Karine Siquier-Pernet
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Explore the profile of Karine Siquier-Pernet including associated specialties, affiliations and a list of published articles.
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22
Citations
449
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Recent Articles
1.
Ormieres C, Lesieur-Sebellin M, Siquier-Pernet K, Delplancq G, Rio M, Parisot M, et al.
Mol Autism
. 2025 Feb;
16(1):10.
PMID: 39948625
Background: Developmental language disorder (DLD) refers to children who present with language difficulties that are not due to a known biomedical condition or associated with autism spectrum disorder (ASD) or...
2.
Qebibo L, Davakan A, Nesson-Dauphin M, Boulali N, Siquier-Pernet K, Afenjar A, et al.
Genet Med
. 2024 Dec;
27(3):101337.
PMID: 39674904
Purpose: Missense de novo variants in CACNA1G, which encodes the Cav3.1 T-type calcium channel, have been associated with a severe, early-onset form of cerebellar disorder with neurodevelopmental deficits (SCA42ND). We...
3.
Crespin M, Siquier-Pernet K, Marzin P, Bole-Feysot C, Malan V, Nitschke P, et al.
HGG Adv
. 2024 Oct;
6(1):100372.
PMID: 39420558
Cerebellar atrophy and hypoplasia are usually identified on MRI performed on children presenting signs of cerebellar ataxias, developmental delay, and intellectual disability. These signs can be associated with hypo- or...
4.
Nicolle R, Altin N, Siquier-Pernet K, Salignac S, Blanc P, Munnich A, et al.
BMC Med Genomics
. 2023 Jun;
16(1):143.
PMID: 37344844
Bi-allelic variants in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene have been involved in early-onset encephalopathies classified as pontocerebellar hypoplasia (PCH) type 6 and in epileptic encephalopathy. A variant (NM_020320.3:c.-2A ...
5.
Riedhammer K, Burgemeister A, Cantagrel V, Amiel J, Siquier-Pernet K, Boddaert N, et al.
Hum Mol Genet
. 2022 May;
31(18):3083-3094.
PMID: 35512351
Background: TASP1 encodes an endopeptidase activating histone methyltransferases of the KMT2 family. Homozygous loss-of-function variants in TASP1 have recently been associated with Suleiman-El-Hattab syndrome. We report six individuals with Suleiman-El-Hattab...
6.
Coolen M, Altin N, Rajamani K, Pereira E, Siquier-Pernet K, Lombardi E, et al.
Am J Hum Genet
. 2022 Apr;
109(5):909-927.
PMID: 35390279
Pontocerebellar hypoplasias (PCHs) are congenital disorders characterized by hypoplasia or early atrophy of the cerebellum and brainstem, leading to a very limited motor and cognitive development. Although over 20 genes...
7.
Nicolle R, Siquier-Pernet K, Rio M, Guimier A, Ollivier E, Nitschke P, et al.
Eur J Hum Genet
. 2022 Apr;
30(6):712-720.
PMID: 35388186
Highly identical segmental duplications (SDs) account for over 5% of the human genome and are enriched in the short arm of the chromosome 16. These SDs are susceptibility factors for...
8.
Barbosa S, Greville-Heygate S, Bonnet M, Godwin A, Fagotto-Kaufmann C, Kajava A, et al.
Am J Hum Genet
. 2020 Feb;
106(3):338-355.
PMID: 32109419
The Rho-guanine nucleotide exchange factor (RhoGEF) TRIO acts as a key regulator of neuronal migration, axonal outgrowth, axon guidance, and synaptogenesis by activating the GTPase RAC1 and modulating actin cytoskeleton...
9.
Efthymiou S, Salpietro V, Malintan N, Poncelet M, Kriouile Y, Fortuna S, et al.
Brain
. 2019 Sep;
142(10):2948-2964.
PMID: 31501903
Axon pathfinding and synapse formation are essential processes for nervous system development and function. The assembly of myelinated fibres and nodes of Ranvier is mediated by a number of cell...
10.
Pant D, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, et al.
J Clin Invest
. 2019 Jan;
129(3):1240-1256.
PMID: 30620337
Sphingolipid imbalance is the culprit in a variety of neurological diseases, some affecting the myelin sheath. We have used whole-exome sequencing in patients with undetermined leukoencephalopathies to uncover the endoplasmic...