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1.
Nuclear Acetyl-CoA Production by ACLY Promotes Homologous Recombination.
Mol Cell
; 67(2): 252-265.e6, 2017 Jul 20.
Article
in English
| MEDLINE | ID: mdl-28689661
2.
Establishing consensus recommendations for long-term osteoporosis care for patients who have attended an Australian fracture liaison service: a Delphi study.
Osteoporos Int
; 35(3): 373-389, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38267665
3.
Exploring barriers and opportunities to improve osteoporosis care across the acute-to-primary care interface: a qualitative study.
Osteoporos Int
; 34(7): 1249-1262, 2023 Jul.
Article
in English
| MEDLINE | ID: mdl-37093239
4.
Topically delivered 22 nt siRNAs enhance RNAi silencing of endogenous genes in two species.
Planta
; 254(3): 60, 2021 Aug 26.
Article
in English
| MEDLINE | ID: mdl-34448043
5.
Fine Mapping and Functional Analysis Reveal a Role of SLC22A1 in Acylcarnitine Transport.
Am J Hum Genet
; 101(4): 489-502, 2017 Oct 05.
Article
in English
| MEDLINE | ID: mdl-28942964
6.
The Metabolomic Signature of the Placenta in Spontaneous Preterm Birth.
Int J Mol Sci
; 21(3)2020 Feb 04.
Article
in English
| MEDLINE | ID: mdl-32033212
7.
Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass Spectrometry.
Clin Chem
; 65(5): 653-663, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30770376
8.
Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 20(12): 1499-1507, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30459394
9.
Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism.
J Inherit Metab Dis
; 41(2): 157-168, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29159707
10.
Design, synthesis and biological evaluation of novel 4-phenylisoquinolinone BET bromodomain inhibitors.
Bioorg Med Chem Lett
; 28(10): 1811-1816, 2018 06 01.
Article
in English
| MEDLINE | ID: mdl-29657099
11.
Flunarizine rescues reduced lifespan in CLN3 triple knock-out Caenorhabditis elegans model of batten disease.
J Inherit Metab Dis
; 40(2): 291-296, 2017 03.
Article
in English
| MEDLINE | ID: mdl-27766444
12.
Comparative metabolomics in vegans and omnivores reveal constraints on diet-dependent gut microbiota metabolite production.
Gut
; 65(1): 63-72, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-25431456
13.
Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency.
J Biol Chem
; 290(16): 10486-94, 2015 Apr 17.
Article
in English
| MEDLINE | ID: mdl-25737446
14.
Normal Biomarkers in an Acute Presentation in a Known Case of Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
Clin Chem
; 67(12): 1735-1737, 2021 11 26.
Article
in English
| MEDLINE | ID: mdl-34850845
15.
Dried Blood Spot Reference Intervals for Steroids and Amino Acids in a Neonatal Cohort of the National Children's Study.
Clin Chem
; 62(12): 1658-1667, 2016 Dec.
Article
in English
| MEDLINE | ID: mdl-27784706
16.
Multi-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiency.
PLoS Genet
; 9(6): e1003563, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-23785301
17.
Discovery of siRNA lipid nanoparticles to transfect suspension leukemia cells and provide in vivo delivery capability.
Mol Ther
; 22(2): 359-370, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-24002693
18.
Regulation of glucagon secretion in normal and diabetic human islets by γ-hydroxybutyrate and glycine.
J Biol Chem
; 288(6): 3938-51, 2013 Feb 08.
Article
in English
| MEDLINE | ID: mdl-23266825
19.
In vivo metabolic flux profiling with stable isotopes discriminates sites and quantifies effects of mitochondrial dysfunction in C. elegans.
Mol Genet Metab
; 111(3): 331-341, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24445252
20.
Amlodipine prevents apoptotic cell death by correction of elevated intracellular calcium in a primary neuronal model of Batten disease (CLN3 disease).
Biochem Biophys Res Commun
; 436(4): 645-9, 2013 Jul 12.
Article
in English
| MEDLINE | ID: mdl-23769828