Detalhe da pesquisa
1.
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
Cell
; 149(3): 525-37, 2012 Apr 27.
Artigo
Inglês
| MEDLINE | ID: mdl-22521361
2.
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.
N Engl J Med
; 372(25): 2409-22, 2015 Jun 18.
Artigo
Inglês
| MEDLINE | ID: mdl-26083206
3.
Genome-wide identification of polycomb-associated RNAs by RIP-seq.
Mol Cell
; 40(6): 939-53, 2010 Dec 22.
Artigo
Inglês
| MEDLINE | ID: mdl-21172659
4.
Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association.
J Allergy Clin Immunol
; 137(3): 879-88.e2, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26476480
5.
Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA.
J Allergy Clin Immunol
; 135(1): 217-27, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25468195
6.
Spreading of X chromosome inactivation via a hierarchy of defined Polycomb stations.
Genome Res
; 22(10): 1864-76, 2012 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-22948768
7.
Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.
Am J Hum Genet
; 88(4): 469-81, 2011 Apr 08.
Artigo
Inglês
| MEDLINE | ID: mdl-21473983
8.
Loss of the DNA Repair Gene RNase H2 Identifies a Unique Subset of DDR-Deficient Leiomyosarcomas.
Mol Cancer Ther
; 2024 Apr 02.
Artigo
Inglês
| MEDLINE | ID: mdl-38561019
9.
Integrating circulating T follicular memory cells and autoantibody repertoires for characterization of autoimmune disorders.
medRxiv
; 2024 Mar 07.
Artigo
Inglês
| MEDLINE | ID: mdl-38464255
10.
MolBioLib: a C++11 framework for rapid development and deployment of bioinformatics tasks.
Bioinformatics
; 28(19): 2412-6, 2012 Oct 01.
Artigo
Inglês
| MEDLINE | ID: mdl-22815363
11.
Transposon activation mutagenesis as a screening tool for identifying resistance to cancer therapeutics.
BMC Cancer
; 13: 93, 2013 Feb 27.
Artigo
Inglês
| MEDLINE | ID: mdl-23442791
12.
Rethinking Immunological Risk: A Retrospective Cohort Study of Severe SARS-Cov-2 Infections in Individuals With Congenital Immunodeficiencies.
J Allergy Clin Immunol Pract
; 11(11): 3391-3399.e3, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37544429
13.
Rethinking immunologic risk: a retrospective cohort study of severe SARS-CoV-2 infections in individuals with congenital immunodeficiencies.
medRxiv
; 2023 Jun 05.
Artigo
Inglês
| MEDLINE | ID: mdl-37333367
14.
Sensitive, specific polymorphism discovery in bacteria using massively parallel sequencing.
Nat Methods
; 6(1): 67-9, 2009 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-19079253
15.
A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function.
J Allergy Clin Immunol
; 136(2): 479-482.e1, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-26070885
16.
Analysis of combinatorial CRISPR screens with the Orthrus scoring pipeline.
Nat Protoc
; 16(10): 4766-4798, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34508259
17.
The CIP2A-TOPBP1 axis safeguards chromosome stability and is a synthetic lethal target for BRCA-mutated cancer.
Nat Cancer
; 2(12): 1357-1371, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35121901
18.
Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells.
J Allergy Clin Immunol
; 134(4): 983-5.e1, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-24985406
19.
Three-dimensional simulation of anisotropic cell-driven collagen gel compaction.
Biomech Model Mechanobiol
; 7(1): 53-62, 2008 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-17354006
20.
Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration.
J Exp Med
; 214(7): 1937-1947, 2017 Jul 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28600438