Detalhe da pesquisa
1.
Core planar cell polarity genes VANGL1 and VANGL2 in predisposition to congenital vertebral malformations.
Proc Natl Acad Sci U S A
; 121(18): e2310283121, 2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38669183
2.
PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning.
Am J Hum Genet
; 109(2): 270-281, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35063063
3.
Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosis.
J Med Genet
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38724173
4.
Factors and predictive model associated with perioperative complications after long fusion in the treatment of adult non-degenerative scoliosis.
BMC Musculoskelet Disord
; 22(1): 483, 2021 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34034738
5.
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Cell Rep Methods
; 4(1): 100687, 2024 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38211594
6.
Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine.
Nat Commun
; 15(1): 1125, 2024 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38321032
7.
DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.
Genome Med
; 14(1): 21, 2022 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35209950
8.
Disruptive NADSYN1 Variants Implicated in Congenital Vertebral Malformations.
Genes (Basel)
; 12(10)2021 10 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34681008
9.
Heterozygous Recurrent Mutations Inducing Dysfunction of ROR2 Gene in Patients With Short Stature.
Front Cell Dev Biol
; 9: 661747, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33937263
10.
Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients.
Front Endocrinol (Lausanne)
; 12: 711991, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34589056