Francois Lecoquierre
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Explore the profile of Francois Lecoquierre including associated specialties, affiliations and a list of published articles.
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53
Citations
402
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Recent Articles
1.
Maroni M, Barton M, Lynch K, Deshwar A, Campbell P, Millard J, et al.
medRxiv
. 2024 Nov;
PMID: 39574879
Individuals with monoallelic pathogenic variants in the histone lysine methyltransferase DOT1L display global developmental delay and varying congenital anomalies. However, the impact of monoallelic loss of remains unclear. Here, we...
2.
Blackburn P, Ebstein F, Hsieh T, Motta M, Radio F, Herkert J, et al.
Ann Neurol
. 2024 Sep;
PMID: 39301775
Objective: De novo variants in cullin-3 ubiquitin ligase (CUL3) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here, we aimed...
3.
Ham H, Jing H, Lamborn I, Kober M, Koval A, Berchiche Y, et al.
Science
. 2024 Sep;
385(6715):eadd8947.
PMID: 39298586
Humans with monogenic inborn errors responsible for extreme disease phenotypes can reveal essential physiological pathways. We investigated germline mutations in , which encodes G, a key component in heterotrimeric G...
4.
Chen Y, Dawes R, Kim H, Ljungdahl A, Stenton S, Walker S, et al.
Nature
. 2024 Jul;
632(8026):832-840.
PMID: 38991538
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes. Large genome-sequenced cohorts are improving our ability to discover new diagnoses in...
5.
Thomas H, Alix T, Renard E, Renaud M, Wourms J, Zuily S, et al.
J Med Genet
. 2024 Jun;
61(9):878-885.
PMID: 38937076
Background: Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as DNA methyltransferase 3 alpha ()-overgrowth syndrome (DOS), was first described by Tatton-Brown in 2014. This syndrome is characterised by overgrowth, intellectual...
6.
Ellwanger K, Brill J, de Boer E, Efthymiou S, Elgersma Y, Icmat M, et al.
Lab Anim (NY)
. 2024 Jun;
53(7):161-165.
PMID: 38914824
No abstract available.
7.
Lecoquierre F, Punt A, Ebstein F, Wallaard I, Verhagen R, Studencka-Turski M, et al.
Genet Med
. 2024 Mar;
26(6):101119.
PMID: 38465576
Purpose: Fem1 homolog B (FEM1B) acts as a substrate recognition subunit for ubiquitin ligase complexes belonging to the CULLIN 2-based E3 family. Several biological functions have been proposed for FEM1B,...
8.
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....
9.
Lecoquierre F, Cassinari K, Drouot N, May A, Fourneaux S, Charbonnier F, et al.
Sci Rep
. 2024 Mar;
14(1):5289.
PMID: 38438430
While de novo variants (DNV) are overall at low risk of recurrence in subsequent pregnancies, a subset is at high risk due to parental mosaicism. Accurately identifying cases of parental...
10.
Shepherdson J, Hutchison K, Wellalage Don D, McGillivray G, Choi T, Allan C, et al.
Am J Hum Genet
. 2024 Feb;
111(3):487-508.
PMID: 38325380
Pathogenic variants in multiple genes on the X chromosome have been implicated in syndromic and non-syndromic intellectual disability disorders. ZFX on Xp22.11 encodes a transcription factor that has been linked...