Detalhe da pesquisa
1.
Low-frequency inherited complement receptor variants are associated with purpura fulminans.
Blood
; 143(11): 1032-1044, 2024 Mar 14.
Artigo
Inglês
| MEDLINE | ID: mdl-38096369
2.
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Hum Mol Genet
; 32(21): 3063-3077, 2023 10 17.
Artigo
Inglês
| MEDLINE | ID: mdl-37552066
3.
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
Am J Hum Genet
; 105(4): 854-868, 2019 10 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31585109
4.
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.
Genet Med
; 23(10): 1889-1900, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34113007
5.
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Brain
; 143(11): 3242-3261, 2020 12 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33150406
6.
Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era.
J Genet Couns
; 28(2): 194-201, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30680851
7.
Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay.
Front Pharmacol
; 11: 599191, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33390987
8.
High-dimensional immunophenotyping reveals immune cell aberrations in patients with undiagnosed inflammatory and autoimmune diseases.
J Clin Invest
; 133(24)2023 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-37874643
9.
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.
NPJ Genom Med
; 3: 21, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30131872
10.
Pharmacist and genetic counselor collaboration in pharmacogenomics.
Am J Health Syst Pharm
; 79(18): 1516-1520, 2022 09 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35732271
11.
The Undiagnosed Diseases Network as a Tool for Graduate Medical Education.
Am J Med
; 133(2): e18-e22, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31301294