Detalhe da pesquisa
1.
Author Correction: A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma.
Nat Immunol
; 22(6): 794-795, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33903767
2.
A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma.
Nat Immunol
; 21(11): 1359-1370, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32929274
3.
Notch4 signaling limits regulatory T-cell-mediated tissue repair and promotes severe lung inflammation in viral infections.
Immunity
; 54(6): 1186-1199.e7, 2021 06 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33915108
4.
Author Correction: A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma.
Nat Immunol
; 22(1): 100, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33214720
5.
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Am J Hum Genet
; 108(8): 1450-1465, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34186028
6.
High number of candidate gene variants are identified as disease-causing in a period of 4 years.
Am J Med Genet A
; 194(5): e63509, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38158391
7.
A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.
PLoS Genet
; 17(7): e1009639, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34232960
8.
Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6.
J Allergy Clin Immunol
; 152(1): 182-194.e7, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36758835
9.
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
Am J Hum Genet
; 106(4): 570-583, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32197074
10.
Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis.
J Clin Immunol
; 43(8): 1882-1890, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37507632
11.
Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency.
Allergy
; 77(3): 1004-1019, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34287962
12.
Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6.
Am J Hematol
; 97(1): 18-29, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34677878
13.
Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation.
PLoS Genet
; 15(2): e1007917, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30707697
14.
Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1.
J Allergy Clin Immunol
; 145(1): 391-401.e8, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31629014
15.
Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice.
Blood
; 132(13): 1399-1412, 2018 09 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29898956
16.
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.
Genet Med
; 21(7): 1585-1593, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30514889
17.
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.
Am J Hum Genet
; 96(5): 709-19, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25865492
18.
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia.
Blood
; 128(15): 1913-1917, 2016 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27488349
19.
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy.
Am J Med Genet A
; 176(12): 2623-2629, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30151950
20.
The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations.
Am J Respir Cell Mol Biol
; 57(6): 711-720, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28708422