Search Results - "Burrage LC"

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

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

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

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

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

Delayed skeletal development and IGF-1 deficiency in a mouse model of lysinuric protein intolerance.

Authors: Stroup BM Li X Ho S et al.

Source: Disease models & mechanisms [Dis Model Mech] 2023 Aug 01; Vol. 16 (8). Date of Electronic Publication: 2023 Aug 17.

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

Journal Info: Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1754-8411 (Electronic) Linking ISSN: 17548403 NLM ISO Abbreviation: Dis Model Mech Subsets: MEDLINE

Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

Authors: Peña LDM Burrage LC Enns GM et al.

Corporate Authors: Peña LDM Burrage LC Enns GM et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jun; Vol. 25 (6), pp. 100831. Date of Electronic Publication: 2023 Apr 09.

Publication Type: Practice Guideline; 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

Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

Authors: Sen K Burrage LC Chapman KA et al.

Corporate Authors: Sen K Burrage LC Chapman KA et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Feb; Vol. 25 (2), pp. 100337. Date of Electronic Publication: 2022 Dec 19.

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

Biomarkers for liver disease in urea cycle disorders.

Authors: Nagamani SCS Ali S Izem R et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2021 Jun; Vol. 133 (2), pp. 148-156. Date of Electronic Publication: 2021 Apr 08.

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

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

Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature.

Authors: Contreras JL Ladino MA Aránguiz K et al.

Source: Frontiers in pediatrics [Front Pediatr] 2021 May 20; Vol. 9, pp. 673957. Date of Electronic Publication: 2021 May 20 (Print Publication: 2021).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE

Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".

Authors: Yap KL Johnson AEK Fischer D et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Jan; Vol. 21 (1), pp. 262-265.

Publication Type: Journal Article; Published Erratum

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: PubMed not MEDLINE

Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in SERPINF1 Causing Osteogenesis Imperfecta Type VI.

Authors: Jin Z Burrage LC Jiang MM et al.

Source: JBMR plus [JBMR Plus] 2018 Apr 16; Vol. 2 (4), pp. 235-239. Date of Electronic Publication: 2018 Apr 16 (Print Publication: 2018).

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101707013 Publication Model: eCollection Cited Medium: Internet ISSN: 2473-4039 (Electronic) Linking ISSN: 24734039 NLM ISO Abbreviation: JBMR Plus Subsets: PubMed not MEDLINE