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.
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.
Hum Mol Genet
; 32(19): 2913-2928, 2023 09 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37462524
3.
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
4.
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
5.
Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment.
Brain
; 146(8): 3347-3363, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36869767
6.
Exploring the association between congenital vertebral malformations and neural tube defects.
J Med Genet
; 60(12): 1146-1152, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37775263
7.
Dissection of mendelian predisposition and complex genetic architecture of craniovertebral junction malformation.
Hum Genet
; 142(1): 89-101, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36098810
8.
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome.
Genet Med
; 24(11): 2262-2273, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36112137
9.
A genotype-first analysis in a cohort of Mullerian anomaly.
J Hum Genet
; 67(6): 347-352, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35022528
10.
TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome.
Am J Med Genet A
; 188(12): 3469-3481, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36161696
11.
The utility of hierarchical genetic testing in paediatric liver disease.
Liver Int
; 42(5): 1097-1108, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35257483
12.
Improving Spectral Validation Rates in Hydrogen-Deuterium Exchange Data Analysis.
Anal Chem
; 93(9): 4246-4254, 2021 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33592142
13.
Site-specific glycan-conjugated NISTmAb antibody drug conjugate mimetics: synthesis, characterization, and utility.
Anal Bioanal Chem
; 413(20): 4989-5001, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34231000
14.
Dual protease type XIII/pepsin digestion offers superior resolution and overlap for the analysis of histone tails by HX-MS.
Methods
; 184: 135-140, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32004545
15.
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
16.
The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.
BMC Musculoskelet Disord
; 21(1): 220, 2020 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32278351
17.
Top-Down Hydrogen-Deuterium Exchange Analysis of Protein Structures Using Ultraviolet Photodissociation.
Anal Chem
; 90(5): 3079-3082, 2018 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29336549
18.
Site-Specifically Labeled Antibody-Drug Conjugate for Simultaneous Therapy and ImmunoPET.
Mol Pharm
; 15(3): 892-898, 2018 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29356543
19.
Increased expression of lysosome membrane protein 2 in glomeruli of patients with idiopathic membranous nephropathy.
Proteomics
; 15(21): 3722-30, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26304790
20.
An Efficient Muscle Segmentation Method Via Bayesian Fusion of Probabilistic Shape Modeling and Deep Edge Detection.
IEEE Trans Biomed Eng
; PP2024 Jun 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38889018