Search Results - "Burrage LC"

Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling.

Authors: Aceves-Ewing NM Lanza DG Marcogliese PC et al.

Corporate Authors: Aceves-Ewing NM Lanza DG Marcogliese PC et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Jul 09, pp. 102648. Date of Electronic Publication: 2026 Jul 09.

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

Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder.

Authors: Chan SH Iness AN Rosenfeld JA et al.

Corporate Authors: Chan SH Iness AN Rosenfeld JA et al.

Source: American journal of human genetics [Am J Hum Genet] 2026 Jul 02; Vol. 113 (7), pp. 1558-1569. Date of Electronic Publication: 2026 Jun 08.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework.

Authors: Webb RF McCurry H Girod A et al.

Corporate Authors: Webb RF McCurry H Girod A et al.

Source: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2026 Jul 01; Vol. 41 (7), pp. 717-728.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 8610640 Publication Model: Print Cited Medium: Internet ISSN: 1523-4681 (Electronic) Linking ISSN: 08840431 NLM ISO Abbreviation: J Bone Miner Res 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

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.

Authors: Ma M Zheng Y Deng M et al.

Corporate Authors: Ma M Zheng Y Deng M et al.

Source: ELife [Elife] 2025 Aug 27; Vol. 13. Date of Electronic Publication: 2025 Aug 27.

Publication Type: Journal Article

Journal Info: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency.

Authors: Williams A Divin K Burrage LC et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Aug; Vol. 200 (8), pp. 1814-1820. Date of Electronic Publication: 2026 Apr 05.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A 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

LONP1 Variants Are Associated With Clinically Diverse Phenotypes.

Authors: Young RE Qiao L Hernan R et al.

Corporate Authors: Young RE Qiao L Hernan R et al.

Source: Clinical genetics [Clin Genet] 2026 Mar; Vol. 109 (3), pp. 437-457. Date of Electronic Publication: 2025 Sep 10.

Publication Type: Journal Article

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

The Matter at Hand: A Case of Difficult-to-Treat Arthritis.

Authors: Altaffer AL Burrage LC Kamdar A et al.

Source: Arthritis care & research [Arthritis Care Res (Hoboken)] 2025 Mar; Vol. 77 (3), pp. 291-296. Date of Electronic Publication: 2025 Jan 16.

Publication Type: Journal Article

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101518086 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2151-4658 (Electronic) Linking ISSN: 2151464X NLM ISO Abbreviation: Arthritis Care Res (Hoboken) Subsets: MEDLINE; In Process

Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky syndrome.

Authors: Waskow ER Emrick LT Rosenfeld JA et al.

Corporate Authors: Waskow ER Emrick LT Rosenfeld JA et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Jan; Vol. 197 (1), pp. e63845. Date of Electronic Publication: 2024 Aug 21.

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A 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

Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia.

Authors: Murthy H Hoang N Stark JC et al.

Source: Brain : a journal of neurology [Brain] 2026 Jan 08; Vol. 149 (1), pp. 252-261.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

A retrospective analysis of the prevalence of hypophosphatemia and hypocalcemia after intravenous iron polymaltose in the inpatient setting.

Authors: Burrage LC Llewellyn S Foyn L et al.

Source: JBMR plus [JBMR Plus] 2025 Dec 06; Vol. 9 (Suppl 5), pp. v79-v87. Date of Electronic Publication: 2025 Dec 06 (Print Publication: 2025).

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

The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics.

Authors: Zhao S Sinson JC Li S et al.

Corporate Authors: Zhao S Sinson JC Li S et al.

Source: American journal of human genetics [Am J Hum Genet] 2025 Nov 06; Vol. 112 (11), pp. 2578-2590. Date of Electronic Publication: 2025 Oct 10.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.

Authors: Rinaldi B Bayat A Zachariassen LG et al.

Source: Brain : a journal of neurology [Brain] 2024 May 03; Vol. 147 (5), pp. 1837-1855.

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

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain 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

Prevalence of fibrosis in hepatic explants and biopsies from individuals with urea cycle disorders.

Authors: Ali S Nisar A Zhang A et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2025 Aug; Vol. 145 (4), pp. 109175. Date of Electronic Publication: 2025 Jun 13.

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

Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.

Authors: Brooks D Burke E Lee S et al.

Corporate Authors: Brooks D Burke E Lee S et al.

Source: Human genetics [Hum Genet] 2024 Mar; Vol. 143 (3), pp. 279-291. Date of Electronic Publication: 2024 Mar 07.

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

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.

Authors: Ward SK Wadley A Tsai CA et al.

Corporate Authors: Ward SK Wadley A Tsai CA et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jan; Vol. 194 (1), pp. 17-30. Date of Electronic Publication: 2023 Sep 25.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A 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