Detalhe da pesquisa
1.
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Am J Hum Genet
; 111(3): 594-613, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38423010
2.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(1): 96-118, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38181735
3.
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Am J Hum Genet
; 110(6): 963-978, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37196654
4.
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
PLoS Genet
; 19(6): e1010796, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37315079
5.
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Am J Hum Genet
; 109(9): 1713-1723, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35948005
6.
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders.
Hum Mol Genet
; 31(14): 2386-2395, 2022 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35179199
7.
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.
Am J Hum Genet
; 108(1): 134-147, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33340455
8.
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Am J Hum Genet
; 108(7): 1330-1341, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34102099
9.
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Am J Hum Genet
; 108(10): 2006-2016, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34626583
10.
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia.
Genet Med
; : 101143, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38641995
11.
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
Genet Med
; 26(3): 101034, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054405
12.
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Genet Med
; 26(2): 101013, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924258
13.
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Mol Genet Metab
; 141(3): 108118, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38244286
14.
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.
Ann Neurol
; 93(2): 330-335, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36333996
15.
Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.
Hum Genomics
; 17(1): 55, 2023 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37330543
16.
Good Outcome of Resective Epilepsy Surgery in a 1-Year-Old Child with Drug-Resistant Focal Epilepsy with a Novel Pathogenic COL4A1 Mutation.
Neuropediatrics
; 2024 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38167978
17.
A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism.
Neuropediatrics
; 55(3): 209-212, 2024 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38286424
18.
Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago.
Neuropediatrics
; 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38547905
19.
ARF1-related disorder: phenotypic and molecular spectrum.
J Med Genet
; 60(10): 999-1005, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37185208
20.
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.
Am J Hum Genet
; 106(1): 102-111, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31883641