Guillaume Jouret
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Explore the profile of Guillaume Jouret including associated specialties, affiliations and a list of published articles.
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12
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96
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Recent Articles
1.
Berger E, Jauss R, Ranells J, Zonic E, von Wintzingerode L, Wilson A, et al.
Genet Med
. 2024 Nov;
:101326.
PMID: 39540377
Purpose: Heterozygous pathogenic variants in NTRK2 (HGNC: 8032) have been associated with global developmental delay. However, only scattered cases have been described in small or general studies. The aim of...
2.
Bayat A, Grimes H, de Boer E, Herlin M, Dahl R, Lund I, et al.
Genet Med
. 2024 May;
26(8):101170.
PMID: 38818797
Purpose: KBG syndrome (KBGS) is a rare neurodevelopmental syndrome caused by haploinsufficiency of ANKRD11. The childhood phenotype is extensively reported but limited for adults. Thus, we aimed to delineate the...
3.
Aerden M, Denomme-Pichon A, Bonneau D, Bruel A, Delanne J, Gerard B, et al.
Eur J Hum Genet
. 2023 Feb;
31(4):461-468.
PMID: 36747006
Haploinsufficiency of TRIP12 causes a neurodevelopmental disorder characterized by intellectual disability associated with epilepsy, autism spectrum disorder and dysmorphic features, also named Clark-Baraitser syndrome. Only a limited number of cases...
4.
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...
5.
Cospain A, Rivera-Barahona A, Dumontet E, Gener B, Bailleul-Forestier I, Meyts I, et al.
Genet Med
. 2022 Oct;
24(12):2475-2486.
PMID: 36197437
Purpose: We aimed to investigate the molecular basis of a novel recognizable neurodevelopmental syndrome with scalp and enamel anomalies caused by truncating variants in the last exon of the gene...
6.
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...
7.
Loberti L, Bruno L, Granata S, Doddato G, Resciniti S, Fava F, et al.
Hum Mol Genet
. 2022 Jul;
31(24):4131-4142.
PMID: 35861666
KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more recognizable, allowing a differential diagnosis. We aimed to better...
8.
Jouret G, Heide S, Sorlin A, Faivre L, Chantot-Bastaraud S, Beneteau C, et al.
Clin Genet
. 2022 Apr;
102(2):117-122.
PMID: 35470444
BRD4 is part of a multiprotein complex involved in loading the cohesin complex onto DNA, a fundamental process required for cohesin-mediated loop extrusion and formation of Topologically Associating Domains. Pathogenic...
9.
Le Collen L, Delemer B, Spodenkiewicz M, Cornillet Lefebvre P, Durand E, Vaillant E, et al.
Orphanet J Rare Dis
. 2022 Mar;
17(1):86.
PMID: 35227307
Background: We studied a young woman with atypical diabetes associated with mild intellectual disability, lymphedema distichiasis syndrome (LDS) and polymalformative syndrome including distichiasis. We used different genetic tools to identify...
10.
Coursimault J, Guerrot A, Morrow M, Schramm C, Zamora F, Shanmugham A, et al.
Hum Genet
. 2021 Nov;
141(1):65-80.
PMID: 34748075
Pathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include heterozygous missense, truncating variants and 2p25.3 microdeletions and cause a syndromic neurodevelopmental disorder (OMIM#616,521). Despite enrichment in de novo...