Detalhe da pesquisa
1.
Insurance denials and diagnostic rates in a pediatric genomic research cohort.
Genet Med;
25(5): 100020, 2023 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36718845
2.
Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia.
Am J Med Genet A;
191(1): 259-264, 2023 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36301021
3.
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Genet Med;
24(6): 1336-1348, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35305867
4.
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.
Hum Mol Genet;
28(2): 258-268, 2019 01 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30285085
5.
Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings.
Pediatr Dermatol;
38(3): 655-658, 2021 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33870574
6.
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Am J Med Genet A;
182(5): 962-973, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32031333
7.
Clinical genome sequencing in an unbiased pediatric cohort.
Genet Med;
21(2): 303-310, 2019 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30008475
8.
A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.
BMC Med Genet;
16: 31, 2015 May 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25948378
9.
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
J Exp Med;
221(8)2024 Aug 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38780621
10.
LZTR1-Related Hypertrophic Cardiomyopathy Without Typical Noonan Syndrome Features.
Circ Genom Precis Med;
13(2): e002690, 2020 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32004086