Detalhe da pesquisa
1.
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Genet Med
; 25(11): 100950, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37551667
2.
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
Am J Med Genet A
; 191(7): 1722-1740, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36987741
3.
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Brain
; 145(9): 2991-3009, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34431999
4.
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.
Genet Med
; 23(8): 1492-1497, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33911214
5.
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Genet Med
; 23(4): 653-660, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33299146
6.
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
Epilepsia
; 62(2): 325-334, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33410528
7.
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.
J Med Genet
; 57(12): 808-819, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32409512
8.
Parental mosaicism in epilepsies due to alleged de novo variants.
Epilepsia
; 60(6): e63-e66, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31077350
9.
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Genet Med
; 23(4): 796, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33686260
10.
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Neurology
; 102(2): e207945, 2024 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38165337
11.
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.
Neurology
; 101(9): e879-e891, 2023 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37407264
12.
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Eur J Hum Genet
; 31(11): 1251-1260, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37644171
13.
Genetic testing before epilepsy surgery - An exploratory survey and case collection from German epilepsy centers.
Seizure
; 95: 4-10, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34953286
14.
Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion.
Sci Rep
; 12(1): 13507, 2022 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35931711
15.
Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures.
Front Genet
; 12: 663643, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34046058
16.
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.
Orphanet J Rare Dis
; 16(1): 136, 2021 03 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33736665
17.
KDM5A mutations identified in autism spectrum disorder using forward genetics.
Elife
; 92020 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33350388
18.
A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8.
J Neurol Sci
; 347(1-2): 372-4, 2014 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25454649