Gwenael Le Guyader
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Explore the profile of Gwenael Le Guyader including associated specialties, affiliations and a list of published articles.
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34
Citations
361
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Recent Articles
1.
Adamo-Croux M, Auger-Gilli A, Guyader G, Aubin-Courjault J, Margot H, Bar C, et al.
Arch Pediatr
. 2024 May;
31(5):320-325.
PMID: 38719651
Introduction: KBG syndrome is an autosomal dominant, polymalformative genetic syndrome that is mainly associated with neurodevelopmental and learning disorders, intellectual disability, behavioral disorders, and epilepsy as well as characteristic dysmorphic...
2.
Mazel B, Delanne J, Garde A, Racine C, Bruel A, Duffourd Y, et al.
Am J Med Genet B Neuropsychiatr Genet
. 2024 Mar;
195(6):e32970.
PMID: 38459409
Since 2008, FOXG1 haploinsufficiency has been linked to a severe neurodevelopmental phenotype resembling Rett syndrome but with earlier onset. Most patients are unable to sit, walk, or speak. For years,...
3.
de Masfrand S, Cogne B, Nizon M, Deb W, Goldenberg A, Lecoquierre F, et al.
Eur J Med Genet
. 2024 Mar;
69:104932.
PMID: 38453051
Purpose: Incomplete penetrance is observed for most monogenic diseases. However, for neurodevelopmental disorders, the interpretation of single and multi-nucleotide variants (SNV/MNVs) is usually based on the paradigm of complete penetrance....
4.
Massier M, Doco-Fenzy M, Egloff M, Le Guillou X, Guyader G, Redon S, et al.
Am J Med Genet A
. 2024 Feb;
194(7):e63531.
PMID: 38421086
Duplications of the 3q29 cytoband are rare chromosomal copy number variations (CNVs) (overlapping or recurrent ~1.6 Mb 3q29 duplications). They have been associated with highly variable neurodevelopmental disorders (NDDs) with...
5.
Nicolas G, Zarea A, Lacour M, Quenez O, Rousseau S, Richard A, et al.
Genet Med
. 2024 Jan;
26(5):101082.
PMID: 38281098
Purpose: To assess the likely pathogenic/pathogenic (LP/P) variants rates in Mendelian dementia genes and the moderate-to-strong risk factors rates in patients with Alzheimer disease (AD). Methods: We included 700 patients...
6.
Riquin K, Isidor B, Mercier S, Nizon M, Colin E, Bonneau D, et al.
J Med Genet
. 2023 Jul;
61(1):47-56.
PMID: 37495270
Background: Molecular diagnosis of neurodevelopmental disorders (NDDs) is mainly based on exome sequencing (ES), with a diagnostic yield of 31% for isolated and 53% for syndromic NDD. As sequencing costs...
7.
Lewis S, Bakhtiari S, Forstrom J, Bayat A, Bilan F, Guyader G, et al.
Dis Model Mech
. 2023 Jul;
16(9).
PMID: 37470098
AGAP1 is an Arf1 GTPase-activating protein that regulates endolysosomal trafficking. Damaging variants have been linked to cerebral palsy and autism. We report three new cases in which individuals had microdeletion...
8.
Schonauer R, Jin W, Findeisen C, Valenzuela I, Devlin L, Murrell J, et al.
Am J Hum Genet
. 2023 May;
110(6):998-1007.
PMID: 37207645
While common obesity accounts for an increasing global health burden, its monogenic forms have taught us underlying mechanisms via more than 20 single-gene disorders. Among these, the most common mechanism...
9.
Bouassida M, Egloff M, Levy J, Chatron N, Bernardini L, Guyader G, et al.
Eur J Hum Genet
. 2023 May;
31(8):895-904.
PMID: 37188826
Microduplications involving the MYT1L gene have mostly been described in series of patients with isolated schizophrenia. However, few reports have been published, and the phenotype has still not been well...
10.
Caron V, Chassaing N, Ragge N, Boschann F, Ngu A, Meloche E, et al.
Genet Med
. 2023 Apr;
25(8):100856.
PMID: 37092537
Purpose: Dominant variants in the retinoic acid receptor beta (RARB) gene underlie a syndromic form of microphthalmia, known as MCOPS12, which is associated with other birth anomalies and global developmental...