Search Results - "Sharp LN"

MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify.

Authors: Sharp LN Mirshahi UL Colclough K et al.

Source: Diabetes [Diabetes] 2026 Jan 20; Vol. 75 (2), pp. 361-368.

Publication Type: Journal Article

Journal Info: Publisher: American Diabetes Association Country of Publication: United States NLM ID: 0372763 Publication Model: Print Cited Medium: Internet ISSN: 1939-327X (Electronic) Linking ISSN: 00121797 NLM ISO Abbreviation: Diabetes Subsets: MEDLINE

Polygenic background contributes to GCK-MODY clinical presentation and glycaemic variability.

Authors: Murray Leech J Arni AM Chundru VK et al.

Source: Diabetologia [Diabetologia] 2026 Jul; Vol. 69 (7), pp. 1951-1961. Date of Electronic Publication: 2026 Mar 18.

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

Limited penetrance of dominantly inherited AIRE variants in a population-based cohort.

Authors: Ramchand SN Leech JM Sharp LN et al.

Source: Human molecular genetics [Hum Mol Genet] 2026 Jun 09; Vol. 35 (11).

Publication Type: Journal Article

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Medullary Thyroid Cancer Risk and Mortality in Carriers of Incidentally Identified MEN2A RET Variants.

Authors: West CE Mirshahi UL Ruth KS et al.

Source: JAMA network open [JAMA Netw Open] 2025 Jun 02; Vol. 8 (6), pp. e2517937. Date of Electronic Publication: 2025 Jun 02.

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

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet ISSN: 2574-3805 (Electronic) Linking ISSN: 25743805 NLM ISO Abbreviation: JAMA Netw Open Subsets: MEDLINE

Genotype-first approach reveals monogenic lipodystrophy is underdiagnosed, with health and mortality risks.

Authors: Sharp LN Colclough K Murray Leech J et al.

Source: EBioMedicine [EBioMedicine] 2026 May; Vol. 127, pp. 106255. Date of Electronic Publication: 2026 Apr 18.

Publication Type: Journal Article; Observational Study

Journal Info: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE

Population Prevalence, Penetrance, and Mortality for Genetically Confirmed MODY.

Authors: Sharp LN Colclough K Murray Leech J et al.

Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2026 Apr 22; Vol. 111 (5), pp. e1388-e1395.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

Rare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling.

Authors: Kentistou KA Lim BEM Kaisinger LR et al.

Source: Nature communications [Nat Commun] 2025 Jan 14; Vol. 16 (1), pp. 648. Date of Electronic Publication: 2025 Jan 14.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Common genetic variants modify disease risk and clinical presentation in monogenic diabetes.

Authors: Murray Leech J Beaumont RN Arni AM et al.

Source: Nature metabolism [Nat Metab] 2025 Sep; Vol. 7 (9), pp. 1819-1829. Date of Electronic Publication: 2025 Sep 09.

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature Country of Publication: Germany NLM ID: 101736592 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2522-5812 (Electronic) Linking ISSN: 25225812 NLM ISO Abbreviation: Nat Metab Subsets: MEDLINE

Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts.

Authors: Wright CF Sharp LN Jackson L et al.

Source: Nature genetics [Nat Genet] 2024 Sep; Vol. 56 (9), pp. 1772-1779. Date of Electronic Publication: 2024 Jul 29.

Publication Type: Journal Article; Review

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Rare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling.

Authors: Kentistou KA Lim BEM Kaisinger LR et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Apr 03. Date of Electronic Publication: 2024 Apr 03.

Publication Type: Preprint; Journal Article

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE