Search Results - "Sutton VR"

Glutaric aciduria type 1 as a mimicker of abusive head trauma in the era of newborn screening.

Authors: Lang SH Shanghvi D Divin K et al.

Source: Child abuse & neglect [Child Abuse Negl] 2026 Jul 07; Vol. 179, pp. 108212. Date of Electronic Publication: 2026 Jul 07.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Science Inc Country of Publication: England NLM ID: 7801702 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-7757 (Electronic) Linking ISSN: 01452134 NLM ISO Abbreviation: Child Abuse Negl Subsets: MEDLINE

Differential perforin sensitivity drives lineage-dependent resistance to CAR T-cell killing in blood cancer cell lines.

Authors: Hodel AW Noori T Rudd-Schmidt JA et al.

Source: Blood advances [Blood Adv] 2026 Jul 02. Date of Electronic Publication: 2026 Jul 02.

Publication Type: Journal Article

Journal Info: Publisher: American Society of Hematology Country of Publication: United States NLM ID: 101698425 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2473-9537 (Electronic) Linking ISSN: 24739529 NLM ISO Abbreviation: Blood Adv Subsets: MEDLINE

Sociodemographic and clinical predictors of resilience in individuals with osteogenesis imperfecta.

Authors: Hawkins M Strouphauer E McCarty R et al.

Corporate Authors: Hawkins M Strouphauer E McCarty R et al.

Source: Disability and health journal [Disabil Health J] 2026 Jun 20, pp. 102113. Date of Electronic Publication: 2026 Jun 20.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 101306633 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7583 (Electronic) Linking ISSN: 18767583 NLM ISO Abbreviation: Disabil Health J Subsets: MEDLINE

Reproductive Carrier Screening Detects Early Actionable Metabolic Conditions.

Authors: Parobek CM Zemet R Souter V et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Jun 16, pp. 102634. Date of Electronic Publication: 2026 Jun 16.

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

Pharmacological inhibition of perforin dampens CD8⁺ T cell-mediated beta cell destruction in autoimmune diabetes in mice.

Authors: Trivedi PM Catterall T Sutton VR et al.

Source: Diabetologia [Diabetologia] 2026 Jun 11. Date of Electronic Publication: 2026 Jun 11.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0006777 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0428 (Electronic) Linking ISSN: 0012186X NLM ISO Abbreviation: Diabetologia Subsets: MEDLINE

Mindful Self-Compassion to Reduce Pain Interference Among Adults with Osteogenesis Imperfecta.

Authors: Sediqi A Al-Khalili R Dover S et al.

Source: Journal of clinical psychology in medical settings [J Clin Psychol Med Settings] 2026 Jun; Vol. 33 (2), pp. 248-258. Date of Electronic Publication: 2025 Aug 14.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 9435680 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3572 (Electronic) Linking ISSN: 10689583 NLM ISO Abbreviation: J Clin Psychol Med Settings Subsets: MEDLINE

Pathways to Facilitate Early Recognition and Diagnosis of Hypochondroplasia.

Authors: Irving M Greco E Cocca A et al.

Source: Advances in therapy [Adv Ther] 2026 May; Vol. 43 (5), pp. 2018-2033. Date of Electronic Publication: 2026 Feb 28.

Publication Type: Journal Article

Journal Info: Publisher: Health Communications Inc Country of Publication: United States NLM ID: 8611864 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1865-8652 (Electronic) Linking ISSN: 0741238X NLM ISO Abbreviation: Adv Ther 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

Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health.

Authors: Morales JM Villar CF Varman B et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Apr; Vol. 200 (4), pp. 777-789. Date of Electronic Publication: 2025 Dec 10.

Publication Type: Journal Article; Systematic Review; Review

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

Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.

Authors: Miller JS Farmer C Blair S et al.

Source: Pediatric neurology [Pediatr Neurol] 2026 Feb; Vol. 175, pp. 8-18. Date of Electronic Publication: 2025 Oct 30.

Publication Type: Journal Article; Observational Study

Journal Info: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

A TAK1 cytokine toxicity checkpoint controls anti-cancer immunity.

Authors: Djajawi TM Huber A Rivera SM et al.

Source: Cell reports [Cell Rep] 2026 Jan 27; Vol. 45 (1), pp. 116665. Date of Electronic Publication: 2025 Dec 19.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep 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

From PKU to Genome Sequencing: The Past, Present, and Future of Newborn Screening.

Authors: Nakar-Weinstein A Ben-Moshe Y Sutton VR

Source: Clinical chemistry [Clin Chem] 2025 Dec 30; Vol. 72 (1), pp. 123-132.

Publication Type: Journal Article; Review; Historical Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 9421549 Publication Model: Print Cited Medium: Internet ISSN: 1530-8561 (Electronic) Linking ISSN: 00099147 NLM ISO Abbreviation: Clin Chem Subsets: MEDLINE

Detecting mitochondrial electron transport chain enzyme defects in low-heteroplasmy single large-scale mtDNA deletion syndromes (SLSMDSs).

Authors: Pan X Wang Y Liu N et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2025 Nov; Vol. 146 (3), pp. 109260. Date of Electronic Publication: 2025 Oct 08.

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

Setrusumab for the treatment of osteogenesis imperfecta: 12-month results from the phase 2b asteroid study.

Authors: Glorieux FH Langdahl B Chapurlat R 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] 2024 Sep 02; Vol. 39 (9), pp. 1215-1228.

Publication Type: Journal Article; Clinical Trial, Phase II; Randomized Controlled Trial; Multicenter Study; Research Support, Non-U.S. Gov't

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

Psychosocial Outcomes of Pain and Pain Management in Adults with Osteogenesis Imperfecta: A Qualitative Study.

Authors: Shepherd WS Wiese AD Cho HE et al.

Corporate Authors: Shepherd WS Wiese AD Cho HE et al.

Source: Journal of clinical psychology in medical settings [J Clin Psychol Med Settings] 2024 Sep; Vol. 31 (3), pp. 614-627. Date of Electronic Publication: 2024 Jan 28.

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

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 9435680 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3572 (Electronic) Linking ISSN: 10689583 NLM ISO Abbreviation: J Clin Psychol Med Settings Subsets: MEDLINE

Pharmacologic inhibition of dipeptidyl peptidase 1 (cathepsin C) does not block in vitro granzyme-mediated target cell killing by CD8 T or NK cells.

Authors: Sutton VR Watt SV Akhlaghi H et al.

Source: Frontiers in pharmacology [Front Pharmacol] 2024 Jul 03; Vol. 15, pp. 1396710. Date of Electronic Publication: 2024 Jul 03 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Media] Country of Publication: Switzerland NLM ID: 101548923 Publication Model: eCollection Cited Medium: Print ISSN: 1663-9812 (Print) Linking ISSN: 16639812 NLM ISO Abbreviation: Front Pharmacol Subsets: PubMed not MEDLINE

Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis.

Authors: Glinton KE Gijavanekar C Rajagopal A et al.

Source: Frontiers in genetics [Front Genet] 2024 Jun 19; Vol. 15, pp. 1405468. Date of Electronic Publication: 2024 Jun 19 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Facilitators and barriers to care among individuals with osteogenesis imperfecta.

Authors: Guo S Gedeon FC Wiese AD et al.

Corporate Authors: Guo S Gedeon FC Wiese AD et al.

Source: Psychology & health [Psychol Health] 2025 Oct 10, pp. 1-16. Date of Electronic Publication: 2025 Oct 10.

Publication Type: Journal Article

Journal Info: Publisher: Routledge Country of Publication: England NLM ID: 8807983 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-8321 (Electronic) Linking ISSN: 08870446 NLM ISO Abbreviation: Psychol Health Subsets: MEDLINE