Cedric Le Caignec
Overview
Explore the profile of Cedric Le Caignec including associated specialties, affiliations and a list of published articles.
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128
Citations
3443
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Recent Articles
1.
Porretta A, Le Bloa M, Bhuiyan Z, Sekarski N, Atallah I, Le Caignec C, et al.
JACC Clin Electrophysiol
. 2025 Feb;
PMID: 39945714
TECRL is the causative gene of an autosomal-recessive form of catecholaminergic polymorphic ventricular tachycardia (CPVT), the so-called type 3 CPVT. However, only 17 families have been reported worldwide and no...
2.
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...
3.
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....
4.
Jedraszak G, Jobic F, Receveur A, Bilan F, Gilbert-Dussardier B, Tiffany B, et al.
Am J Med Genet A
. 2023 Nov;
194(4):e63476.
PMID: 37974505
Cat Eye Syndrome (CES) is a rare genetic disease caused by the presence of a small supernumerary marker chromosome derived from chromosome 22, which results in a partial tetrasomy of...
5.
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...
6.
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...
7.
Jacquin C, Landais E, Poirsier C, Afenjar A, Akhavi A, Bednarek N, et al.
Am J Med Genet A
. 2022 Nov;
191(2):445-458.
PMID: 36369750
Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion...
8.
Grange L, Reynolds J, Ullah F, Isidor B, Shearer R, Latypova X, et al.
Nat Commun
. 2022 Nov;
13(1):6664.
PMID: 36333305
Embryonic development is dictated by tight regulation of DNA replication, cell division and differentiation. Mutations in DNA repair and replication genes disrupt this equilibrium, giving rise to neurodevelopmental disease characterized...
9.
Jouret G, Egloff M, Landais E, Tassy O, Giuliano F, Karmous-Benailly H, et al.
Am J Med Genet A
. 2022 Oct;
191(1):52-63.
PMID: 36196855
A small but growing body of scientific literature is emerging about clinical findings in patients with 19p13.3 microdeletion or duplication. Recently, a proximal 19p13.3 microduplication syndrome was described, associated with...
10.
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients
Chesneau B, Aubert-Mucca M, Fremont F, Pechmeja J, Soler V, Isidor B, et al.
Clin Genet
. 2022 Feb;
101(5-6):494-506.
PMID: 35170016
Peters' anomaly (PA) is a rare anterior segment dysgenesis characterized by central corneal opacity and irido-lenticulo-corneal adhesions. Several genes are involved in syndromic or isolated PA (B3GLCT, PAX6, PITX3, FOXE3,...