Magalie S Leduc
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Explore the profile of Magalie S Leduc including associated specialties, affiliations and a list of published articles.
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26
Citations
1641
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Recent Articles
1.
Cousin M, Veale E, Dsouza N, Tripathi S, Holden R, Arelin M, et al.
Genome Med
. 2022 Jun;
14(1):62.
PMID: 35698242
Background: Genomics enables individualized diagnosis and treatment, but large challenges remain to functionally interpret rare variants. To date, only one causative variant has been described for KCNK9 imprinting syndrome (KIS)....
2.
Ernst M, Baugh E, Thomas A, Bier L, Lippa N, Stong N, et al.
Epilepsia
. 2021 May;
62(7):e103-e109.
PMID: 34041744
CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow-up for...
3.
Carapito R, Ivanova E, Morlon A, Meng L, Molitor A, Erdmann E, et al.
Am J Hum Genet
. 2019 Dec;
106(1):137.
PMID: 31879022
No abstract available.
4.
Chiang T, Liu X, Wu T, Hu J, Sedlazeck F, White S, et al.
Genet Med
. 2019 Mar;
21(9):2135-2144.
PMID: 30890783
Purpose: To provide a validated method to confidently identify exon-containing copy-number variants (CNVs), with a low false discovery rate (FDR), in targeted sequencing data from a clinical laboratory with particular...
5.
Carapito R, Ivanova E, Morlon A, Meng L, Molitor A, Erdmann E, et al.
Am J Hum Genet
. 2019 Jan;
104(2):319-330.
PMID: 30639322
ZMIZ1 is a coactivator of several transcription factors, including p53, the androgen receptor, and NOTCH1. Here, we report 19 subjects with intellectual disability and developmental delay carrying variants in ZMIZ1....
6.
Wang X, Posey J, Rosenfeld J, Bacino C, Scaglia F, Immken L, et al.
Ann Clin Transl Neurol
. 2018 Oct;
5(10):1277-1285.
PMID: 30349862
De variants in account for 1-3% of unexplained intellectual disability (ID) cases and are amongst the most common causes of ID especially in females. Forty-seven patients (44 females, 3 males)...
7.
Stevens S, van der Schoot V, Leduc M, Rinne T, Lalani S, Weiss M, et al.
Hum Mutat
. 2018 Apr;
39(7):1014-1023.
PMID: 29688601
The role of disturbed chromatin remodeling in the pathogenesis of intellectual disability (ID) is well established and illustrated by de novo mutations found in a plethora of genes encoding for...
8.
Leduc M, Mcguire M, Madan-Khetarpal S, Ortiz D, Hayflick S, Keller K, et al.
Hum Genet
. 2018 Mar;
137(3):257-264.
PMID: 29556724
PRR12 encodes a proline-rich protein nuclear factor suspected to be involved in neural development. Its nuclear expression in fetal brains and in the vision system supports its role in brain...
9.
Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi A, Vetrini F, et al.
JAMA Pediatr
. 2017 Oct;
171(12):e173438.
PMID: 28973083
Importance: While congenital malformations and genetic diseases are a leading cause of early infant death, to our knowledge, the contribution of single-gene disorders in this group is undetermined. Objective: To...
10.
Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Leduc M, et al.
J Clin Invest
. 2017 Oct;
127(11):4090-4103.
PMID: 28972538
Shwachman-Diamond syndrome (SDS) (OMIM #260400) is a rare inherited bone marrow failure syndrome (IBMFS) that is primarily characterized by neutropenia and exocrine pancreatic insufficiency. Seventy-five to ninety percent of patients...