Search details
1.
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Brain
; 147(4): 1197-1205, 2024 Apr 04.
Article
in English
| MEDLINE | ID: mdl-38141063
2.
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
J Med Genet
; 61(2): 103-108, 2024 Jan 19.
Article
in English
| MEDLINE | ID: mdl-37879892
3.
Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy.
Proc Natl Acad Sci U S A
; 119(15): e2116887119, 2022 04 12.
Article
in English
| MEDLINE | ID: mdl-35377796
4.
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Hum Genet
; 143(1): 71-84, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-38117302
5.
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
Ann Neurol
; 94(2): 332-349, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37062836
6.
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.
Mol Psychiatry
; 2023 Nov 29.
Article
in English
| MEDLINE | ID: mdl-38030819
7.
Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Epilepsia
; 2024 Mar 16.
Article
in English
| MEDLINE | ID: mdl-38491959
8.
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Epilepsia
; 65(4): 1029-1045, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38135915
9.
Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.
Brain
; 146(8): 3470-3483, 2023 08 01.
Article
in English
| MEDLINE | ID: mdl-36454683
10.
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Am J Hum Genet
; 107(5): 963-976, 2020 11 05.
Article
in English
| MEDLINE | ID: mdl-33157009
11.
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Am J Hum Genet
; 107(6): 1096-1112, 2020 12 03.
Article
in English
| MEDLINE | ID: mdl-33232675
12.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 356-370, 2020 03 05.
Article
in English
| MEDLINE | ID: mdl-32109418
13.
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 338-355, 2020 03 05.
Article
in English
| MEDLINE | ID: mdl-32109419
14.
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Genet Med
; 25(1): 37-48, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36322149
15.
GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms.
Epilepsia
; 64(12): 3377-3388, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37734923
16.
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.
Epilepsia
; 64(5): 1351-1367, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36779245
17.
SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.
Eur J Neurol
; 30(7): 2001-2011, 2023 07.
Article
in English
| MEDLINE | ID: mdl-36943151
18.
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brain
; 145(11): 3816-3831, 2022 11 21.
Article
in English
| MEDLINE | ID: mdl-35696452
19.
Adult phenotype of KCNQ2 encephalopathy.
J Med Genet
; 59(6): 528-535, 2022 06.
Article
in English
| MEDLINE | ID: mdl-33811133
20.
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome.
J Med Genet
; 59(5): 505-510, 2022 05.
Article
in English
| MEDLINE | ID: mdl-33811134