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1.
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Mol Psychiatry
; 28(2): 668-697, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36385166
2.
ARF1-related disorder: phenotypic and molecular spectrum.
J Med Genet
; 60(10): 999-1005, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37185208
3.
X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3.
PLoS Genet
; 17(6): e1009608, 2021 06.
Article
in English
| MEDLINE | ID: mdl-34161333
4.
Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human.
Mol Psychiatry
; 27(10): 4092-4102, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35697757
5.
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.
Neurogenetics
; 23(1): 27-35, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34731330
6.
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.
Hum Genet
; 141(2): 283-293, 2022 Feb.
Article
in English
| MEDLINE | ID: mdl-35031858
7.
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Hum Genet
; 141(1): 65-80, 2022 Jan.
Article
in English
| MEDLINE | ID: mdl-34748075
8.
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Genet Med
; 24(10): 2194-2203, 2022 10.
Article
in English
| MEDLINE | ID: mdl-36001086
9.
GM3 synthase deficiency in non-Amish patients.
Genet Med
; 24(2): 492-498, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34906476
10.
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.
Genet Med
; 24(7): 1583-1591, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35499524
11.
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.
Hum Mutat
; 42(7): 848-861, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33856728
12.
X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.
Neurogenetics
; 22(1): 43-51, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33415589
13.
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
Hum Mol Genet
; 28(17): 2937-2951, 2019 09 01.
Article
in English
| MEDLINE | ID: mdl-31152168
14.
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Genet Med
; 23(11): 2150-2159, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34345024
15.
Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype.
Clin Genet
; 99(5): 732-739, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33506510
16.
Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.
Clin Genet
; 99(3): 407-417, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33277917
17.
Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.
Am J Med Genet A
; 185(6): 1803-1815, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33754465
18.
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Am J Med Genet A
; 185(8): 2417-2433, 2021 08.
Article
in English
| MEDLINE | ID: mdl-34042254
19.
Exome sequencing identifies the first genetic determinants of sirenomelia in humans.
Hum Mutat
; 41(5): 926-933, 2020 05.
Article
in English
| MEDLINE | ID: mdl-32058622
20.
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
Am J Hum Genet
; 101(3): 428-440, 2017 Sep 07.
Article
in English
| MEDLINE | ID: mdl-28823707