Emmanuelle Lemyre
Overview
Explore the profile of Emmanuelle Lemyre including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
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Articles
51
Citations
1303
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Recent Articles
1.
Gourmel A, Perrault H, Colaiacovo M, Laramee L, Rozendaal M, Bittencourt H, et al.
Pediatr Blood Cancer
. 2024 Jul;
71(9):e31129.
PMID: 38952259
Background: The objective of this study is to assess the concordance and added value of combined comparative genomic hybridization plus single-nucleotide polymorphism microarray (CGH/SNP) analyses in pediatric acute lymphoblastic leukemia...
2.
Miranda V, Sabeh P, Seiltgens C, Molidperee S, Janelle C, Lemyre E, et al.
Eur J Hum Genet
. 2024 Jun;
PMID: 38914686
Haploinsufficiency of the short stature homeobox-containing (SHOX) gene leads to a phenotypic spectrum ranging from Leri-Weill dyschondrosteosis (LWD) to SHOX-deficient short stature. SHOX nullizygosity leads to Langer mesomelic dysplasia. Pathogenic...
3.
Morali B, Miranda V, Raelson J, Grimard G, Glavas P, Audibert F, et al.
Clin Genet
. 2024 Jun;
106(4):483-487.
PMID: 38856159
Arthrogryposis is a clinical feature defined by congenital joint contractures in two or more different body areas which occurs in between 1/3000 and 1/5000 live births. Variants in multiple genes...
4.
Vairy S, Jouan L, Bilodeau M, Dormoy-Raclet V, Gendron P, Couture F, et al.
JCO Precis Oncol
. 2022 Feb;
2:1-13.
PMID: 35135143
No abstract available.
5.
Huguet G, Schramm C, Douard E, Tamer P, Main A, Monin P, et al.
Mol Psychiatry
. 2021 Jan;
26(6):2663-2676.
PMID: 33414497
Genomic copy number variants (CNVs) are routinely identified and reported back to patients with neuropsychiatric disorders, but their quantitative effects on essential traits such as cognitive ability are poorly documented....
6.
Minsart A, Boucoiran I, Delrue M, Audibert F, Abadir S, Lapierre C, et al.
Pediatr Cardiol
. 2019 Nov;
41(2):230-236.
PMID: 31720744
The frequency of chromosomal anomalies among fetuses with isolated persistent left superior vena cava (PLSVC) is still debated. The objective of the present study was to assess the prevalence of...
7.
Jonch A, Douard E, Moreau C, Van Dijck A, Passeggeri M, Kooy F, et al.
J Med Genet
. 2019 Aug;
56(10):701-710.
PMID: 31451536
Background: The 15q11.2 deletion is frequently identified in the neurodevelopmental clinic. Case-control studies have associated the 15q11.2 deletion with neurodevelopmental disorders, and clinical case series have attempted to delineate a...
8.
Saskin A, Seath K, Tihy F, Lemyre E, Davis J, Halal F, et al.
Cancer Genet
. 2019 May;
235-236:28-30.
PMID: 31072725
Ewing sarcoma (ES), a common pediatric primary bone neoplasm, has a well-defined genomic landscape with various predisposing genomic elements including TP53, PMS2 and RET. Additionally, germline and somatic variants in...
9.
Mucha B, Banka S, Ajeawung N, Molidperee S, Chen G, Koenig M, et al.
Genet Med
. 2019 Jan;
21(9):2159-2160.
PMID: 30643220
The original version of this Article contained an error in the spelling of the author Siddharth Banka, which was incorrectly given as Siddhart Banka. This has now been corrected in...
10.
Verheije R, Kupchik G, Isidor B, Kroes H, Lynch S, Hawkes L, et al.
Eur J Hum Genet
. 2018 Oct;
27(2):278-290.
PMID: 30291340
Deletions on chromosome 15q14 are a known chromosomal cause of cleft palate, typically co-occurring with intellectual disability, facial dysmorphism, and congenital heart defects. The identification of patients with loss-of-function variants...