Detalhe da pesquisa
1.
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.
Cell
; 169(1): 6-12, 2017 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28340351
2.
Molecular Characterization of Juxtaglomerular Cell Tumors: Evidence of Alterations in MAPK-RAS Pathway.
Mod Pathol
; 37(6): 100492, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38614322
3.
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Genet Med
; : 101166, 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38767059
4.
Ten simple rules for using public biological data for your research.
PLoS Comput Biol
; 19(1): e1010749, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36602970
5.
DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variants.
Hum Mutat
; 43(9): 1149-1161, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35544951
6.
Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome.
J Allergy Clin Immunol
; 148(2): 585-598, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33771552
7.
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
N Engl J Med
; 379(22): 2131-2139, 2018 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30304647
8.
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Hum Mol Genet
; 27(14): 2454-2465, 2018 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29726930
9.
VarSight: prioritizing clinically reported variants with binary classification algorithms.
BMC Bioinformatics
; 20(1): 496, 2019 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31615419
10.
Risk-factors Associated With Poor Outcomes in VEO-IBD Secondary to XIAP Deficiency: A Case Report and Literature Review.
J Pediatr Gastroenterol Nutr
; 69(1): e13-e18, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31232887
11.
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
J Genet Couns
; 28(2): 213-228, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30964584
12.
Genome sequencing in the clinic: the past, present, and future of genomic medicine.
Physiol Genomics
; 50(8): 563-579, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29727589
13.
Prostate cancer risk locus at 8q24 as a regulatory hub by physical interactions with multiple genomic loci across the genome.
Hum Mol Genet
; 24(1): 154-66, 2015 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25149474
14.
RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy.
Am J Med Genet A
; 173(9): 2557-2561, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28686325
15.
The Rat Genome Database 2015: genomic, phenotypic and environmental variations and disease.
Nucleic Acids Res
; 43(Database issue): D743-50, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25355511
16.
Cross-organism analysis using InterMine.
Genesis
; 53(8): 547-60, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26097192
17.
The Rat Genome Database 2013--data, tools and users.
Brief Bioinform
; 14(4): 520-6, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23434633
18.
Disease pathways at the Rat Genome Database Pathway Portal: genes in context-a network approach to understanding the molecular mechanisms of disease.
Hum Genomics
; 8: 17, 2014 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-25265995
19.
Pharmacogenomics for Prader-Willi syndrome: caregiver interest and planned utilization.
Pharmacogenomics
; 25(4): 207-216, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38506331
20.
Vitamin D status and variable responses to supplements depend in part on genetic factors in adults with cystic fibrosis.
J Cyst Fibros
; 2024 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38383231