Detalhe da pesquisa
1.
Efficient in vivo prime editing corrects the most frequent phenylketonuria variant, associated with high unmet medical need.
Am J Hum Genet
; 110(12): 2003-2014, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924808
2.
A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency.
Mol Genet Metab
; 141(2): 108116, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38161139
3.
Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy.
J Pediatr
; 265: 113808, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37923198
4.
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Cytotherapy
; 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38613540
5.
Biochemical signatures of disease severity in multiple sulfatase deficiency.
J Inherit Metab Dis
; 47(2): 374-386, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37870986
6.
Neuronal genetic rescue normalizes brain network dynamics in a lysosomal storage disorder despite persistent storage accumulation.
Mol Ther
; 30(7): 2464-2473, 2022 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35395398
7.
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
J Med Genet
; 59(11): 1058-1068, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35232796
8.
Electrocardiographic Findings in Genotype-Positive and Non-sarcomeric Children with Definite Hypertrophic Cardiomyopathy and Subclinical Variant Carriers.
Pediatr Cardiol
; 2023 Sep 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37725123
9.
Noonan syndrome associated with hypoplastic left heart syndrome.
Cardiol Young
; 33(4): 652-654, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35989466
10.
Contribution of Mendelian Disorders in a Population-Based Pediatric Neurodegeneration Cohort.
J Pediatr
; 248: 89-93, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35577121
11.
MYH7 variants cause complex congenital heart disease.
Am J Med Genet A
; 188(9): 2772-2776, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35491958
12.
Variants in NAA15 cause pediatric hypertrophic cardiomyopathy.
Am J Med Genet A
; 185(1): 228-233, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33103328
13.
Genetic variant burden and adverse outcomes in pediatric cardiomyopathy.
Pediatr Res
; 89(6): 1470-1476, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32746448
14.
Genotype-phenotype association by echocardiography offers incremental value in patients with Noonan Syndrome with Multiple Lentigines.
Pediatr Res
; 90(2): 444-451, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33318624
15.
Clinical utility of exome sequencing in infantile heart failure.
Genet Med
; 22(2): 423-426, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31527676
16.
The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
Am J Med Genet A
; 182(9): 2058-2067, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32686290
17.
A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency.
J Inherit Metab Dis
; 43(6): 1288-1297, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32621519
18.
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
J Inherit Metab Dis
; 43(6): 1298-1309, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32749716
19.
Brain Branched-Chain Amino Acids in Maple Syrup Urine Disease: Implications for Neurological Disorders.
Int J Mol Sci
; 21(20)2020 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33050626
20.
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.
Int J Mol Sci
; 21(10)2020 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32414121