Detalhe da pesquisa
1.
Genotype first: Clinical genomics research through a reverse phenotyping approach.
Am J Hum Genet
; 110(1): 3-12, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36608682
2.
Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years.
N Engl J Med
; 388(18): 1680-1691, 2023 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37133586
3.
SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.
Blood
; 138(12): 1019-1033, 2021 09 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33876203
4.
Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.
Blood
; 137(18): 2450-2462, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33512449
5.
Research participants' perspectives about the return of uninformative genomic test results in a clinical research setting.
J Genet Couns
; 2023 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37641538
6.
FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopenia.
J Allergy Clin Immunol
; 150(6): 1556-1562, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35987349
7.
Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.
J Allergy Clin Immunol
; 150(4): 947-954, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35753512
8.
A Double-Blind, Placebo-Controlled, Crossover Study of Magnesium Supplementation in Patients with XMEN Disease.
J Clin Immunol
; 42(1): 108-118, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34655400
9.
PhenoTagger: a hybrid method for phenotype concept recognition using human phenotype ontology.
Bioinformatics
; 37(13): 1884-1890, 2021 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33471061
10.
Genomic tools for health: Secondary findings as findings to be shared.
Genet Med
; 24(11): 2220-2227, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35980380
11.
PhenoRerank: A re-ranking model for phenotypic concept recognition pre-trained on human phenotype ontology.
J Biomed Inform
; 129: 104059, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35351638
12.
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species.
Nucleic Acids Res
; 48(D1): D704-D715, 2020 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31701156
13.
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Nucleic Acids Res
; 47(D1): D1018-D1027, 2019 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30476213
14.
Exome sequencing study in a clinical research setting finds general acceptance of study returning secondary genomic findings with little decisional conflict.
J Genet Couns
; 30(3): 766-773, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33320394
15.
Life with a Primary Immune Deficiency: a Systematic Synthesis of the Literature and Proposed Research Agenda.
J Clin Immunol
; 36(2): 123-33, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26873708
16.
Predispositions to Lymphoma: A Practical Review for Genetic Counselors.
J Genet Couns
; 25(6): 1157-1170, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27265405
17.
Patient Perceptions of Telephone vs. In-Person BRCA1/BRCA2 Genetic Counseling.
J Genet Couns
; 25(3): 472-82, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26455498
18.
Aspergillosis, eosinophilic esophagitis, and allergic rhinitis in signal transducer and activator of transcription 3 haploinsufficiency.
J Allergy Clin Immunol
; 142(3): 993-997.e3, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29803798
19.
Genetic Risk Factors for Early-Onset Merkel Cell Carcinoma.
JAMA Dermatol
; 160(2): 172-178, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38170500
20.
Topical Steroid Withdrawal is a Targetable Excess of Mitochondrial NAD.
medRxiv
; 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38712043