Mathilde Lefebvre
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Explore the profile of Mathilde Lefebvre including associated specialties, affiliations and a list of published articles.
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46
Citations
554
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Recent Articles
1.
Feresin A, Lefebvre M, Sjostrom E, Zanus C, Paccagnella E, Bruno I, et al.
Biomolecules
. 2025 Jan;
14(12.
PMID: 39766333
Glycosylphosphatidylinositol (GPI) biosynthesis defect 11 (GPIBD11), part of the heterogeneous group of congenital disorders of glycosylation, is caused by biallelic pathogenic variants in . This rare disorder has previously been...
2.
Sabeh P, Dumas S, Maios C, Daghar H, Korzeniowski M, Rousseau J, et al.
Am J Hum Genet
. 2024 Dec;
112(1):75-86.
PMID: 39721588
E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase UBR5 in 29...
3.
Candela N, Benichou N, Lefebvre M, Gueguen L, Vieira-Martins P, El Sissy C, et al.
J Transl Autoimmun
. 2024 Nov;
9:100254.
PMID: 39554253
Objective: To compare the natural history of C3 glomerulopathy (C3G) to acute post-infectious glomerulonephritis (APIGN) in a cohort of patients with a relative homogeneity of environment conditions and genetic background....
4.
Jensen M, Smolen C, Tyryshkina A, Pizzo L, Banerjee D, Oetjens M, et al.
medRxiv
. 2024 Sep;
PMID: 39252907
Variable expressivity of disease-associated variants implies a role for secondary variants that modify clinical features. We assessed the effects of modifier variants towards clinical outcomes of 2,252 individuals with primary...
5.
Cuinat S, Quelin C, Effray C, Dubourg C, Le Bouar G, Cabaret-Dufour A, et al.
J Med Genet
. 2024 Jun;
61(9):824-832.
PMID: 38849204
Introduction: Tonne-Kalscheuer syndrome (TOKAS) is a recessive X-linked multiple congenital anomaly disorder caused by variations. Of the 41 patients reported, only 7 antenatal cases were described. Method: After the antenatal...
6.
Smolen C, Jensen M, Dyer L, Pizzo L, Tyryshkina A, Banerjee D, et al.
Am J Hum Genet
. 2023 Nov;
110(12):2015-2028.
PMID: 37979581
We examined more than 97,000 families from four neurodevelopmental disease cohorts and the UK Biobank to identify phenotypic and genetic patterns in parents contributing to neurodevelopmental disease risk in children....
7.
Smolen C, Jensen M, Dyer L, Pizzo L, Tyryshkina A, Banerjee D, et al.
medRxiv
. 2023 Jun;
PMID: 37292616
We examined more than 38,000 spouse pairs from four neurodevelopmental disease cohorts and the UK Biobank to identify phenotypic and genetic patterns in parents associated with neurodevelopmental disease risk in...
8.
Rive Le Gouard N, Nicolle R, Lefebvre M, Gelot A, Heide S, Gerasimenko A, et al.
Eur J Med Genet
. 2023 Jun;
66(8):104797.
PMID: 37285932
The SMARCC1 gene has been involved in congenital ventriculomegaly with aqueduct stenosis but only a few patients have been reported so far, with no antenatal cases, and it is currently...
9.
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...
10.
Courdier C, Boudjarane J, Malan V, Muti C, Sperelakis-Beedham B, Odent S, et al.
Prenat Diagn
. 2023 Mar;
43(6):734-745.
PMID: 36914926
Objective: We aimed to gather fetal cases carrying a 7q11.23 copy number variation (CNV) and collect precise clinical data to broaden knowledge of antenatal features in these syndromes. Methods: We...