Detalhe da pesquisa
1.
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
Am J Hum Genet
; 111(6): 1184-1205, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38744284
2.
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Am J Hum Genet
; 110(8): 1356-1376, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37421948
3.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Am J Hum Genet
; 108(5): 857-873, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33961779
4.
Differences in Survival across Monogenic Forms of Parkinson's Disease.
Ann Neurol
; 94(1): 123-132, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36905164
5.
PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability.
Brain
; 146(4): 1496-1510, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36073231
6.
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
Brain
; 145(9): 3095-3107, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35718349
7.
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
J Med Genet
; 59(7): 669-677, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321324
8.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-35499524
9.
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Genet Med
; 24(10): 2065-2078, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35980381
10.
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.
Clin Genet
; 102(2): 117-122, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35470444
11.
Characterization of Recessive Parkinson Disease in a Large Multicenter Study.
Ann Neurol
; 88(4): 843-850, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33045815
12.
Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO.
Am J Med Genet A
; 182(4): 652-658, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31883306
13.
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Genet Med
; 21(9): 2036-2042, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30739909
14.
Lack of evidence for association of UQCRC1 with autosomal dominant Parkinson's disease in Caucasian families.
Neurogenetics
; 22(4): 365-366, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34286409
15.
Genotype-phenotype correlation in PRKN-associated Parkinson's disease.
NPJ Parkinsons Dis
; 10(1): 72, 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38553467
16.
The Whole-Exome Sequencing of a Cohort of 19 Families with Adolescent Idiopathic Scoliosis (AIS): Candidate Pathways.
Genes (Basel)
; 14(11)2023 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38003035
17.
Detection of ATXN2 Expansions in an Exome Dataset: An Underdiagnosed Cause of Parkinsonism.
Mov Disord Clin Pract
; 10(4): 664-669, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37070044
18.
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Eur J Hum Genet
; 31(4): 461-468, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36747006
19.
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Genome Med
; 14(1): 62, 2022 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35698242
20.
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Cell Rep
; 38(11): 110517, 2022 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35294868