Anne-Marie Guerrot
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Explore the profile of Anne-Marie Guerrot including associated specialties, affiliations and a list of published articles.
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45
Citations
448
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Recent Articles
1.
Courdier C, Dhaenens C, Grunewald O, Guerrot A, Audo I, Lecleire-Collet A, et al.
Ophthalmic Genet
. 2024 Nov;
:1-8.
PMID: 39610034
Introduction: Classically, Usher syndrome is characterized by the association of sensorineural hearing loss (SNHL), retinitis pigmentosa (RP) and possible vestibular dysfunction. Pathogenic bi-allelic variants in cause atypical autosomal recessive Usher...
2.
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...
3.
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...
4.
Thauvin-Robinet C, Garde A, Delanne J, Racine C, Rousseau T, Simon E, et al.
Prenat Diagn
. 2024 Aug;
44(10):1179-1197.
PMID: 39138116
Objective: Prenatal exome sequencing (pES) is now commonly used in clinical practice. It can be used to identifiy an additional diagnosis in around 30% of fetuses with structural defects and...
5.
Kuentz P, Engel C, Laeng M, Chevarin M, Duffourd Y, Martel J, et al.
Br J Dermatol
. 2024 Apr;
191(2):303-305.
PMID: 38623710
No abstract available.
6.
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...
7.
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...
8.
Sabbagh Q, Haghshenas S, Piard J, Trouve C, Amiel J, Attie-Bitach T, et al.
Genet Med
. 2023 Oct;
26(1):101007.
PMID: 37860968
Purpose: BCL11B-related disorder (BCL11B-RD) arises from rare genetic variants within the BCL11B gene, resulting in a distinctive clinical spectrum encompassing syndromic neurodevelopmental disorder, with or without intellectual disability, associated with...
9.
Lanvin P, Goronflot T, Isidor B, Nizon M, Durand B, El Chehadeh S, et al.
Am J Med Genet A
. 2023 Sep;
194(1):9-16.
PMID: 37740550
DYRK1A Syndrome (OMIM #614104) is caused by pathogenic variations in the DYRK1A gene located on 21q22. Haploinsufficiency of DYRK1A causes a syndrome with global psychomotor delay and intellectual disability. Low...
10.
Blackburn P, Ebstein F, Hsieh T, Motta M, Radio F, Herkert J, et al.
medRxiv
. 2023 Jul;
PMID: 37398376
Purpose: variants in (Cullin-3 ubiquitin ligase) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here we aimed to collect sporadic...