Nicolas Chassaing
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Explore the profile of Nicolas Chassaing including associated specialties, affiliations and a list of published articles.
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106
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2153
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Recent Articles
1.
Noero J, Weber M, Chassaing N, Gaston V, Plaisancie J, Chesneau B
Ophthalmic Genet
. 2025 Feb;
:1-5.
PMID: 39957481
Microphthalmia and anophthalmia (M/A) are rare congenital eye anomalies with a birth prevalence of up to 1 in 10,000 births. The etiology of M/A can involve environmental and/or genetic factors,...
2.
Cortes-Gonzalez V, Rodriguez-Morales M, Ataliotis P, Mayer C, Plaisancie J, Chassaing N, et al.
Hum Genet
. 2024 Nov;
143(12):1509-1521.
PMID: 39503780
Ocular coloboma (OC) is a congenital disorder caused by the incomplete closure of the embryonic ocular fissure. OC can present as a simple anomaly or, in more complex forms, be...
3.
Ceroni F, Cicekdal M, Holt R, Sorokina E, Chassaing N, Clokie S, et al.
Nat Commun
. 2024 Oct;
15(1):9245.
PMID: 39455595
Anophthalmia, microphthalmia and coloboma (AMC) comprise a spectrum of developmental eye disorders, accounting for approximately 20% of childhood visual impairment. While non-coding regulatory sequences are increasingly recognised as contributing to...
4.
Sauvestre C, Boileau M, Caule C, Griffiths D, Schrub F, Chassaing N, et al.
Cardiol Young
. 2024 Oct;
34(12):2606-2609.
PMID: 39390895
Radiculomegaly is a rare dental anomaly characterised by the enlargement of the root canals of teeth. It is usually associated with oculo-facio-cardio-dental (OFCD) syndrome due to truncating variants in BCL-6...
5.
Erjavec E, Angee C, Hadjadj D, Passet B, David P, Kostic C, et al.
Am J Hum Genet
. 2024 Sep;
111(10):2265-2282.
PMID: 39293448
Congenital microcoria (MCOR) is a rare hereditary developmental defect of the iris dilator muscle frequently associated with high axial myopia and high intraocular pressure (IOP) glaucoma. The condition is caused...
6.
Chesneau B, Calvas P, Cassagne M, Varenne F, Rozet J, Bonneville F, et al.
Am J Med Genet A
. 2024 May;
194(9):e63655.
PMID: 38711238
The association of early-onset non-progressive ataxia and miosis is an extremely rare phenotypic entity occasionally reported in the literature. To date, only one family (two siblings and their mother) has...
7.
Plaisancie J, Chesneau B, Fares-Taie L, Rozet J, Pechmeja J, Noero J, et al.
Int J Mol Sci
. 2024 Mar;
25(5).
PMID: 38473917
Ocular malformations (OMs) arise from early defects during embryonic eye development. Despite the identification of over 100 genes linked to this heterogeneous group of disorders, the genetic cause remains unknown...
8.
Ebstein F, Latypova X, Sharon Hung K, Prado M, Lee B, Moller S, et al.
Genet Med
. 2024 Mar;
26(6):101120.
PMID: 38469793
Purpose: Imbalances in protein homeostasis affect human brain development, with the ubiquitin-proteasome system (UPS) and autophagy playing crucial roles in neurodevelopmental disorders (NDD). This study explores the impact of biallelic...
9.
AlAbdi L, Rahbeeni Z, Maddirevula S, Helaby R, Abdulwahab F, Khan A, et al.
Clin Genet
. 2024 Feb;
106(1):66-71.
PMID: 38417950
Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia, and Cardiac defects (PDAC) syndrome is a genetically heterogeneous multiple congenital malformation syndrome. Although pathogenic variants in RARB and STRA6 are established causes of PDAC,...
10.
Husson T, Lecoquierre F, Nicolas G, Richard A, Afenjar A, Audebert-Bellanger S, et al.
Eur J Hum Genet
. 2023 Oct;
32(2):190-199.
PMID: 37872275
Variants of uncertain significance (VUS) are a significant issue for the molecular diagnosis of rare diseases. The publication of episignatures as effective biomarkers of certain Mendelian neurodevelopmental disorders has raised...