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Bertrand Isidor

Explore the profile of Bertrand Isidor including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 319
Citations 6052
Followers 0
Related Specialties
Genetics
Neurology
General Medicine
Top 10 Co-Authors
Benjamin Cogne
Cedric Le Caignec
Laurence Faivre
Stephane Bezieau
Mathilde Nizon
Marie Vincent
Albert David
Sylvie Odent
Boris Keren
Sebastien Kury
Published In
Am J Hum Genet
Am J Med Genet A
Genet Med
Eur J Hum Genet
Hum Mutat
Affiliations
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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.
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management
Contro G, Baroni M, Caraffi S, Napoli M, Artuso R, Giliberti A, et al.
Clin Genet . 2025 Feb; PMID: 39971730
In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in CDK13 and sharing major clinical features mainly consisting of congenital heart defects, intellectual disability...
3.
Real-World Safety and Effectiveness of Vosoritide in Children with Achondroplasia: French Early Access Program
Cormier-Daire V, Edouard T, Isidor B, Mukherjee S, Pimenta J, Rossi M, et al.
Horm Res Paediatr . 2025 Jan; :1-9. PMID: 39864410
Introduction: Vosoritide is the first approved treatment for achondroplasia, a rare genetic disorder that results in disproportionate short stature. In clinical trials, vosoritide has shown a positive safety profile and...
4.
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations
Jeanne M, Ronce N, Remize S, Arpin S, Baujat G, Breton S, et al.
J Med Genet . 2025 Jan; PMID: 39798962
Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom...
5.
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
Lessel I, Baresic A, Chinn I, May J, Goenka A, Chandler K, et al.
Am J Hum Genet . 2025 Jan; 112(2):394-413. PMID: 39798569
BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants...
6.
Phenotype Spectrum of TRPM3-Associated Disorders
Jolitz L, Helbig I, Fitzgerald M, McKeown Ruggiero S, Cohen S, Angelini C, et al.
Ann Neurol . 2025 Jan; 97(3):561-570. PMID: 39749750
Objective: Monoallelic variants in the transient receptor potential melastatin-related type 3 gene (TRPM3) have been associated with neurodevelopmental manifestations, but knowledge on the clinical manifestations and treatment options is limited....
7.
RICTOR variants are associated with neurodevelopmental disorders
Carapito R, Molitor A, Pavinato L, Skeyni A, Lambert M, Pichot A, et al.
Eur J Hum Genet . 2024 Dec; PMID: 39738822
RICTOR is a key component of the mTORC2 signaling complex which is involved in the regulation of cell growth, proliferation and survival. RICTOR is highly expressed in neurons and is...
8.
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder
Elkhateeb N, Crookes R, Spiller M, Pavinato L, Palermo F, Brusco A, et al.
Genet Med . 2024 Dec; 27(3):101348. PMID: 39737487
Purpose: The thousand and one kinase (TAOK) proteins are a group of serine/threonine-protein kinases involved in signaling pathways, cytoskeleton regulation, and neuronal development. TAOK1 variants are associated with a neurodevelopmental...
9.
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures
Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, et al.
Genet Med . 2024 Dec; 27(4):101347. PMID: 39707840
Purpose: RORA encodes the RAR-related orphan receptor-α, playing a pivotal role in cerebellar maturation and function. Here, we report the largest series of individuals with RORA-related-neurodevelopmental disorder. Methods: Forty individuals...
10.
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG)
Ghasemi M, Tehrani Fateh S, Ben-Mahmoud A, Gupta V, Stuhn L, Lesca G, et al.
Am J Med Genet A . 2024 Dec; :e63963. PMID: 39707601
The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) encompasses a spectrum of neurodevelopmental disorders characterized by intellectual disability (ID), language/speech delay, attention issues, and epilepsy. These conditions arise...