Detalhe da pesquisa
1.
MEF2C regulates NK cell effector functions through control of lipid metabolism.
Nat Immunol
; 25(5): 778-789, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38589619
2.
Author Correction: MEF2C regulates NK cell effector functions through control of lipid metabolism.
Nat Immunol
; 25(5): 928, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38641722
3.
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
Am J Hum Genet
; 110(11): 1959-1975, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37883978
4.
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.
Hum Mol Genet
; 32(9): 1457-1465, 2023 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36458889
5.
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Genet Med
; 26(5): 101075, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38251460
6.
Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing.
Am J Med Genet A
; : e63725, 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38775384
7.
Parental age effects and Rett syndrome.
Am J Med Genet A
; 194(2): 160-173, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37768187
8.
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
Am J Hum Genet
; 107(4): 753-762, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32910914
9.
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
Genet Med
; 25(1): 63-75, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399132
10.
Anthropometric Measures Correspond with Functional Motor Outcomes in Females with Rett Syndrome.
J Pediatr
; 244: 169-177.e3, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35063470
11.
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Genet Med
; 23(6): 1065-1074, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33547396
12.
Comprehensive investigation of the phenotype of MEF2C-related disorders in human patients: A systematic review.
Am J Med Genet A
; 185(12): 3884-3894, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34184825
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.
Biliary Tract Disease in Girls and Young Women With Rett Syndrome.
J Pediatr Gastroenterol Nutr
; 68(6): 799-805, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30664568
15.
The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.
Am J Med Genet B Neuropsychiatr Genet
; 180(1): 55-67, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30536762
16.
A randomized controlled trial of levodopa in patients with Angelman syndrome.
Am J Med Genet A
; 176(5): 1099-1107, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28944563
17.
Longitudinal course of epilepsy in Rett syndrome and related disorders.
Brain
; 140(2): 306-318, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28007990
18.
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.
Genet Med
; 19(1): 13-19, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27171548
19.
Noonan syndrome in diverse populations.
Am J Med Genet A
; 173(9): 2323-2334, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28748642
20.
Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Genet Med
; 23(11): 2228, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33637969