Detalhe da pesquisa
1.
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit ß-type 10 in six infants with SCID-Omenn syndrome.
Am J Hum Genet
; 111(4): 791-804, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38503300
2.
SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation.
BMC Genomics
; 24(1): 305, 2023 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37280537
3.
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Am J Hum Genet
; 107(1): 164-172, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32553196
4.
Catecholamines Induce Trained Immunity in Monocytes In Vitro and In Vivo.
Circ Res
; 127(2): 269-283, 2020 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32241223
5.
Presence of Genetic Variants Among Young Men With Severe COVID-19.
JAMA
; 324(7): 663-673, 2020 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32706371
6.
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Genet Med
; 21(12): 2723-2733, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31239556
7.
Ion transport in the zebrafish kidney from a human disease angle: possibilities, considerations, and future perspectives.
Am J Physiol Renal Physiol
; 312(1): F172-F189, 2017 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27852607
8.
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.
Elife
; 112022 Oct 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36250618
9.
Pro-inflammatory Monocyte Phenotype During Acute Progression of Cerebral Small Vessel Disease.
Front Cardiovasc Med
; 8: 639361, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34055930
10.
Quantifying single-cell ERK dynamics in colorectal cancer organoids reveals EGFR as an amplifier of oncogenic MAPK pathway signalling.
Nat Cell Biol
; 23(4): 377-390, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33795873
11.
Arterial Wall Inflammation and Increased Hematopoietic Activity in Patients With Primary Aldosteronism.
J Clin Endocrinol Metab
; 105(5)2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31875423
12.
Transcriptional and functional insights into the host immune response against the emerging fungal pathogen Candida auris.
Nat Microbiol
; 5(12): 1516-1531, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32839538
13.
Long-Read Sequencing Emerging in Medical Genetics.
Front Genet
; 10: 426, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31134132