Stanislas Lyonnet
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Explore the profile of Stanislas Lyonnet including associated specialties, affiliations and a list of published articles.
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247
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8646
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Recent Articles
1.
Guillouet C, Agostini V, Baujat G, Cocciadiferro D, Pippucci T, Lesieur-Sebellin M, et al.
Am J Hum Genet
. 2025 Mar;
PMID: 40081376
The Mediator complex regulates protein-coding gene transcription by coordinating the interaction of upstream enhancers with the basal transcription machinery at the promoter. Pathogenic variants in Mediator subunits typically lead to...
2.
Nicolle R, Russell L, Abadie V, Nitschke P, Bole C, Guay S, et al.
J Eur Acad Dermatol Venereol
. 2025 Feb;
PMID: 39912323
No abstract available.
3.
Stoupa A, Kariyawasam D, Jabot-Hanin F, Quoc A, Hanein S, Rabeony T, et al.
J Clin Endocrinol Metab
. 2025 Jan;
PMID: 39787321
Context: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and is chiefly caused by thyroid dysgenesis (CHTD). The inheritance mode of the disease remains complex. Objectives: Gain insight...
4.
Hennocq Q, Lienhard O, Rao D, Amiel J, Benichou L, Bongibault T, et al.
Clin Genet
. 2024 Dec;
PMID: 39726094
Diagnostic wandering and delayed management are major issues in rare diseases. Here, we report a new Next-Generation Phenotyping (NGP) model for diagnosing Coffin Siris syndrome (CSS) on clinical photographs among...
5.
Vienne-Jumeau A, Tilleul J, Tilleul-Hatwell V, Lyonnet S, Robert M, Souied E
Ophthalmic Genet
. 2024 Dec;
:1-6.
PMID: 39676297
Background: Neurofibromatosis type 1 is an autosomal dominant disorder predisposing to numerous tumors. Sporadic mutations account for half of the cases. They can occur on a mosaic pattern, which might...
6.
Hennocq Q, Paternoster G, Collet C, Amiel J, Bongibault T, Bouygues T, et al.
J Craniomaxillofac Surg
. 2024 Aug;
52(10):1172-1187.
PMID: 39187417
Apert (AS), Crouzon (CS), Muenke (MS), Pfeiffer (PS), and Saethre Chotzen (SCS) are among the most frequently diagnosed syndromic craniosynostoses. The aims of this study were (1) to train an...
7.
Haghshenas S, Karimi K, Stevenson R, Levy M, Relator R, Kerkhof J, et al.
Am J Hum Genet
. 2024 Aug;
111(8):1643-1655.
PMID: 39089258
The term "recurrent constellations of embryonic malformations" (RCEM) is used to describe a number of multiple malformation associations that affect three or more body structures. The causes of these disorders...
8.
Rive Le Gouard N, Lafond-Rive V, Jonard L, Loundon N, Achard S, Heidet L, et al.
Clin Genet
. 2024 Jun;
106(5):564-573.
PMID: 38940299
HDR syndrome is a rare disease characterized by hypoparathyroidism, deafness, and renal dysplasia. An autosomal dominant disease caused by heterozygous pathogenic GATA3 variants, the penetrance of each associated condition is...
9.
Faviez C, Chen X, Garcelon N, Zaidan M, Billot K, Petzold F, et al.
BMC Med Inform Decis Mak
. 2024 May;
24(1):134.
PMID: 38789985
Background: There are approximately 8,000 different rare diseases that affect roughly 400 million people worldwide. Many of them suffer from delayed diagnosis. Ciliopathies are rare monogenic disorders characterized by a...
10.
Hennocq Q, Garcelon N, Bongibault T, Bouygues T, Marlin S, Amiel J, et al.
Prenat Diagn
. 2024 Apr;
44(10):1150-1158.
PMID: 38635411
Objective: Here we trained an automatic phenotype assessment tool to recognize syndromic ears in two syndromes in fetuses-=CHARGE and Mandibulo-Facial Dysostosis Guion Almeida type (MFDGA)-versus controls. Method: We trained an...