Anne Destree
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Explore the profile of Anne Destree including associated specialties, affiliations and a list of published articles.
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1028
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Recent Articles
1.
Loberti L, Adamo L, Antolini E, Casamassima G, Destree A, Brunetti-Pierri N, et al.
Genet Med
. 2025 Feb;
:101375.
PMID: 39953909
Purpose: AUTS2-related syndrome is a condition characterized by developmental delay, autism spectrum disorder, and intellectual disability. From alternative promoters AUTS2 encodes two distinct long and short isoforms encoding a putative...
2.
Jeanne M, Ronce N, Remize S, Arpin S, Baujat G, Breton S, et al.
J Med Genet
. 2025 Jan;
PMID: 39798962
Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom...
3.
Oexle K, Zech M, Stuhn L, Siegert S, Brunet T, Schmidt W, et al.
Eur J Hum Genet
. 2023 Jun;
31(9):1032-1039.
PMID: 37365401
DNA methylation classifiers ("episignatures") help to determine the pathogenicity of variants of uncertain significance (VUS). However, their sensitivity is limited due to their training on unambiguous cases with strong-effect variants...
4.
Dembour A, Destree A, Deprez M, Kadhim H, Karadurmus D, Froment O, et al.
Eur J Med Genet
. 2022 Mar;
65(4):104469.
PMID: 35276412
Pathogenic variants in the genes encoding for the ASC1 complex were recently reported in patients with congenital fractures, joint contractures, neonatal hypotonia and respiratory distress. Here we report two male...
5.
Johannesen K, Liu Y, Koko M, Gjerulfsen C, Sonnenberg L, Schubert J, et al.
Brain
. 2021 Aug;
145(9):2991-3009.
PMID: 34431999
We report detailed functional analyses and genotype-phenotype correlations in 392 individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ channel Nav1.6, with the aim of describing clinical phenotypes related...
6.
Duerinckx S, Desir J, Perazzolo C, Badoer C, Jacquemin V, Soblet J, et al.
Mol Genet Genomic Med
. 2021 Aug;
9(9):e1768.
PMID: 34402213
Background: Primary microcephaly (PM) is defined as a significant reduction in occipitofrontal circumference (OFC) of prenatal onset. Clinical and genetic heterogeneity of PM represents a diagnostic challenge. Methods: We performed...
7.
Boets S, Johannesen K, Destree A, Manti F, Ramantani G, Lesca G, et al.
J Med Genet
. 2021 Apr;
59(6):528-535.
PMID: 33811133
Background: Pathogenic variants are a frequent cause of developmental and epileptic encephalopathy. Methods: We recruited 13 adults (between 18 years and 45 years of age) with encephalopathy and reviewed their...
8.
Muys J, Jacquemyn Y, Blaumeiser B, Bourlard L, Brison N, Bulk S, et al.
Prenat Diagn
. 2020 May;
40(10):1272-1283.
PMID: 32436253
Objective: Belgian genetic centers established a database containing data on all chromosomal microarrays performed in a prenatal context. A study was initiated to evaluate postnatal development in children diagnosed prenatally...
9.
Almoallem B, Arno G, De Zaeytijd J, Verdin H, Balikova I, Casteels I, et al.
Sci Rep
. 2020 Jan;
10(1):1289.
PMID: 31992737
This study aimed to genetically and clinically characterize a unique cohort of 25 individuals from 21 unrelated families with autosomal recessive nanophthalmos (NNO) and posterior microphthalmia (MCOP) from different ethnicities....
10.
Meerschaut I, De Coninck S, Steyaert W, Barnicoat A, Bayat A, Benedicenti F, et al.
Genet Med
. 2019 Jul;
22(1):124-131.
PMID: 31316167
Purpose: Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder manifesting joint contractures, arachnodactyly, crumpled ears, and kyphoscoliosis as main features. Due to its rarity, rather aspecific clinical...