Elise Schaefer
Overview
Explore the profile of Elise Schaefer including associated specialties, affiliations and a list of published articles.
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91
Citations
1303
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Recent Articles
1.
Scheidecker S, Bar S, Kroll-Hermi A, Delvallee C, Rinaldi B, Korpioja A, et al.
Eur J Hum Genet
. 2025 Mar;
PMID: 40044823
Syndromes associating both eyeball and periocular developmental anomalies, combining iris chorioretinal (ocular) coloboma and ptosis, are described in very rare clinical entities such as Baraitser-Winter cerebrofrontofacial syndrome (BWCFF). We report...
2.
Cif L, Cif L, Demailly D, Demailly D, Lin J, Lin J, et al.
ArXiv
. 2025 Feb;
PMID: 39990802
Heterozygous mutations in are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial...
3.
Cormier-Daire V, Edouard T, Isidor B, Mukherjee S, Pimenta J, Rossi M, et al.
Horm Res Paediatr
. 2025 Jan;
:1-9.
PMID: 39864410
Introduction: Vosoritide is the first approved treatment for achondroplasia, a rare genetic disorder that results in disproportionate short stature. In clinical trials, vosoritide has shown a positive safety profile and...
4.
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...
5.
Hebrard B, Babonneau M, Charron P, Consolino E, Dauriat B, Dupin-Deguine D, et al.
Orphanet J Rare Dis
. 2024 Oct;
19(1):403.
PMID: 39472905
Transthyretin amyloidosis (ATTR) is a severe and rare disease characterized by the progressive deposition of misfolded transthyretin proteins, causing irreversible organ damage. Transthyretin amyloidosis can present as a hereditary ATTR...
6.
Mancini M, Chapurlat R, Isidor B, Desjonqueres M, Couture G, Guggenbuhl P, et al.
Calcif Tissue Int
. 2024 Sep;
115(5):591-598.
PMID: 39316135
Osteoporosis is a skeletal disorder characterized by abnormal bone microarchitecture and low bone mineral density (BMD), responsible for an increased risk of fractures and skeletal fragility. It is a common...
7.
Hermida A, Jedraszak G, Ader F, Denjoy I, Fressart V, Maury P, et al.
Heart Rhythm
. 2024 Aug;
22(3):844-851.
PMID: 39134129
Background: SCN5A variants are associated with a spectrum of cardiac electrical disorders with clear phenotypes. However, they may also be associated with complex phenotypic traits like overlap syndromes or pleiotropy,...
8.
Baer S, Schalk A, Miguet M, Schaefer E, El Chehadeh S, Ginglinger E, et al.
Pediatr Neurol
. 2024 Aug;
159:16-25.
PMID: 39094250
Background: Genetic epilepsy diagnosis is increasing due to technological advancements. Although the use of molecular diagnosis is increasing, chromosomal microarray analysis (CMA) remains an important diagnostic tool for many patients....
9.
Thomas H, Alix T, Renard E, Renaud M, Wourms J, Zuily S, et al.
J Med Genet
. 2024 Jun;
61(9):878-885.
PMID: 38937076
Background: Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as DNA methyltransferase 3 alpha ()-overgrowth syndrome (DOS), was first described by Tatton-Brown in 2014. This syndrome is characterised by overgrowth, intellectual...
10.
Charpie M, Brunelle P, Baujat G, Michot C, Van Gils J, Leheup B, et al.
Eur J Hum Genet
. 2024 Jun;
32(12):1559-1566.
PMID: 38926541
Osteogenesis Imperfecta (OI) is a clinically and genetically heterogeneous group of diseases characterized by brittle bones. Though genetic mutations in COL1A1 and COL1A2 account for approximately 85-90% of OI cases,...