Detalhe da pesquisa
1.
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.
Nat Immunol
; 25(5): 764-777, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38609546
2.
Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis.
Nat Immunol
; 21(8): 857-867, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32601469
3.
Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome.
N Engl J Med
; 388(24): 2241-2252, 2023 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37256972
4.
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
N Engl J Med
; 383(27): 2628-2638, 2020 12 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33108101
5.
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Ann Rheum Dis
; 81(10): 1453-1464, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35868845
6.
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.
Am J Hum Genet
; 103(5): 794-807, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401460
7.
Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features.
Ann Rheum Dis
; 80(6): 788-795, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33619160
8.
DDX58 and Classic Singleton-Merten Syndrome.
J Clin Immunol
; 39(1): 75-80, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30574673
9.
Cover Image, Volume 173A, Number 12, December 2017.
Am J Med Genet A
; 173(12): i, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29136352
10.
Defective ciliogenesis in INPP5E-related Joubert syndrome.
Am J Med Genet A
; 173(12): 3231-3237, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29052317
11.
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.
Genet Med
; 18(6): 608-17, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26562225
12.
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.
Genet Med
; 16(10): 741-50, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24784157
13.
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.
Genet Med
; 14(1): 51-9, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22237431
14.
The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort.
Front Immunol
; 12: 811473, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35095905
15.
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.
Front Med (Lausanne)
; 4: 62, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28603714
16.
The role of estrogens in BRCA1/2 mutation carriers: reflections on the past, issues for the future.
Cancer Nurs
; 26(6): 421-30, 2003 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-15022973
17.
Development of the breast cancer education and risk assessment program.
Oncol Nurs Forum
; 30(5): 803-8, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-12949593