Detalhe da pesquisa
1.
Linear programming based gene expression model (LPM-GEM) predicts the carbon source for Bacillus subtilis.
BMC Bioinformatics
; 23(1): 226, 2022 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35689204
2.
Intrafamilial variability in six family members with ERF-related craniosynostosis syndrome type 4.
Am J Med Genet A
; 188(10): 2969-2975, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35852485
3.
Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.
PLoS Genet
; 14(12): e1007866, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30586382
4.
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
Am J Hum Genet
; 101(5): 833-843, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100093
5.
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.
J Hum Genet
; 64(7): 609-616, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31015584
6.
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
Am J Hum Genet
; 95(6): 763-70, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25480037
7.
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.
Hum Mutat
; 35(9): 1092-100, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24924640
8.
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.
PLoS Genet
; 7(7): e1002114, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21750680
9.
Correction: Heuristic-enabled active machine learning: A case study of predicting essential developmental stage and immune response genes in Drosophila melanogaster.
PLoS One
; 19(6): e0305979, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38889170
10.
Heuristic-enabled active machine learning: A case study of predicting essential developmental stage and immune response genes in Drosophila melanogaster.
PLoS One
; 18(8): e0288023, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37556452
11.
Machine learning on large scale perturbation screens for SARS-CoV-2 host factors identifies ß-catenin/CBP inhibitor PRI-724 as a potent antiviral.
Front Microbiol
; 14: 1193320, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37342561
12.
Computational identification of Plasmodium falciparum RNA pseudouridylate synthase as a viable drug target, its physicochemical properties, 3D structure prediction and prediction of potential inhibitors.
Infect Genet Evol
; 97: 105194, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34968763
13.
Anopheles gambiae Trehalase Inhibitors for Malaria Vector Control: A Molecular Docking and Molecular Dynamics Study.
Insects
; 13(11)2022 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36421973
14.
PITX1 Is a Regulator of TERT Expression in Prostate Cancer with Prognostic Power.
Cancers (Basel)
; 14(5)2022 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35267575
15.
Predicting host dependency factors of pathogens in Drosophila melanogaster using machine learning.
Comput Struct Biotechnol J
; 19: 4581-4592, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34471501
16.
Identifying essential genes across eukaryotes by machine learning.
NAR Genom Bioinform
; 3(4): lqab110, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34859210
17.
Wiedemann-Steiner syndrome: three further cases.
Am J Med Genet A
; 152A(9): 2372-5, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20803650
18.
Essential gene prediction in Drosophila melanogaster using machine learning approaches based on sequence and functional features.
Comput Struct Biotechnol J
; 18: 612-621, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32257045
19.
Anopheles metabolic proteins in malaria transmission, prevention and control: a review.
Parasit Vectors
; 13(1): 465, 2020 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32912275
20.
Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.
Bone
; 133: 115219, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31923704