Search Results - "Burrage LC"

Comparative outcomes of systemic diseases in people with type 2 diabetes, or obesity alone treated with and without GLP-1 receptor agonists: a retrospective cohort study from the Global Collaborative Network : Author list.

Authors: Nassar M Nassar O Abosheaishaa H et al.

Source: Journal of endocrinological investigation [J Endocrinol Invest] 2025 Feb; Vol. 48 (2), pp. 483-497. Date of Electronic Publication: 2024 Sep 20.

Publication Type: Journal Article; Comparative Study

Journal Info: Publisher: Springer Country of Publication: Italy NLM ID: 7806594 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1720-8386 (Electronic) Linking ISSN: 03914097 NLM ISO Abbreviation: J Endocrinol Invest Subsets: MEDLINE

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

Authors: Fielder SM Friederich MW Hock DH et al.

Corporate Authors: Fielder SM Friederich MW Hock DH et al.

Source: EMBO molecular medicine [EMBO Mol Med] 2025 Oct; Vol. 17 (10), pp. 2562-2585. Date of Electronic Publication: 2025 Aug 26.

Publication Type: Journal Article

Journal Info: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE

Metabolic masqueraders of paediatric and adult rheumatic diseases.

Authors: Lang SH Sha C Rose CM et al.

Source: Nature reviews. Rheumatology [Nat Rev Rheumatol] 2026 Apr; Vol. 22 (4), pp. 239-255. Date of Electronic Publication: 2026 Feb 25.

Publication Type: Journal Article; Review

Journal Info: Publisher: Nature Pub. Group Country of Publication: United States NLM ID: 101500080 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1759-4804 (Electronic) Linking ISSN: 17594790 NLM ISO Abbreviation: Nat Rev Rheumatol Subsets: MEDLINE

Mitochondrial protection role of oxidoreductase-like domain containing 1 in myocardial cells under hypoxia.

Authors: Yan, Yan Dong, Min Tian, Liuyang et al.

Source: Medical Gas Research. Jun2026, Vol. 16 Issue 2, p116-124. 9p.

Two commonly reported incidental variants in OTC are associated with late-onset disease.

Authors: Lang SH Lo RS Cromie GA et al.

Source: HGG advances [HGG Adv] 2026 Jan 15; Vol. 7 (1), pp. 100531. Date of Electronic Publication: 2025 Oct 16.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

Oral Health Knowledge and Self Care Practices of the Pregnant Women in Chennai City Padmalochini Sudharsan, Arthi Balasubramaniam.

Authors: Sudharsan, Padmalochini Balasubramaniam, Arthi

Source: Journal of Chemical Health Risks. 2026, Vol. 16 Issue 2, p2104-2112. 9p.

Analysis of hydroxocobalamin dosage in patients with CblC deficiency.

Authors: Ding, Si Deng, Yuxin Ding, Yi et al.

Source: Orphanet Journal of Rare Diseases. 8/21/2025, Vol. 20 Issue 1, p1-8. 8p.

Playbook workflow builder: Interactive construction of bioinformatics workflows.

Authors: Clarke, Daniel J.B. Evangelista, John Erol Xie, Zhuorui et al.

Source: PLoS Computational Biology. 4/3/2025, Vol. 21 Issue 4, p1-27. 27p.

Effective algorithm to differentiate NBS MCADD cases from carriers and non-carriers and an assessment of the utility of the second newborn screen for MCADD.

Authors: Snyder MT Divin K Liu N et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2025 Aug; Vol. 145 (4), pp. 109183. Date of Electronic Publication: 2025 Jun 25.

Publication Type: Journal Article

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Multiple pterygium in Escobar syndrome: a scoping review for a personalized rehabilitative plan.

Authors: Cichelli, Alice Montemitro, Simona Federica Zotta, Donato Carlo et al.

Source: Egyptian Journal of Medical Human Genetics. 12/22/2025, Vol. 26 Issue 1, p1-10. 10p.

Effects of exercise conducted prior to phenylketonuria-type meal on appetite, satiety hormones and energy expenditure: a randomised cross-over trial.

Authors: Alghamdi, Nouf A. Dorling, James L. Alreshidi, Abdulrahman et al.

Source: European Journal of Clinical Nutrition. Dec2025, Vol. 79 Issue 12, p1197-1203. 7p.

Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning.

Authors: Xie, Yuhan Peng, Gang Tikhonova, Irina et al.

Source: BMC Medical Genomics. 11/19/2025, Vol. 18 Issue 1, p1-10. 10p.

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.

Authors: Stark, Jamie C. Pipko, Neta Liang, Yijing et al.

Source: Genome Medicine. 7/1/2025, Vol. 17 Issue 1, p1-24. 24p.

Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.

Authors: Hock, Daniella H. Caruana, Nikeisha J. Semcesen, Liana N. et al.

Source: Genome Medicine. 5/22/2025, p1-24. 24p.

Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.

Authors: Marom R Zhang B Washington ME et al.

Corporate Authors: Marom R Zhang B Washington ME et al.

Source: PLoS genetics [PLoS Genet] 2023 Nov 07; Vol. 19 (11), pp. e1011005. Date of Electronic Publication: 2023 Nov 07 (Print Publication: 2023).

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Systematic literature review on the methylmalonic acid level changes in transplanted patients with methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency.

Authors: Zelei, Tamás Gyöngyösi, Kristóf Pálfi, Máté et al.

Source: Journal of Rare Diseases. 7/8/2026, Vol. 5 Issue 1, p1-12. 12p.

Anesthetic management in a child with Meier-Gorlin syndrome: a case report.

Authors: Gaik, Christine Kreiss, Kalvis Morin, Astrid et al.

Source: BMC Anesthesiology. 10/27/2025, Vol. 25 Issue 1, p1-7. 7p.

Increase of astrocyte apposition on GnRH neurons in early puberty onset induced by high fat diet.

Authors: Rodrigues‐Santos, Isabelle Dos‐Santos, Raoni Conceição de Jesus, Aline et al.

Source: Journal of Neuroendocrinology. Aug2025, Vol. 37 Issue 8, p1-11. 11p.

Analysis of metabolites associated with ADIPOQ genotypes in individuals with type 2 diabetes mellitus.

Authors: Diniz, Tainá Gomes de Assis, Caroline Severo de Sousa, Bruno Rafael Virginio et al.

Source: Scientific Reports. 11/15/2024, Vol. 14 Issue 1, p1-10. 10p.

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies.

Authors: Weisz-Hubshman M Burrage LC Jangam SV et al.

Corporate Authors: Weisz-Hubshman M Burrage LC Jangam SV et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Apr; Vol. 27 (4), pp. 101369. Date of Electronic Publication: 2025 Jan 28.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE